Parietotemporal atypical teratoid/rhabdoid tumor (ATRT) in a 5 years old male: A Case Report

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Characterized by rapid growth and dissemination, AT/RT has a poor prognosis, with median survival times often measured in months. Recent advances in treatment, including autologous stem cell transplantation (ASCT), aim to improve outcomes but lack a definitive protocol. Case Presentation : We report a case of a 5-year-old male presenting with acute left-sided weakness, right-sided mouth deviation, and confusion. Initial imaging at another facility revealed a right parietotemporal intra-axial lesion with significant edema and midline shift. Upon transfer to our institution, Magnetic resonance imaging (MRI) confirmed a large supratentorial mass involving critical structures without invasion of major arteries. Surgical intervention was necessary, and a right pterional craniotomy was performed for maximal safe resection. During surgery, the tumor was identified as grayish, highly vascularized, and necrotic. Successful debulking was achieved, with careful preservation of surrounding neural structures. Postoperatively, the patient demonstrated significant neurological improvement, with a Glasgow Coma Scale (GCS) score of 15/15. Histopathological examination confirmed the diagnosis of AT/RT, WHO grade 4, characterized by malignant blue cells and loss of INI1 immunoreactivity. Conclusion This case underscores the importance of early diagnosis and aggressive intervention in managing AT/RT. The complexities of its presentation and imaging necessitate a multidisciplinary approach, integrating neurosurgery and oncology. Our findings support the use of surgical resection, contemporary chemotherapy, and ASCT as part of a multimodal treatment strategy to enhance survival outcomes. However, the inherent aggressiveness of AT/RT highlights the urgent need for innovative treatments and further research to improve prognoses for affected patients. Atypical teratoid/rhabdoid tumor central nervous system tumors pediatric oncology chemotherapy stem cell transplantation INI1 multidisciplinary approach Figures Figure 1 Figure 2 Figure 3 Background Atypical teratoid/rhabdoid tumor (AT/RT) is a rare and highly aggressive embryonal tumor of the central nervous system (CNS). AT/RT was first described in 1985. This rare tumor occurs with an annual incidence of 0.7 cases per 1,000,000 and is the most prevalent CNS tumor in children under 6 months of age [1]. The typical age of presentation is usually under 3 years, although cases have been documented in older children and adults [1,2]. This tumor is marked by rapid growth and dissemination within the cerebrospinal fluid, resulting in a poor prognosis, with patients diagnosed with ATRT typically having a median survival time of only a few months post-diagnosis [2]. The effectiveness of various treatment options has been investigated to enhance survival rates for ATRT patients [3]. However, a definitive treatment strategy for ATRT has yet to be established. A significant recent advancement in treatment protocols for pediatric ATRT is the incorporation of autologous stem cell transplantation (ASCT), which is often used in conjunction with multimodal therapy that includes surgery, followed by chemotherapy and radiation therapy (RT). In this report, we present a case of AT/RT to illustrate the clinical presentation, diagnostic challenges, and treatment considerations associated with this rare and aggressive CNS tumor. This case report has been reported in accordance with the SCARE (Surgical Case Report Guidelines) criteria [4]. Case presentation We present the case of a 5-year-old male who was referred to our neurosurgical department with a three-day history of left-sided body weakness, predominantly affecting the lower extremity. In addition, the patient exhibited right-sided mouth deviation, generalized hypoactivity, and confusion. He had been in his usual state of health until the acute onset of these symptoms three days prior. The patient initially sought medical attention at another hospital, where a brain A computed tomography scan (CT scan) scan revealed a right-sided parietotemporal intra-axial brain lesion with midline shift and significant surrounding edema. The patient was subsequently transferred to our facility for further management. The patient had no significant past medical or surgical history, and his developmental history was normal, aside from reported difficulties in formulating sentences. Upon evaluation on the day of admission to our hospital, the patient was intubated, and brain MRI (Fig. 1 ) was performed. Imaging revealed a large interaxial supratentorial mass lesion occupying the right parietotemporal lobes and extending to the upper midbrain, involving the right thalamus, basal ganglia, and optic tract regions. Notably, there was no invasion of the right middle cerebral artery (MCA). The lesion exhibited heterogeneous signal intensity with areas of necrosis, cystic changes, and internal hemorrhagic foci. Significant surrounding vasogenic edema was present, resulting in a substantial mass effect, which compressed and displaced adjacent ventricles and caused a midline shift of approximately 1.3 cm, with slight uncal herniation. The mass effect on the third ventricle contributes to the left lateral ventricular dilation. These findings raised the suspicion of astrocytoma with anaplastic features, choroid plexus carcinoma, or atypical teratoid rhabdoid tumor (AT/RT). The patient was subsequently transferred to the pediatric ICU, where he remained intubated with NPO (Nothing by Mouth), and was administered levetiracetam, dexamethasone, and mannitol in preparation for surgical intervention. Considering these findings, a right pterional craniotomy was performed on the patient's third hospital day for maximal safe resection of the tumor. The surgery was planned using a transinsular approach due to the tumor's location, primarily occupying the insula and extending to adjacent areas. A pterional approach was utilized, involving decompression of the squama to facilitate dissection of the Sylvian fissure while preserving critical vascular structures, including the lateral lenticulostriate arteries. During the procedure, the insula was exposed, and transcortical dissection was initiated through the middle semicircular sulcus. The tumor, grayish, highly vascularized, and necrotic, was accessed and debulked using a dissecting knife and CUSA aspirator. A hippocampectomy was performed, exposing the ambient cistern filled with tumor, while preserving the oculomotor nerve and vital arteries. Dissection continued to the perinatal operculum and basal ganglia, maintaining the surgical plane established earlier. Tumor samples were taken from both the center and periphery. The surgical field remained stable, without complications or brain swelling. Although prolonged, the surgical procedure proceeded smoothly without complications and with acceptable blood loss. Postoperatively, the patient was extubated and