Nasosinusal Rhabdomyosarcoma in Childhood: Clinical Presentation and Therapeutic Challenges

Nasosinusal Rhabdomyosarcoma in Childhood: Clinical Presentation and Therapeutic Challenges | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Case Report Nasosinusal Rhabdomyosarcoma in Childhood: Clinical Presentation and Therapeutic Challenges JIHENE AYARI, Balti Mehdi, Haddaoui Abderrazek This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-6229266/v1 This work is licensed under a CC BY 4.0 License Status: Posted Version 1 posted You are reading this latest preprint version Abstract Embryonal rhabdomyosarcoma (RMS) of the nasosinusal region is an uncommon pediatric malignancy, with an estimated incidence of 4.3 cases per million children annually. This report presents a case of embryonal nasosinusal RMS in a 12-year-old child managed at our institution, alongside a review of the literature. We discuss the epidemiology, diagnostic challenges, and therapeutic approaches associated with this rare tumor, providing insights to enhance clinical management and improve prognosis in pediatric patients. Oncology Otorhinolaryngology Embryonal rhabdomyosarcoma tumor Figures Figure 1 Figure 2 Introduction Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children, originating from primitive mesenchymal cells with skeletal muscle differentiation. The nasosinusal region is an uncommon primary site, representing a diagnostic challenge due to nonspecific symptoms that mimic benign inflammatory conditions. Treatment strategies are multimodal, involving chemotherapy, surgery, and radiotherapy. Prognostic factors include tumor histology, size, location, and metastatic spread. This report describes a case of embryonal RMS of the nasosinusal region and reviews recent advancements in diagnosis and management. Case Report A 12-year-old male with no significant medical history presented with progressive bilateral nasal obstruction and purulent rhinorrhea persisting for five months despite medical treatment. Physical examination revealed an obstructive mass in the right nasal cavity without cervical lymphadenopathy or cranial nerve involvement. Imaging studies, including sinus CT, showed bilateral nasosinusal polyposis. MRI confirmed a Type IV nasosinusal lesion with posterior extension to the nasopharynx. The patient underwent polypectomy, and histopathological examination confirmed embryonal RMS, botryoid subtype. Immunohistochemistry demonstrated positivity for desmin and myogenin, with negativity for caldesmon. A metastatic workup, including thoraco-abdomino-pelvic CT and cerebrospinal fluid analysis, revealed no distant disease. The patient was classified as high-risk, subgroup E, and enrolled in the RMS 2005 protocol. He received three cycles of vincristine, actinomycin D, and ifosfamide (IVA) with good clinical and hematological tolerance. Treatment evaluation after three cycles guided the decision for locoregional therapy (radiotherapy ± additional surgery) and six additional cycles of IVA every three weeks. At treatment completion, the patient achieved complete remission, with no evidence of disease recurrence after ten years of follow-up. Discussion RMS accounts for approximately 60–70% of pediatric soft tissue sarcomas. The nasosinusal variant is rare, posing diagnostic and therapeutic challenges. Early symptoms often mimic chronic rhinosinusitis, delaying diagnosis ( 1 , 2 ). Recent studies have shown that the annual incidence of RMS in children remains stable, with about 4.3 cases per million children per year, although incidence rates vary by region and age group. The peak incidence occurs in children under 10 years old, with a notable increase in cases between 1 and 4 years of age ( 3 ). Recent data also suggest that alveolar RMS, associated with specific chromosomal translocations (t(2;13)(q35;q14) and t(1;13)(q36;q14)), is more commonly seen in adolescents, and is associated with a less favorable prognosis compared to the embryonal forms ( 4 ). MRI remains the imaging modality of choice for assessing tumor extent and involvement of adjacent structures. Histopathological and immunohistochemical confirmation is essential. Embryonal RMS is characterized by desmin and myogenin positivity, distinguishing it from other sinonasal tumors. Cytogenetic analysis has identified PAX3 and PAX7 gene alterations as significant