transferred to the pediatric ICU, where he was maintained on antiepileptics, steroids, and antibiotics. On postoperative day one, the patient showed significant neurological improvement. Examination revealed a Glasgow Coma Scale (GCS) score of 15/15. He was conscious, able to obey commands, and showed improved speech. The patient opened his eyes spontaneously, exhibited bilaterally reactive pupils, and demonstrated spontaneous movement of all limbs, with power graded 4/5 in the left lower limb and 5/5 in the other limbs. Notably, there were no seizures, and the mouth deviation resolved. On postoperative day three, a subsequent postoperative MRI (Fig. 2 ) confirmed total tumor resection and demonstrated improvement in midline shift, now measuring 0.7 cm (down from 1.2 cm). Expected postoperative changes were observed, including focal parenchymal defects, air bubbles, and hemorrhagic foci in the surgical bed, along with a heterogeneous structure indicative of the surgical material. There was a marked decrease in left lateral ventricular dilation and a reduced mass effect on the third ventricle, accompanied by small blood products in the dependent part of the right lateral ventricle. The major intracranial flow voids were preserved, and both orbits, paranasal sinuses, and mastoids appeared normal. Routine laboratory tests showed no abnormalities, and physical examination indicated improvement compared to postoperative day one, with the left lower limb power improving to 5/5. The patient was referred to the pediatric ward. Histopathological examination (Fig. 3 ) revealed that the tumor was an atypical teratoid rhabdoid tumor (AT/RT) of CNS WHO grade 4. Histological features (Fig. 3 a) included patternless sheets of malignant blue cells with vesicular chromatin, prominent nucleoli, characteristic pink blobs, tumor cells with variable eosinophilic cytoplasm, numerous atypical mitotic figures, and abundant microvasculature. Extensive necrosis was noted and INI1 nuclear immunoreactivity (Fig. 3 b) was lost in the tumor cells. Following surgical intervention and histopathological diagnosis, the patient was placed on dexamethasone, levetiracetam, and paracetamol, and subsequently referred for pediatric oncology consultation. The treatment plan included two 21-day induction cycles of chemotherapy, which consisted of vincristine, methotrexate, etoposide, cyclophosphamide, and cisplatin. After the induction cycles, peripheral blood stem cells (PBSCs) were collected in preparation for autologous stem cell transplantation (ASCT). The consolidation therapy was planned to include three cycles of carboplatin and thiotepa, supported by the previously collected PBSCs. Discussion And Conclusion According to WHO (World Health Organization) classification of CNS tumors in 2021, embryonal tumors are classified into two primary groups: medulloblastoma and other embryonal tumors. Medulloblastomas are subdivided into molecularly defined categories, including WNT-activated, SHH-activated (further divided into TP53-wild type and TP53-altered), and Non-WNT/Non-SHH, as well as histological types such as desmoplastic nodular medulloblastoma and large cell medulloblastoma. Other CNS embryonal tumors include atypical teratoid/rhabdoid tumor (ATRT), characterized by rhabdoid features and biallelic inactivation of the SMARCB1 gene; cribriform neuroepithelial tumor (CRINET); embryonal tumor with multilayered rosettes (ETMR); CNS neuroblastoma with FOXR2 activation; and CNS tumors with BCOR internal tandem duplication. This classification is based on genetic alterations, revealing the importance of genetic and molecular testing for determining the specific type of tumor which guides the treatment and gives an idea about the prognosis [5,6]. ATRT is a rare embryonal CNS tumor, according to WHO classification it is grade 4 suggesting its high malignant behavior [5]. ATRT primarily affects the pediatric population under 3 years of age, with a male-to- female ratio of 2.7:1 [2]. It constitutes less than 2% of CNS pediatric tumors [2,7,8]. Most of the time ATRT arises from the posterior fossa, with a cerebellopontine angle predilection in pediatric populations [9]. Less common sites include cerebral hemispheres, the pineal region, and the spine. Our case represents a 5-year-old male who had supratentorial ATRT in the parietotemporal region extending into the upper midbrain. Clinical presentation of ATRT varies based on location of tumor. Common symptoms include headaches, seizures, and neurological deficits, which can arise due to increased intracranial pressure or local invasion of brain structures [10]. These non-specific features make the diagnosis harder. Imaging features of ATRT usually overlap with other types of tumors. On MRI ATRT appear as a large heterogeneous mass, with isointense to slightly hyperintense lesions on T1-weighted images and hyperintense on T2-weighted images, often accompanied by central necrosis and cystic components [11]. The tumors exhibit heterogeneous enhancement following contrast administration, with a band-like rim of enhancement surrounding necrotic or cystic areas. The tumors exhibit heterogeneous enhancement following contrast administration, with a band-like rim of enhancement surrounding necrotic or cystic areas. Leptomeningeal dissemination is also common at diagnosis, occurring in a considerable number of pediatric cases. Appearance on CT is less specific; it usually shows hyperattenuation due to high cellularity and can reveal calcifications in some instances [11,12]. The non-specific clinical and radiological characteristics complicate the accurate diagnosis of AT/RT. Consequently, diagnosis primarily relies on histological, immunohistochemical, and molecular characteristics. Histologically, ATRT is characterized by the presence of rhabdoid cells, which are medium to large in size, featuring eccentrically located nuclei, abundant eosinophilic cytoplasm, and prominent nucleoli [6,13]. These rhabdoid cells are often intermingled with areas containing cells that exhibit primitive ("small blue cell") morphology, which typically forms the predominant part [14]. Additional cell types found in ATRT histology may include neuroectodermal, mesenchymal, or epithelial cells [8]. The histological appearance can vary significantly; some tumors exhibit primitive neuroectodermal features, while others may show myxoid, chondroid, or epithelioid characteristics. Recent studies have identified three molecular subgroups of ATRT: ATRT-TYR, ATRT-SHH, and ATRT-MYC, each associated with distinct morphological patterns that may aid in diagnosis and reflect underlying genetic alterations [13]. Immunohistochemical staining in ATRT shows variable positivity for vimentin, epithelial membrane antigen (EMA), smooth muscle actin (SMA), neurofilament protein (NFP), glial fibrillary acidic protein (GFAP), keratin, and desmin [8]. The expression of SMARCB1 (INI1) is recognized as the most sensitive immunohistochemical marker for atypical teratoid/rhabdoid tumor (AT/RT), playing a crucial role in distinguishing