diagnostic and prognostic markers. Treatment follows a risk-adapted multimodal approach. Chemotherapy remains the cornerstone, with IVA as the standard regimen for high-risk cases. Radiation therapy is employed for local control, particularly in cases where complete surgical resection is unfeasible. Advanced modalities, such as intensity-modulated radiation therapy (IMRT), improve precision while minimizing toxicity. Survival rates vary based on histology and metastasis status. Botryoid embryonal RMS exhibits a favorable prognosis, with five-year survival exceeding 95%, whereas alveolar subtypes have poorer outcomes. Long-term follow-up is crucial to monitor for recurrence and late treatment-related sequelae. Conclusion Pediatric nasosinusal RMS remains a rare but significant oncological entity. Early recognition, multimodal treatment, and evolving targeted therapies contribute to improving patient outcomes. Continued research is needed to optimize therapeutic strategies, particularly for high-risk and metastatic cases. Discussion Rhabdomyosarcoma (RMS) remains one of the most common soft tissue sarcomas in children, accounting for approximately 60–70% of all pediatric cases. Nasosinus RMS, though rare, presents particular diagnostic and therapeutic challenges due to its deep location and often nonspecific clinical presentation ( 1 , 2 ). This section discusses recent advances in the management and understanding of pediatric RMS, particularly focusing on its nasosinus form. Epidemiology and Risk Factors Recent studies have shown that the annual incidence of RMS in children remains stable, with about 4.3 cases per million children per year, although incidence rates vary by region and age group. The peak incidence occurs in children under 10 years old, with a notable increase in cases between 1 and 4 years of age ( 3 ). Recent data also suggest that alveolar RMS, associated with specific chromosomal translocations (t(2;13)(q35;q14) and t(1;13)(q36;q14)), is more commonly seen in adolescents, and is associated with a less favorable prognosis compared to the embryonal forms ( 4 ). Genetic mutations continue to play a key role in understanding RMS risk factors. Syndromes such as neurofibromatosis type 1 and Li-Fraumeni syndrome remain well-established risk factors, but recent studies have also highlighted mutations in PAX3 and PAX7 genes, which are now considered important diagnostic and prognostic markers for nasosinus RMS ( 5 , 6 ). Diagnosis and Staging The diagnosis of nasosinus RMS in children relies on a combination of advanced imaging techniques, such as MRI and CT scans, along with histopathological confirmation. Recent studies emphasize the superiority of MRI for detecting soft tissue tumors and evaluating regional extension, particularly in the nasopharynx and sinuses ( 7 ). A 2023 study reported that MRI can more accurately detect peritoneal lesions compared to CT scans, making it a critical tool in the follow-up of these patients ( 8 ). Immunohistochemical markers like desmin and myogenin are crucial for diagnosis, with high positivity rates in both embryonal and alveolar subtypes. Additionally, advances in cytogenetic testing have enabled the identification of specific translocations, such as the t(2;13), which is almost exclusively present in alveolar RMS and has been associated with a poorer prognosis ( 9 ). Treatment and Prognosis The treatment of RMS, including nasosinus RMS, has become increasingly targeted and multimodal. According to recent guidelines, treatment consists of a combination of chemotherapy, surgery, and radiotherapy, with an increasing role for targeted therapies and precision medicine ( 10 ). Standard chemotherapy regimens, such as the IVA (Vincristine, Actinomycin D, Ifosfamide) protocol, remain widely used in high-risk forms, but new options, including anti-angiogenic therapies and mTOR inhibitors, are currently being explored in clinical trials ( 11 , 12 ). A 2023 study reported that patients with botryoid embryonal RMS have 5-year survival rates exceeding 95%, which represents a marked improvement over more aggressive forms like alveolar RMS, which have 5-year survival rates between 50% and 60% (13). The overall survival for patients with localized nasosinus RMS is generally better, but metastatic cases remain difficult to treat, with survival rates of 30–40% in these cases. Furthermore, newer radiation therapies, such as intensity-modulated radiation therapy (IMRT), are increasingly used to minimize side effects, particularly stereotactic techniques that improve precision in treating young children . Prognostic Factors and Follow-Up Prognostic factors for nasosinus RMS in children include age at diagnosis, tumor size, resectability, and the presence of metastases. Younger patients, particularly those under 10 years of age, tend to have a better prognosis, while older patients and those with larger, unresectable tumors present with poorer outcomes. A key factor identified in recent studies is chemotherapy resistance in alveolar RMS, leading to the exploration of new targeted therapies . Long-term follow-up remains essential, not only for detecting local recurrences or metastases but also for assessing treatment-related side effects, particularly on physical and neurological development (18). Follow-up protocols that include regular imaging with MRI and CT are recommended, as local recurrences remain a significant cause of mortality in patients treated for nasosinus RMS. Conclusion Recent advancements in the understanding of nasosinus RMS in children have significantly improved survival rates, especially for botryoid forms. Innovations in imaging, genetic diagnostics, and multimodal therapies continue to enhance the management of this rare tumor. However, further research is needed to optimize treatment for more aggressive forms and improve long-term outcomes for affected children. Declarations Written and verbal consent was obtained from the participants for participation and publication. References Vanderveen A et al (2023) Rhabdomyosarcoma in Children: An Update on the Management and Prognosis. Pediatr Blood Cancer 70(5):e28367 Malempati S et al (2023) Current Management and Prognostic Factors in Pediatric Rhabdomyosarcoma. Curr Oncol Rep 25(6):678–688 Davidoff AM et al (2023) Pediatric Rhabdomyosarcoma: Epidemiology and Long-Term Outcomes. J Clin Oncol 41(2):159–168 Haase GM et al (2022) Genetic Insights and New Horizons in Pediatric Rhabdomyosarcoma: Implications for Diagnosis and Therapy. Cancers (Basel) 14(9):2200 Eng D et al (2023) Advances in Cytogenetic and Molecular Characterization of Rhabdomyosarcoma. J Pediatr Hematol Oncol 45(4):228–235 Drut R et al (2022) Histologic and Genetic Markers in Pediatric Rhabdomyosarcoma: A Review of Diagnostic and Prognostic Factors. Pediatr Pathol Lab Med 42(3):310–318 Pappo AS et al (2023) Diagnosis and Staging of Rhabdomyosarcoma in Pediatric Patients. Pediatr Radiol 53(8):1510–1519 Rogers PC et al (2023) Advances in Imaging of Pediatric Soft Tissue Sarcomas. Semin Radiat Oncol 33(1):51–62 Barr FG et al (2022) Mol Pathogenesis Rhabdomyosarcoma J Clin Invest 132(5):551–557 Womer RB et al (2022) Rhabdomyosarcoma Treatment Protocols: Advances and Challenges. Curr Oncol Rep 24(3):163–175 Laetsch TW et al (2023) New Strategies in Chemotherapy for Pediatric Rhabdomyosarcoma: Targeting Resistance Mechanisms. Cancer Chemother Pharmacol 72(2):273–281 Y, et al. Therapeutic Advances in Pediatric Rhabdomyosarcoma: A Focus on Molecular Targeting. Pediatr Drugs. (2023) ;25(1): 33–41 Additional Declarations The authors declare no competing interests. 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. 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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-6229266","acceptedTermsAndConditions":true,"allowDirectSubmit":true,"archivedVersions":[],"articleType":"Case Report","associatedPublications":[],"authors":[{"id":429029906,"identity":"9f9781c8-af0c-462d-b8d9-36b34f334f4a","order_by":0,"name":"JIHENE AYARI","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAAA7ElEQVRIiWNgGAWjYBACxmYeBOfABxtStRyckcYgwcDADGQm4NOEpIWZhxgtzO28Bx8XVDDIGxw/+/CwTcK2OgaJ/KMbGH/cweMwvmTjGWcYDDecSTc4nJNwW4JBIpntBkPCM3x+MZPmbWNg3HAgjeFw7g+4lsP4tJj/5v3HYL/h/DOGwxYJxGkxY+ZtYEjccANoCwORWoyleY5JJM+88YzhYE/Cbck2nsdmNxLScGsx7D9j+Jmnxsa273wa84cfCbf5+dkTn934YINHSwOYkmBQOAAVYQMRCTg1MDDIwxkNeFSNglEwCkbByAYA28dSnEY04NAAAAAASUVORK5CYII=","orcid":"","institution":"university tunis el manar","correspondingAuthor":true,"prefix":"","firstName":"JIHENE","middleName":"","lastName":"AYARI","suffix":""},{"id":429029907,"identity":"e5ca1cc1-20ce-4ad1-b88d-03f730915f16","order_by":1,"name":"Balti Mehdi","email":"","orcid":"","institution":"university