it from medulloblastoma and other tumors. Additionally, molecular analyses reveal mutations in the SMARCB1 gene or partial deletions of chromosome 22. It is important to note that traditional staining for Vimentin, smooth muscle actin (SMA), and epithelial membrane antigen (EMA), along with the morphological characteristics of rhabdoid cells, were essential for confirming the diagnosis prior to the advent of INI1 testing. Medulloblastoma is the primary differential diagnosis for AT/RT, but other tumors such as choroid plexus carcinoma, gemistocytic astrocytoma, pilocytic astrocytoma, anaplastic ependymoma, and various embryonal tumors should also be considered [1,2]. It is essential to differentiate AT/RT from medulloblastoma, as the latter is generally more sensitive to radiation and associated with a more favorable prognosis. AT/RT typically occurs at an earlier age, predominantly in children under 3 years old, while medulloblastoma is more frequently diagnosed in children aged 5 to 9 years. Both tumors are uncommon in adults [1,15]. Notably, in our case of AT/RT, significant presentation was observed in a male patient aged 5 years. Timely diagnosis is crucial for CNS tumors, particularly for rare types like AT/RT, for which currently lack established treatment protocols. One of the more recent advances in treatment protocols for pediatric ATRT is the incorporation of autologous stem cell transplantation (ASCT), often alongside multimodal strategy that combines gross resection with radiotherapy and/or high-dose chemotherapy may enhance the prognosis for AT/RT patients. However, early diagnosis and the prompt initiation of appropriate treatment are vital for increasing life expectancy and minimizing iatrogenic complications [2]. The tumor's large size, infiltration into surrounding brain regions, and the young age of patients at diagnosis make complete excision challenging [8]. A cohort study published in 2019 revealed a notable difference in survival rates between patients undergoing complete total resection (CTR) and those receiving subtotal resection (STR). Specifically, of the six patients who achieved CTR, four (66.6%) were alive at follow-up, compared to only one of the eight patients (12.5%) in the STR group, as well as two of the seven patients (29%) in the near total resection (NTR) group [16]. This finding highlights the critical role of maximal surgical resection in improving long-term survival outcomes for ATRT patients, reinforcing the need for aggressive surgical approaches when feasible[8]. Chemoradiation protocols vary widely, especially regarding the use of adjuvant ASCT. Currently, only a limited number of prospective trials have integrated ASCT into their treatment regimens [17]. Initially conducted in 2008 by Gardner et al., the Head Start (HS) trial comprised two variations of the same treatment regimen [18]. This regimen, shared by both HS I and II, involved five cycles of induction with cisplatin, vincristine, cyclophosphamide, and etoposide, followed by consolidation with carboplatin, thiotepa, etoposide, and ultimately, autologous stem cell transplantation (ASCT). The HS II regimen differed only by including high-dose methotrexate in the induction phase. The trial demonstrated that inducing treatment with multiple cycles of chemotherapy followed by consolidation with ASCT results in improved survival outcomes. The ACNS0333 Phase III clinical trial, published in 2020, further supports this approach by utilizing a multimodal strategy that encompasses surgical resection, chemoradiation therapy, and ASCT [19]. Overall, these studies suggest that multimodal therapy, including ASCT, may offer a more effective treatment regimen for pediatric patients with ATRT, despite the aggressive nature of the disease. The prognosis for ATRT is exceedingly unfavorable, as these tumors frequently experience rapid relapse or progression even after intensive surgical treatment, standard chemotherapy, and/or radiation therapy. In infants and young children, the particularly poor prognosis may stem from their reduced tolerance for surgical interventions and delays in diagnosis. Furthermore, the limited application of radiotherapy in very young patients contributes to this poor prognosis due to the potential risks of functional impairment in the developing brain and long-term adverse effects, such as overall reductions in IQ, cognitive deficits, and neuroendocrine issues [20]. In conclusion, this report highlights the critical need for early diagnosis and intervention in managing atypical teratoid/rhabdoid tumor (AT/RT), a rare and aggressive tumor. The complexities associated with the clinical presentation, imaging characteristics, and histopathological features of AT/RT necessitate a multidisciplinary approach to care, integrating neurosurgery, oncology, and supportive therapies. Aggressive surgical resection, combined with contemporary chemotherapy and autologous stem cell transplantation, shows promise for improving survival outcomes. However, the poor prognosis associated with AT/RT emphasizes the urgent need for further research into targeted therapies and innovative treatment strategies to enhance patient outcomes. Abbreviations AT/RT Atypical Teratoid/Rhabdoid Tumor CNS Central Nervous System ASCT Autologous Stem Cell Transplantation GCS Glasgow Coma Scale MRI Magnetic Resonance Imaging CT Computed Tomography MCA Middle Cerebral Artery NPO Nothing by Mouth (Nil Per Os) PBSCs Peripheral Blood Stem Cells RT Radiation Therapy WHO World Health Organization SCARE Surgical Case Report Guidelines Declarations Ethics approval and consent to participate: Our institution does not require ethical approval for reporting individual cases or case series. Consent for publication: Written informed consent was obtained from the patient for publication of this Case Report and any accompanying images. Competing interests: The authors declare that they have no competing interests. Funding: No funding was for this case report. Author Contribution All authors collected data and drafted the manuscript. H.D critically revised the manuscript and supervised the study. M.A performed the pathological analysis. All authors revised the manuscript and approved the final version. Acknowledgements: The authors wish to state that they have opted not to include a formal acknowledgment section in this case report. Availability of data and materials: All data and materials used in this case report are available, and are with the authors. References Ismail S, Ghanem L, Ibrahim L, Abdulrahman M, Alshehabi Z, Issa R. Atypical teratoid/rhabdoid tumor of the central nervous system: Clinicopathological features of two challenging cases. Int J Surg Case Rep 2024;117:109531. https://doi.org/10.1016/j.ijscr.2024.109531. Karim A, Shaikhyzada K, Suleimenova A, Ibraimov B, Nurgaliev D, Poddighe D. 