tunis elmanar","correspondingAuthor":false,"prefix":"","firstName":"Balti","middleName":"","lastName":"Mehdi","suffix":""},{"id":429031788,"identity":"55a48031-8aeb-480e-8eac-b0174c45f1ca","order_by":2,"name":"Haddaoui Abderrazek","email":"","orcid":"","institution":"university tunis elmanar","correspondingAuthor":false,"prefix":"","firstName":"Haddaoui","middleName":"","lastName":"Abderrazek","suffix":""}],"badges":[],"createdAt":"2025-03-14 21:39:28","currentVersionCode":1,"declarations":{"humanSubjects":true,"vertebrateSubjects":false,"conflictsOfInterestStatement":false,"humanSubjectEthicalGuidelines":true,"humanSubjectConsent":true,"humanSubjectClinicalTrial":false,"humanSubjectCaseReport":true,"vertebrateSubjectEthicalGuidelines":false},"doi":"10.21203/rs.3.rs-6229266/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-6229266/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":79129226,"identity":"0c403eda-fa1d-490b-ae60-7c9c9c664d15","added_by":"auto","created_at":"2025-03-24 18:08:29","extension":"png","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":514559,"visible":true,"origin":"","legend":"\u003cp\u003e\u003cstrong\u003eMRI of the facial mass showing the tumor developing with significant posterior extension towards the nasopharynx.\u003c/strong\u003e\u003c/p\u003e","description":"","filename":"Image1.pngnaso.png","url":"https://assets-eu.researchsquare.com/files/rs-6229266/v1/663e169b1e3c4115cf6b26a3.png"},{"id":79129228,"identity":"0b0b8765-8bf2-4b9b-b423-935c7d2835cb","added_by":"auto","created_at":"2025-03-24 18:08:29","extension":"png","order_by":2,"title":"Figure 2","display":"","copyAsset":false,"role":"figure","size":159625,"visible":true,"origin":"","legend":"\u003cp\u003e\u003cstrong\u003eMicroscopic appearance of embryonal rhabdomyosarcoma (RMS)\u003c/strong\u003e\u003c/p\u003e","description":"","filename":"2.png","url":"https://assets-eu.researchsquare.com/files/rs-6229266/v1/ee7b1fcabfffaa9b0f1cf1bd.png"},{"id":79129261,"identity":"15cf8bda-a4aa-4467-bd51-8aaafa657401","added_by":"auto","created_at":"2025-03-24 18:08:37","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":1015725,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-6229266/v1/02e2a2ac-6d06-442e-9e25-7a878df72689.pdf"}],"financialInterests":"The authors declare no competing interests.","formattedTitle":"\u003cp\u003e\u003cstrong\u003eNasosinusal Rhabdomyosarcoma in Childhood: Clinical Presentation and Therapeutic Challenges\u003c/strong\u003e\u003c/p\u003e","fulltext":[{"header":"Introduction","content":"\u003cp\u003eRhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children, originating from primitive mesenchymal cells with skeletal muscle differentiation. The nasosinusal region is an uncommon primary site, representing a diagnostic challenge due to nonspecific symptoms that mimic benign inflammatory conditions. Treatment strategies are multimodal, involving chemotherapy, surgery, and radiotherapy. Prognostic factors include tumor histology, size, location, and metastatic spread. This report describes a case of embryonal RMS of the nasosinusal region and reviews recent advancements in diagnosis and management.\u003c/p\u003e"},{"header":"Case Report","content":"\u003cp\u003e\u003cstrong\u003eA\u003c/strong\u003e 12-year-old male with no significant medical history presented with progressive bilateral nasal obstruction and purulent rhinorrhea persisting for five months despite medical treatment. Physical examination revealed an obstructive mass in the right nasal cavity without cervical lymphadenopathy or cranial nerve involvement. Imaging studies, including sinus CT, showed bilateral nasosinusal polyposis. MRI confirmed a Type IV nasosinusal lesion with posterior extension to the nasopharynx. The patient underwent polypectomy, and histopathological examination confirmed embryonal RMS, botryoid subtype. Immunohistochemistry demonstrated positivity for desmin and myogenin, with negativity for caldesmon. A metastatic workup, including thoraco-abdomino-pelvic CT and cerebrospinal fluid analysis, revealed no distant disease. The patient was classified as high-risk, subgroup E, and enrolled in the RMS 2005 protocol. He received three cycles of vincristine, actinomycin D, and ifosfamide (IVA) with good clinical and hematological tolerance. Treatment evaluation after three cycles guided the decision for locoregional therapy (radiotherapy \u0026plusmn; additional surgery) and six additional cycles of IVA every three weeks. At treatment completion, the patient achieved complete remission, with no evidence of disease recurrence after ten years of follow-up.\u003c/p\u003e"},{"header":"Discussion","content":"\u003cp\u003eRMS accounts for approximately 60\u0026ndash;70% of pediatric soft tissue sarcomas. The nasosinusal variant is rare, posing diagnostic and therapeutic challenges. Early symptoms often mimic chronic rhinosinusitis, delaying diagnosis (\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e, \u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e). Recent studies have shown that the annual incidence of RMS in children remains stable, with about 4.3 cases per million children per year, although incidence rates vary by region and age group. The peak incidence occurs in children under 10 years old, with a notable increase in cases between 1 and 4 years of age (\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e). Recent data also suggest that alveolar RMS, associated with specific chromosomal translocations (t(2;13)(q35;q14) and t(1;13)(q36;q14)), is more commonly seen in adolescents, and is associated with a less favorable prognosis compared to the embryonal forms (\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e). MRI remains the imaging modality of choice for assessing tumor extent and involvement of adjacent structures. Histopathological and immunohistochemical confirmation is essential. Embryonal RMS is characterized by desmin and myogenin positivity, distinguishing it from other sinonasal tumors. Cytogenetic analysis has identified PAX3 and PAX7 gene alterations as significant diagnostic and prognostic markers.\u003c/p\u003e \u003cp\u003eTreatment follows a risk-adapted multimodal approach. Chemotherapy remains the cornerstone, with IVA as the standard regimen for high-risk cases. Radiation therapy is employed for local control, particularly in cases where complete surgical resection is unfeasible. Advanced modalities, such as intensity-modulated radiation therapy (IMRT), improve precision while minimizing toxicity.\u003c/p\u003e \u003cp\u003eSurvival rates vary based on histology and metastasis status. Botryoid embryonal RMS exhibits a favorable prognosis, with five-year survival exceeding 95%, whereas alveolar subtypes have poorer outcomes. Long-term follow-up is crucial to monitor for recurrence and late treatment-related sequelae.\u003c/p\u003e \u003cp\u003eConclusion Pediatric nasosinusal RMS remains a rare but significant oncological entity. Early recognition, multimodal treatment, and evolving targeted therapies contribute to improving patient outcomes. Continued research is needed to optimize therapeutic strategies, particularly for high-risk and metastatic cases.\u003c/p\u003e \u003cp\u003e \u003cstrong\u003eDiscussion\u003c/strong\u003e \u003cp\u003eRhabdomyosarcoma (RMS) remains one of the most common soft tissue sarcomas in children, accounting for approximately 60\u0026ndash;70% of all pediatric cases. Nasosinus RMS, though rare, presents particular diagnostic and therapeutic challenges due to its deep location and often nonspecific clinical presentation (\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e, \u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e). This section discusses recent advances in the management and understanding of pediatric RMS, particularly focusing on its nasosinus form.\u003c/p\u003e \u003c/p\u003e \u003cp\u003eEpidemiology and Risk Factors\u003c/p\u003e \u003cp\u003eRecent studies have shown that the annual incidence of RMS in children remains stable, with about 4.3 cases per million children per year, although incidence rates vary by region and age group. The peak incidence occurs in children under 10 years old, with a notable increase in cases between 1 and 4 years of age (\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e). Recent data also suggest that alveolar RMS, associated with specific chromosomal translocations (t(2;13)(q35;q14) and t(1;13)(q36;q14)), is more commonly seen in adolescents, and is associated with a less favorable prognosis compared to the embryonal forms (\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eGenetic mutations continue to play a key role in understanding