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CNS Oncol 2024;13. https://doi.org/10.1080/20450907.2024.2375960. Gardner SL, Asgharzadeh S, Green A, Horn B, McCowage G, Finlay J. Intensive induction chemotherapy followed by high dose chemotherapy with autologous hematopoietic progenitor cell rescue in young children newly diagnosed with central nervous system atypical teratoid rhabdoid tumors. Pediatr Blood Cancer 2008;51:235–40. https://doi.org/10.1002/pbc.21578. Reddy AT, Strother DR, Judkins AR, Burger PC, Pollack IF, Krailo MD, et al. Efficacy of High-Dose Chemotherapy and Three-Dimensional Conformal Radiation for Atypical Teratoid/Rhabdoid Tumor: A Report From the Children’s Oncology Group Trial ACNS0333. Journal of Clinical Oncology 2020;38:1175–85. https://doi.org/10.1200/JCO.19.01776. Park ES, Sung KW, Baek HJ, Park KD, Park HJ, Won SC, et al. Tandem High-Dose Chemotherapy and Autologous Stem Cell Transplantation in Young Children with Atypical Teratoid/Rhabdoid Tumor of the Central Nervous System. J Korean Med Sci 2012;27:135. https://doi.org/10.3346/jkms.2012.27.2.135. Additional Declarations No competing interests reported. Cite Share Download PDF Status: Posted Version 1 posted You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. Our growing team is made up of researchers and industry professionals working together to solve the most critical problems facing scientific publishing. Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-5875526","acceptedTermsAndConditions":true,"allowDirectSubmit":true,"archivedVersions":[],"articleType":"Case Report","associatedPublications":[],"authors":[{"id":406184236,"identity":"f36dbd75-61ec-4094-b1f9-2f572b3b8ee0","order_by":0,"name":"Waleed 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Hospital","correspondingAuthor":false,"prefix":"","firstName":"Hadi","middleName":"","lastName":"Dababseh","suffix":""},{"id":406184241,"identity":"d95ce32c-4477-4d9a-a83a-c227a1f0360d","order_by":5,"name":"Mohanad Abulihya","email":"","orcid":"","institution":"Al-Istishari Hospital","correspondingAuthor":false,"prefix":"","firstName":"Mohanad","middleName":"","lastName":"Abulihya","suffix":""}],"badges":[],"createdAt":"2025-01-21 18:53:31","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-5875526/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-5875526/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":75311526,"identity":"b5f157fd-7571-430b-8e11-76fe54e51fe1","added_by":"auto","created_at":"2025-02-03 09:09:23","extension":"jpeg","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":19749,"visible":true,"origin":"","legend":"\u003cp\u003ePreoperative T1-weighted MRI in the coronal section showing a large interaxial supratentorial mass lesion occupying the right parietotemporal lobes and extending to the upper midbrain (red arrow).\u003c/p\u003e","description":"","filename":"floatimage1.jpeg","url":"https://assets-eu.researchsquare.com/files/rs-5875526/v1/75bbce853fa804a02f89ecd9.jpeg"},{"id":75311521,"identity":"fa29769e-2f71-4c54-b302-18257ab350cf","added_by":"auto","created_at":"2025-02-03 09:09:22","extension":"png","order_by":2,"title":"Figure 2","display":"","copyAsset":false,"role":"figure","size":185292,"visible":true,"origin":"","legend":"\u003cp\u003ePostoperative T1-weighted MRI in the coronal section confirming total tumor resection.\u003c/p\u003e","description":"","filename":"floatimage2.png","url":"https://assets-eu.researchsquare.com/files/rs-5875526/v1/b99b88d912f8cec45cb97508.png"},{"id":75311573,"identity":"f35fa629-f8f3-4b46-983b-7c4de91036da","added_by":"auto","created_at":"2025-02-03 09:09:26","extension":"png","order_by":3,"title":"Figure 3","display":"","copyAsset":false,"role":"figure","size":1732116,"visible":true,"origin":"","legend":"\u003cp\u003ea: Patternless sheets of densely packed, malignant blue cells with round to oval nuclei, vacuolated chromatin and scattered inconspicuous nucleoli. b: INI1 nuclear immunoreactivity is lost in tumor cells (retained in the endothelial cells).\u003c/p\u003e","description":"","filename":"floatimage3.png","url":"https://assets-eu.researchsquare.com/files/rs-5875526/v1/3ebb00c0a98fd3a5b1f1213b.png"},{"id":79332834,"identity":"3597b682-08b6-4fca-9fc2-2229c611938b","added_by":"auto","created_at":"2025-03-27 07:02:55","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":2086626,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-5875526/v1/fa3f4927-4920-4f6d-b688-5df8da573ac7.pdf"}],"financialInterests":"No competing interests reported.","formattedTitle":"Parietotemporal atypical teratoid/rhabdoid tumor (ATRT) in a 5 years old male: A Case Report","fulltext":[{"header":"Background","content":"\u003cp\u003eAtypical teratoid/rhabdoid tumor (AT/RT) is a rare and highly aggressive embryonal tumor of the central nervous system (CNS). AT/RT was first described in 1985. This rare tumor occurs with an annual incidence of 0.7 cases per 1,000,000 and is the most prevalent CNS tumor in children under 6 months of age [1]. The typical age of presentation is usually under 3 years, although cases have been documented in older children and adults [1,2]. This tumor is marked by rapid growth and dissemination within the cerebrospinal fluid, resulting in a poor prognosis, with patients diagnosed with ATRT typically having a median survival time of only a few months post-diagnosis [2]. The effectiveness of various treatment options has been investigated to enhance survival rates for ATRT patients [3]. However, a definitive treatment strategy for ATRT has yet to be established. A significant recent advancement in treatment protocols for pediatric ATRT is the incorporation of autologous stem cell transplantation (ASCT), which is often used in conjunction with multimodal therapy that includes surgery, followed by chemotherapy and radiation therapy (RT).\u003c/p\u003e \u003cp\u003eIn this report, we present a case of AT/RT to illustrate the clinical presentation, diagnostic challenges, and treatment considerations associated with this rare and aggressive CNS tumor. This case report has been reported in accordance with the\u003c/p\u003e \u003cp\u003eSCARE (Surgical Case Report Guidelines) criteria [4].\u003c/p\u003e"},{"header":"Case presentation","content":"\u003cp\u003eWe present the case of a 5-year-old male who was referred to our neurosurgical department with a three-day history of left-sided body weakness, predominantly affecting the lower extremity. In addition, the patient exhibited right-sided mouth deviation, generalized hypoactivity, and confusion. He had been in his usual state of health until the acute onset of these symptoms three days prior. The patient initially sought medical attention at another hospital, where a brain A computed tomography scan (CT scan) scan revealed a right-sided parietotemporal intra-axial brain lesion with midline shift and significant surrounding edema. The patient was subsequently transferred to our facility for further management. The patient had no significant past medical or surgical history, and his developmental history was normal, aside from reported difficulties in formulating sentences. Upon evaluation on the day of admission to our hospital, the patient was intubated, and brain MRI (Fig.