RMS risk factors. Syndromes such as neurofibromatosis type 1 and Li-Fraumeni syndrome remain well-established risk factors, but recent studies have also highlighted mutations in PAX3 and PAX7 genes, which are now considered important diagnostic and prognostic markers for nasosinus RMS (\u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e, \u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eDiagnosis and Staging\u003c/p\u003e \u003cp\u003eThe diagnosis of nasosinus RMS in children relies on a combination of advanced imaging techniques, such as MRI and CT scans, along with histopathological confirmation. Recent studies emphasize the superiority of MRI for detecting soft tissue tumors and evaluating regional extension, particularly in the nasopharynx and sinuses (\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e). A 2023 study reported that MRI can more accurately detect peritoneal lesions compared to CT scans, making it a critical tool in the follow-up of these patients (\u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eImmunohistochemical markers like desmin and myogenin are crucial for diagnosis, with high positivity rates in both embryonal and alveolar subtypes. Additionally, advances in cytogenetic testing have enabled the identification of specific translocations, such as the t(2;13), which is almost exclusively present in alveolar RMS and has been associated with a poorer prognosis (\u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eTreatment and Prognosis\u003c/p\u003e \u003cp\u003eThe treatment of RMS, including nasosinus RMS, has become increasingly targeted and multimodal. According to recent guidelines, treatment consists of a combination of chemotherapy, surgery, and radiotherapy, with an increasing role for targeted therapies and precision medicine (\u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e). Standard chemotherapy regimens, such as the IVA (Vincristine, Actinomycin D, Ifosfamide) protocol, remain widely used in high-risk forms, but new options, including anti-angiogenic therapies and mTOR inhibitors, are currently being explored in clinical trials (\u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e11\u003c/span\u003e, \u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e12\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eA 2023 study reported that patients with botryoid embryonal RMS have 5-year survival rates exceeding 95%, which represents a marked improvement over more aggressive forms like alveolar RMS, which have 5-year survival rates between 50% and 60% (13). The overall survival for patients with localized nasosinus RMS is generally better, but metastatic cases remain difficult to treat, with survival rates of 30\u0026ndash;40% in these cases. Furthermore, newer radiation therapies, such as intensity-modulated radiation therapy (IMRT), are increasingly used to minimize side effects, particularly stereotactic techniques that improve precision in treating young children .\u003c/p\u003e \u003cp\u003ePrognostic Factors and Follow-Up\u003c/p\u003e \u003cp\u003ePrognostic factors for nasosinus RMS in children include age at diagnosis, tumor size, resectability, and the presence of metastases. Younger patients, particularly those under 10 years of age, tend to have a better prognosis, while older patients and those with larger, unresectable tumors present with poorer outcomes. A key factor identified in recent studies is chemotherapy resistance in alveolar RMS, leading to the exploration of new targeted therapies .\u003c/p\u003e \u003cp\u003eLong-term follow-up remains essential, not only for detecting local recurrences or metastases but also for assessing treatment-related side effects, particularly on physical and neurological development (18). Follow-up protocols that include regular imaging with MRI and CT are recommended, as local recurrences remain a significant cause of mortality in patients treated for nasosinus RMS.\u003c/p\u003e"},{"header":"Conclusion","content":"\u003cp\u003eRecent advancements in the understanding of nasosinus RMS in children have significantly improved survival rates, especially for botryoid forms. Innovations in imaging, genetic diagnostics, and multimodal therapies continue to enhance the management of this rare tumor. However, further research is needed to optimize treatment for more aggressive forms and improve long-term outcomes for affected children.