\u0026nbsp;\u003cspan refid=\"Fig1\" class=\"InternalRef\"\u003e1\u003c/span\u003e) was performed. Imaging revealed a large interaxial supratentorial mass lesion occupying the right parietotemporal lobes and extending to the upper midbrain, involving the right thalamus, basal ganglia, and optic tract regions. Notably, there was no invasion of the right middle cerebral artery (MCA). The lesion exhibited heterogeneous signal intensity with areas of necrosis, cystic changes, and internal hemorrhagic foci. Significant surrounding vasogenic edema was present, resulting in a substantial mass effect, which compressed and displaced adjacent ventricles and caused a midline shift of approximately 1.3 cm, with slight uncal herniation. The mass effect on the third ventricle contributes to the left lateral ventricular dilation. These findings raised the suspicion of astrocytoma with anaplastic features, choroid plexus carcinoma, or atypical teratoid rhabdoid tumor (AT/RT). The patient was subsequently transferred to the pediatric ICU, where he remained intubated with NPO (Nothing by Mouth), and was administered levetiracetam, dexamethasone, and mannitol in preparation for surgical intervention.\u003c/p\u003e \u003cp\u003e \u003c/p\u003e \u003cp\u003eConsidering these findings, a right pterional craniotomy was performed on the patient's third hospital day for maximal safe resection of the tumor. The surgery was planned using a transinsular approach due to the tumor's location, primarily occupying the insula and extending to adjacent areas. A pterional approach was utilized, involving decompression of the squama to facilitate dissection of the Sylvian fissure while preserving critical vascular structures, including the lateral lenticulostriate arteries. During the procedure, the insula was exposed, and transcortical dissection was initiated through the middle semicircular sulcus. The tumor, grayish, highly vascularized, and necrotic, was accessed and debulked using a dissecting knife and CUSA aspirator. A hippocampectomy was performed, exposing the ambient cistern filled with tumor, while preserving the oculomotor nerve and vital arteries. Dissection continued to the perinatal operculum and basal ganglia, maintaining the surgical plane established earlier. Tumor samples were taken from both the center and periphery. The surgical field remained stable, without complications or brain swelling. Although prolonged, the surgical procedure proceeded smoothly without complications and with acceptable blood loss. Postoperatively, the patient was extubated and transferred to the pediatric ICU, where he was maintained on antiepileptics, steroids, and antibiotics. On postoperative day one, the patient showed significant neurological improvement. Examination revealed a Glasgow Coma Scale (GCS) score of 15/15. He was conscious, able to obey commands, and showed improved speech. The patient opened his eyes spontaneously, exhibited bilaterally reactive pupils, and demonstrated spontaneous movement of all limbs, with power graded 4/5 in the left lower limb and 5/5 in the other limbs. Notably, there were no seizures, and the mouth deviation resolved.\u003c/p\u003e \u003cp\u003eOn postoperative day three, a subsequent postoperative MRI (Fig.\u0026nbsp;\u003cspan refid=\"Fig2\" class=\"InternalRef\"\u003e2\u003c/span\u003e) confirmed total tumor resection and demonstrated improvement in midline shift, now measuring 0.7 cm (down from 1.2 cm). Expected postoperative changes were observed, including focal parenchymal defects, air bubbles, and hemorrhagic foci in the surgical bed, along with a heterogeneous structure indicative of the surgical material. There was a marked decrease in left lateral ventricular dilation and a reduced mass effect on the third ventricle, accompanied by small blood products in the dependent part of the right lateral ventricle. The major intracranial flow voids were preserved, and both orbits, paranasal sinuses, and mastoids appeared normal. Routine laboratory tests showed no abnormalities, and physical examination indicated improvement compared to postoperative day one, with the left lower limb power improving to 5/5. The patient was referred to the pediatric ward.\u003c/p\u003e \u003cp\u003e \u003c/p\u003e \u003cp\u003eHistopathological examination (Fig.\u0026nbsp;\u003cspan refid=\"Fig3\" class=\"InternalRef\"\u003e3\u003c/span\u003e) revealed that the tumor was an atypical teratoid rhabdoid tumor (AT/RT) of CNS WHO grade 4. Histological features (Fig.\u0026nbsp;\u003cspan refid=\"Fig3\" class=\"InternalRef\"\u003e3\u003c/span\u003ea) included patternless sheets of malignant blue cells with vesicular chromatin, prominent nucleoli, characteristic pink blobs, tumor cells with variable eosinophilic cytoplasm, numerous atypical mitotic figures, and abundant microvasculature. Extensive necrosis was noted and INI1 nuclear immunoreactivity (Fig.\u0026nbsp;\u003cspan refid=\"Fig3\" class=\"InternalRef\"\u003e3\u003c/span\u003eb) was lost in the tumor cells.\u003c/p\u003e \u003cp\u003e \u003c/p\u003e \u003cp\u003eFollowing surgical intervention and histopathological diagnosis, the patient was placed on dexamethasone, levetiracetam, and paracetamol, and subsequently referred for pediatric oncology consultation. The treatment plan included two 21-day induction cycles of chemotherapy, which consisted of vincristine, methotrexate, etoposide, cyclophosphamide, and cisplatin. After the induction cycles, peripheral blood stem cells (PBSCs) were collected in preparation for autologous stem cell transplantation (ASCT). The consolidation therapy was planned to include three cycles of carboplatin and thiotepa, supported by the previously collected PBSCs.\u003c/p\u003e"},{"header":"Discussion And Conclusion","content":" \u003cdiv id=\"Sec3\" class=\"Section2\"\u003e \u003cp\u003eAccording to WHO (World Health Organization) classification of CNS tumors in 2021, embryonal tumors are classified into two primary groups: medulloblastoma and other embryonal tumors. Medulloblastomas are subdivided into molecularly defined categories, including WNT-activated, SHH-activated (further divided into TP53-wild type and TP53-altered), and Non-WNT/Non-SHH, as well as histological types such as desmoplastic nodular medulloblastoma and large cell medulloblastoma. Other CNS embryonal tumors include atypical teratoid/rhabdoid tumor (ATRT), characterized by rhabdoid features and biallelic inactivation of the SMARCB1 gene; cribriform neuroepithelial tumor (CRINET); embryonal tumor with multilayered rosettes (ETMR); CNS neuroblastoma with FOXR2 activation; and CNS tumors with BCOR internal tandem duplication. This classification is based on genetic alterations, revealing the importance of genetic and molecular testing for determining the specific type of tumor which guides the treatment and gives an idea about the prognosis [5,6].\u003c/p\u003e \u003cp\u003eATRT is a rare embryonal CNS tumor, according to WHO classification it is grade 4 suggesting its high malignant behavior [5]. ATRT primarily affects the pediatric population under 3 years of age, with a male-to- female ratio of 2.7:1 [2]. It constitutes less than 2% of CNS pediatric tumors [2,7,8]. Most of the time ATRT arises from the posterior fossa, with a cerebellopontine angle predilection in pediatric populations [9]. Less common sites include cerebral hemispheres, the pineal region, and the spine. Our case represents a 5-year-old male who had supratentorial ATRT in the parietotemporal region extending into the upper midbrain. Clinical presentation of ATRT varies based on location of tumor. Common symptoms include headaches, seizures, and neurological deficits, which can arise due to increased intracranial pressure or local invasion of brain structures [10]. These non-specific features make the diagnosis harder.\u003c/p\u003e \u003cp\u003eImaging features of ATRT usually overlap with other types of tumors. On MRI ATRT appear as a large heterogeneous mass, with isointense to slightly hyperintense lesions on T1-weighted images and hyperintense on T2-weighted images, often accompanied by central necrosis and cystic components [11]. The tumors exhibit heterogeneous enhancement following contrast administration, with a band-like rim of enhancement surrounding necrotic or cystic areas. The tumors exhibit heterogeneous enhancement following contrast administration, with a band-like rim of enhancement surrounding necrotic or cystic areas. Leptomeningeal dissemination is also common at diagnosis, occurring in a considerable number of pediatric cases. Appearance on CT is less specific; it usually shows hyperattenuation due to high cellularity and can reveal calcifications in some instances [11,12].\u003c/p\u003e \u003cp\u003eThe non-specific clinical and radiological characteristics complicate the accurate diagnosis of AT/RT. Consequently, diagnosis primarily relies on histological, immunohistochemical, and molecular characteristics. Histologically, ATRT is characterized by the presence of rhabdoid cells, which are medium to large in size, featuring eccentrically located nuclei, abundant eosinophilic cytoplasm, and prominent nucleoli [6,13]. These rhabdoid cells are often intermingled with areas containing cells that exhibit primitive (\"small blue cell\") morphology, which typically forms the predominant part [14]. Additional cell types found in ATRT histology may include neuroectodermal, mesenchymal, or epithelial cells [8]. The histological appearance can vary significantly; some tumors exhibit primitive neuroectodermal features, while others may show myxoid, chondroid, or epithelioid characteristics. Recent studies have identified three molecular subgroups of ATRT: ATRT-TYR, ATRT-SHH, and ATRT-MYC, each associated with distinct morphological patterns that may aid in diagnosis and reflect underlying genetic alterations [13]. Immunohistochemical staining in ATRT shows variable positivity for vimentin, epithelial membrane antigen (EMA), smooth muscle actin (SMA), neurofilament protein (NFP), glial fibrillary acidic protein (GFAP), keratin, and desmin [8]. The expression of SMARCB1 (INI1) is recognized as the most sensitive immunohistochemical marker for atypical teratoid/rhabdoid tumor (AT/RT), playing a crucial role in distinguishing it from medulloblastoma and other tumors. Additionally, molecular analyses reveal mutations in the SMARCB1 gene or partial deletions of chromosome 22. It is important to note that traditional staining for Vimentin, smooth muscle actin (SMA), and epithelial membrane antigen (EMA), along with the morphological characteristics of rhabdoid cells, were essential for confirming the diagnosis prior to the advent of INI1 testing.\u003c/p\u003e \u003cp\u003eMedulloblastoma is the primary differential diagnosis for AT/RT, but other tumors such as choroid plexus carcinoma, gemistocytic astrocytoma, pilocytic astrocytoma, anaplastic ependymoma, and various embryonal tumors should also be considered [1,2]. It is essential to differentiate AT/RT from medulloblastoma, as the latter is generally more sensitive to radiation and associated with a more favorable prognosis. AT/RT typically occurs at an earlier age, predominantly in children under 3 years old, while medulloblastoma is more frequently diagnosed in children aged 5 to 9 years. Both tumors are uncommon in adults [1,15]. Notably, in our case of AT/RT, significant presentation was observed in a male patient aged 5 years.\u003c/p\u003e \u003cp\u003eTimely diagnosis is crucial for CNS tumors, particularly for rare types like AT/RT, for which currently lack established treatment protocols. One of the more recent advances in treatment protocols for pediatric ATRT is the incorporation of autologous stem cell transplantation (ASCT), often alongside multimodal strategy that combines gross resection with radiotherapy and/or high-dose chemotherapy may enhance the prognosis for AT/RT patients. However, early diagnosis and the prompt initiation of appropriate treatment are vital for increasing life expectancy and minimizing iatrogenic complications [2]. The tumor's large size, infiltration into surrounding brain regions, and the young age of patients at diagnosis make complete excision challenging [8]. A cohort study published in 2019 revealed a notable difference in survival rates between patients undergoing complete total resection (CTR) and those receiving subtotal resection (STR). Specifically, of the six patients who achieved CTR, four (66.6%) were alive at follow-up, compared to only one of the eight patients (12.5%) in the STR group, as well as two of the seven patients (29%) in the near total resection (NTR) group [16]. This finding highlights the critical role of maximal surgical resection in improving long-term survival outcomes for ATRT patients, reinforcing the need for aggressive surgical approaches when feasible[8]. Chemoradiation protocols vary widely, especially regarding the use of adjuvant ASCT. Currently, only a limited number of prospective trials have integrated ASCT into their treatment regimens [17]. Initially conducted in 2008 by Gardner et al., the Head Start (HS) trial comprised two variations of the same treatment regimen [18]. This regimen, shared by both HS I and II, involved five cycles of induction with cisplatin, vincristine, cyclophosphamide, and etoposide, followed by consolidation with carboplatin, thiotepa, etoposide, and ultimately, autologous stem cell transplantation (ASCT). The HS II regimen differed only by including high-dose methotrexate in the induction phase. The trial demonstrated that inducing treatment with multiple cycles of chemotherapy followed by consolidation with ASCT results in improved survival outcomes. The ACNS0333 Phase III clinical trial, published in 2020, further supports this approach by utilizing a multimodal strategy that encompasses surgical resection, chemoradiation therapy, and ASCT [19]. Overall, these studies suggest that multimodal therapy, including ASCT, may offer a more effective treatment regimen for pediatric patients with ATRT, despite the aggressive nature of the disease.