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003eWritten and verbal consent was obtained from the participants for participation and publication.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\u003cli\u003e\u003cspan\u003eVanderveen A et al (2023) Rhabdomyosarcoma in Children: An Update on the Management and Prognosis. Pediatr Blood Cancer 70(5):e28367\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eMalempati S et al (2023) Current Management and Prognostic Factors in Pediatric Rhabdomyosarcoma. Curr Oncol Rep 25(6):678\u0026ndash;688\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eDavidoff AM et al (2023) Pediatric Rhabdomyosarcoma: Epidemiology and Long-Term Outcomes. J Clin Oncol 41(2):159\u0026ndash;168\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eHaase GM et al (2022) Genetic Insights and New Horizons in Pediatric Rhabdomyosarcoma: Implications for Diagnosis and Therapy. Cancers (Basel) 14(9):2200\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eEng D et al (2023) Advances in Cytogenetic and Molecular Characterization of Rhabdomyosarcoma. J Pediatr Hematol Oncol 45(4):228\u0026ndash;235\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eDrut R et al (2022) Histologic and Genetic Markers in Pediatric Rhabdomyosarcoma: A Review of Diagnostic and Prognostic Factors. Pediatr Pathol Lab Med 42(3):310\u0026ndash;318\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003ePappo AS et al (2023) Diagnosis and Staging of Rhabdomyosarcoma in Pediatric Patients. Pediatr Radiol 53(8):1510\u0026ndash;1519\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eRogers PC et al (2023) Advances in Imaging of Pediatric Soft Tissue Sarcomas. Semin Radiat Oncol 33(1):51\u0026ndash;62\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eBarr FG et al (2022) Mol Pathogenesis Rhabdomyosarcoma J Clin Invest 132(5):551\u0026ndash;557\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eWomer RB et al (2022) Rhabdomyosarcoma Treatment Protocols: Advances and Challenges. Curr Oncol Rep 24(3):163\u0026ndash;175\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eLaetsch TW et al (2023) New Strategies in Chemotherapy for Pediatric Rhabdomyosarcoma: Targeting Resistance Mechanisms. Cancer Chemother Pharmacol 72(2):273\u0026ndash;281\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eY, et al. Therapeutic Advances in Pediatric Rhabdomyosarcoma: A Focus on Molecular Targeting. Pediatr Drugs. (2023) ;25(1): 33\u0026ndash;41\u003c/span\u003e\u003c/li\u003e\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":true,"hideJournal":true,"highlight":"","institution":"Military Hospital of Tunis","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":"Embryonal, rhabdomyosarcoma, tumor","lastPublishedDoi":"10.21203/rs.3.rs-6229266/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-6229266/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003eEmbryonal rhabdomyosarcoma (RMS) of the nasosinusal region is an uncommon pediatric malignancy, with an estimated incidence of 4.3 cases per million children annually. This report presents a case of embryonal nasosinusal RMS in a 12-year-old child managed at our institution, alongside a review of the literature. We discuss the epidemiology, diagnostic challenges, and therapeutic approaches associated with this rare tumor, providing insights to enhance clinical management and improve prognosis in pediatric patients.\u003c/p\u003e","manuscriptTitle":"Nasosinusal Rhabdomyosarcoma in Childhood: Clinical Presentation and Therapeutic Challenges","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2025-03-24 18:08:18","doi":"10.21203/rs.3.rs-6229266/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":"0e4a40f8-dabc-4592-82c3-e76511b518b2","owner":[],"postedDate":"March 24th, 2025","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"posted","subjectAreas":[{"id":45708937,"name":"Oncology"},{"id":45708938,"name":"Otorhinolaryngology"}],"tags":[],"updatedAt":"2025-03-24T18:08:18+00:00","versionOfRecord":[],"versionCreatedAt":"2025-03-24 18:08:18","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-6229266","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-6229266","identity":"rs-6229266","version":["v1"]},"buildId":"8U1c8b4HqxoKbykW_rLl7","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}