\u003c/p\u003e \u003cp\u003eThe prognosis for ATRT is exceedingly unfavorable, as these tumors frequently experience rapid relapse or progression even after intensive surgical treatment, standard chemotherapy, and/or radiation therapy. In infants and young children, the particularly poor prognosis may stem from their reduced tolerance for surgical interventions and delays in diagnosis. Furthermore, the limited application of radiotherapy in very young patients contributes to this poor prognosis due to the potential risks of functional impairment in the developing brain and long-term adverse effects, such as overall reductions in IQ, cognitive deficits, and neuroendocrine issues [20].\u003c/p\u003e \u003cp\u003eIn conclusion, this report highlights the critical need for early diagnosis and intervention in managing atypical teratoid/rhabdoid tumor (AT/RT), a rare and aggressive tumor. The complexities associated with the clinical presentation, imaging characteristics, and histopathological features of AT/RT necessitate a multidisciplinary approach to care, integrating neurosurgery, oncology, and supportive therapies. Aggressive surgical resection, combined with contemporary chemotherapy and autologous stem cell transplantation, shows promise for improving survival outcomes. However, the poor prognosis associated with AT/RT emphasizes the urgent need for further research into targeted therapies and innovative treatment strategies to enhance patient outcomes.\u003c/p\u003e \u003c/div\u003e"},{"header":"Abbreviations","content":"\u003cdiv class=\"DefinitionList\"\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eAT/RT\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eAtypical Teratoid/Rhabdoid Tumor\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eCNS\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eCentral Nervous System\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eASCT\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eAutologous Stem Cell Transplantation\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eGCS\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eGlasgow Coma Scale\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eMRI\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eMagnetic Resonance Imaging\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eCT\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eComputed Tomography\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eMCA\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eMiddle Cerebral Artery\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eNPO\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eNothing by Mouth (Nil Per Os)\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003ePBSCs\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003ePeripheral Blood Stem Cells\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eRT\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eRadiation Therapy\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eWHO\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eWorld Health Organization\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eSCARE\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eSurgical Case Report Guidelines\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003c/div\u003e"},{"header":"Declarations","content":" \u003cp\u003e \u003cstrong\u003eEthics approval and consent to participate:\u003c/strong\u003e \u003cp\u003eOur institution does not require ethical approval for reporting individual cases or case series.\u003c/p\u003e \u003c/p\u003e \u003cp\u003e \u003cstrong\u003eConsent for publication:\u003c/strong\u003e \u003cp\u003e Written informed consent was obtained from the patient for publication of this Case Report and any accompanying images.\u003c/p\u003e \u003c/p\u003e\u003cp\u003e \u003ch2\u003eCompeting interests:\u003c/h2\u003e \u003cp\u003eThe authors declare that they have no competing interests.\u003c/p\u003e \u003c/p\u003e\u003ch2\u003eFunding:\u003c/h2\u003e \u003cp\u003eNo funding was for this case report.\u003c/p\u003e\u003ch2\u003eAuthor Contribution\u003c/h2\u003e\u003cp\u003eAll authors collected data and drafted the manuscript. H.D critically revised the manuscript and supervised the study. M.A performed the pathological analysis. All authors revised the manuscript and approved the final version.\u003c/p\u003e\u003ch2\u003eAcknowledgements:\u003c/h2\u003e \u003cp\u003eThe authors wish to state that they have opted not to include a formal acknowledgment section in this case report.\u003c/p\u003e\u003ch2\u003eAvailability of data and materials:\u003c/h2\u003e \u003cp\u003eAll data and materials used in this case report are available, and are with the authors.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\n\u003cli\u003eIsmail S, Ghanem L, Ibrahim L, Abdulrahman M, Alshehabi Z, Issa R. Atypical teratoid/rhabdoid tumor of the central nervous system: Clinicopathological features of two challenging cases. Int J Surg Case Rep 2024;117:109531. https://doi.org/10.1016/j.ijscr.2024.109531.\u003c/li\u003e\n\u003cli\u003eKarim A, Shaikhyzada K, Suleimenova A, Ibraimov B, Nurgaliev D, Poddighe D. Case report: Atypical teratoid/rhabdoid tumor of the lateral ventricle in a male adolescent (case-based review and diagnostic challenges in developing countries). Front Oncol 2022;12. https://doi.org/10.3389/fonc.2022.985862.\u003c/li\u003e\n\u003cli\u003ePark ES, Sung KW, Baek HJ, Park KD, Park HJ, Won SC, et al. Tandem High-Dose Chemotherapy and Autologous Stem Cell Transplantation in Young Children with Atypical Teratoid/Rhabdoid Tumor of the Central Nervous System. J Korean Med Sci 2012;27:135. https://doi.org/10.3346/jkms.2012.27.2.135.\u003c/li\u003e\n\u003cli\u003eSohrabi C, Mathew G, Maria N, Kerwan A, Franchi T, Agha RA. The SCARE 2023 guideline: updating consensus Surgical CAse REport (SCARE) guidelines. International Journal of Surgery 2023;109:1136\u0026ndash;40. https://doi.org/10.1097/JS9.0000000000000373.\u003c/li\u003e\n\u003cli\u003eTorp SH, Solheim O, Skjulsvik AJ. The WHO 2021 Classification of Central Nervous System tumours: a practical update on what neurosurgeons need to know\u0026mdash;a minireview. Acta Neurochir (Wien) 2022;164:2453\u0026ndash;64. https://doi.org/10.1007/s00701-022-05301-y.\u003c/li\u003e\n\u003cli\u003eLouis DN, Perry A, Wesseling P, Brat DJ, Cree IA, Figarella-Branger D, et al. The 2021 WHO Classification of Tumors of the Central Nervous System: a summary. Neuro Oncol 2021;23:1231\u0026ndash;51. https://doi.org/10.1093/neuonc/noab106.\u003c/li\u003e\n\u003cli\u003eMajor K, Daggubati LC, Mau C, Zacharia B, Glantz M, Pu C. Sellar Atypical Teratoid/Rhabdoid Tumors (AT/RT): A Systematic Review and Case Illustration. Cureus 2022. https://doi.org/10.7759/cureus.26838.\u003c/li\u003e\n\u003cli\u003eParenrengi MA, Permana GI, Suryaningtyas W, Fauziah D. The aggressive progression of primary intracranial atypical teratoid/rhabdoid tumor after surgical resection: A case report. Int J Surg Case Rep 2022;91:106790. https://doi.org/10.1016/j.ijscr.2022.106790.\u003c/li\u003e\n\u003cli\u003eGeorgountzos G, Gkalonakis I, Kyriakopoulos G, Doukaki C, Vassiliadi DA, Barkas K. A rare case of atypical teratoid rhabdoid tumor at the sellar region in an adult: Case report and review of literature. Brain and Spine 2024;4:104138. https://doi.org/10.1016/j.bas.2024.104138.\u003c/li\u003e\n\u003cli\u003eRorke LB, Packer RJ, Biegel JA. Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity. J Neurosurg 1996;85:56\u0026ndash;65. https://doi.org/10.3171/jns.1996.85.1.0056.\u003c/li\u003e\n\u003cli\u003eCalandrelli R, Massimi L, Pilato F, Verdolotti T, Ruggiero A, Attin\u0026agrave; G, et al. Atypical Teratoid Rhabdoid Tumor: Proposal of a Diagnostic Pathway Based on Clinical Features and Neuroimaging Findings. Diagnostics 2023;13:475. https://doi.org/10.3390/diagnostics13030475.\u003c/li\u003e\n\u003cli\u003eZuccoli G, Izzi G, Bacchini E, Tondelli MT, Ferrozzi F, Bellomi M. Central nervous system atypical teratoid/rhabdoid tumour of infancy. Clin Imaging 1999;23:356\u0026ndash;60. https://doi.org/10.1016/S0899-7071(99)00165-5.\u003c/li\u003e\n\u003cli\u003eZin F, Cotter JA, Haberler C, Dottermusch M, Neumann J, Sch\u0026uuml;ller U, et al. Histopathological patterns in atypical teratoid/rhabdoid tumors are related to molecular subgroup. Brain Pathology 2021;31. https://doi.org/10.1111/bpa.12967.\u003c/li\u003e\n\u003cli\u003eNesvick CL, Lafay-Cousin L, Raghunathan A, Bouffet E, Huang AA, Daniels DJ. Atypical teratoid rhabdoid tumor: molecular insights and translation to novel therapeutics. J Neurooncol 2020;150:47\u0026ndash;56. https://doi.org/10.1007/s11060-020-03639-w.\u003c/li\u003e\n\u003cli\u003eChan V, Marro A, Findlay JM, Schmitt LM, Das S. A Systematic Review of Atypical Teratoid Rhabdoid Tumor in Adults. Front Oncol 2018;8. https://doi.org/10.3389/fonc.2018.00567.\u003c/li\u003e\n\u003cli\u003eRichards A, Ved R, Murphy C, Hennigan D, Kilday J-P, Kamaly-Asl I, et al. Outcomes with respect to extent of surgical resection for pediatric atypical teratoid rhabdoid tumors. Child\u0026rsquo;s Nervous System 2020;36:713\u0026ndash;9. https://doi.org/10.1007/s00381-019-04478-5.\u003c/li\u003e\n\u003cli\u003eGriffith-Linsley J, Bell WR, Cohen-Gadol A, Donegan D, Richardson A, Robertson M, et al. Autologous stem cell transplantation in adults with atypical teratoid rhabdoid tumor: a case report and review. CNS Oncol 2024;13. https://doi.org/10.1080/20450907.2024.2375960.\u003c/li\u003e\n\u003cli\u003eGardner SL, Asgharzadeh S, Green A, Horn B, McCowage G, Finlay J. Intensive induction chemotherapy followed by high dose chemotherapy with autologous hematopoietic progenitor cell rescue in young children newly diagnosed with central nervous system atypical teratoid rhabdoid tumors. Pediatr Blood Cancer 2008;51:235\u0026ndash;40. https://doi.org/10.1002/pbc.21578.\u003c/li\u003e\n\u003cli\u003eReddy AT, Strother DR, Judkins AR, Burger PC, Pollack IF, Krailo MD, et al. Efficacy of High-Dose Chemotherapy and Three-Dimensional Conformal Radiation for Atypical Teratoid/Rhabdoid Tumor: A Report From the Children\u0026rsquo;s Oncology Group Trial ACNS0333. Journal of Clinical Oncology 2020;38:1175\u0026ndash;85. https://doi.org/10.1200/JCO.19.01776.\u003c/li\u003e\n\u003cli\u003ePark ES, Sung KW, Baek HJ, Park KD, Park HJ, Won SC, et al. Tandem High-Dose Chemotherapy and Autologous Stem Cell Transplantation in Young Children with Atypical Teratoid/Rhabdoid Tumor of the Central Nervous System. J Korean Med Sci 2012;27:135. https://doi.org/10.3346/jkms.2012.27.2.135.\u003c/li\u003e\n\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":true,"highlight":"","institution":"","isAcceptedByJournal":false,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true},"keywords":"Atypical teratoid/rhabdoid tumor, central nervous system tumors, pediatric oncology, chemotherapy, stem cell transplantation, INI1, multidisciplinary approach","lastPublishedDoi":"10.21203/rs.3.rs-5875526/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-5875526/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003ch2\u003eBackground\u003c/h2\u003e \u003cp\u003eAtypical teratoid/rhabdoid tumor (AT/RT) is a rare and highly aggressive embryonal tumor of the central nervous system (CNS), primarily affecting children under three years of age. Characterized by rapid growth and dissemination, AT/RT has a poor prognosis, with median survival times often measured in months. Recent advances in treatment, including autologous stem cell transplantation (ASCT), aim to improve outcomes but lack a definitive protocol.\u003c/p\u003e\u003ch2\u003eCase Presentation\u003c/h2\u003e \u003cp\u003e: We report a case of a 5-year-old male presenting with acute left-sided weakness, right-sided mouth deviation, and confusion. Initial imaging at another facility revealed a right parietotemporal intra-axial lesion with significant edema and midline shift. Upon transfer to our institution, Magnetic resonance imaging (MRI) confirmed a large supratentorial mass involving critical structures without invasion of major arteries. Surgical intervention was necessary, and a right pterional craniotomy was performed for maximal safe resection. During surgery, the tumor was identified as grayish, highly vascularized, and necrotic. Successful debulking was achieved, with careful preservation of surrounding neural structures. Postoperatively, the patient demonstrated significant neurological improvement, with a Glasgow Coma Scale (GCS) score of 15/15. Histopathological examination confirmed the diagnosis of AT/RT, WHO grade 4, characterized by malignant blue cells and loss of INI1 immunoreactivity.\u003c/p\u003e\u003ch2\u003eConclusion\u003c/h2\u003e \u003cp\u003eThis case underscores the importance of early diagnosis and aggressive intervention in managing AT/RT. The complexities of its presentation and imaging necessitate a multidisciplinary approach, integrating neurosurgery and oncology. Our findings support the use of surgical resection, contemporary chemotherapy, and ASCT as part of a multimodal treatment strategy to enhance survival outcomes. However, the inherent aggressiveness of AT/RT highlights the urgent need for innovative treatments and further research to improve prognoses for affected patients.\u003c/p\u003e","manuscriptTitle":"Parietotemporal atypical teratoid/rhabdoid tumor (ATRT) in a 5 years old male: A Case Report","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2025-02-03 09:08:52","doi":"10.21203/rs.3.rs-5875526/v1","editorialEvents":[{"type":"communityComments","content":0}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"140a68ff-6359-485f-a66e-d23a7bc264e4","owner":[],"postedDate":"February 3rd, 2025","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"posted","subjectAreas":[],"tags":[],"updatedAt":"2025-03-27T06:54:40+00:00","versionOfRecord":[],"versionCreatedAt":"2025-02-03 09:08:52","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-5875526","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-5875526","identity":"rs-5875526","version":["v1"]},"buildId":"8U1c8b4HqxoKbykW_rLl7","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}