A Case Report of Clear Cell Sarcoma-like Tumor arising in the rectum

A Case Report of Clear Cell Sarcoma-like Tumor arising in the rectum | 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 Research Article A Case Report of Clear Cell Sarcoma-like Tumor arising in the rectum Weiming Wang, Zhangli Wu, Juan Lang, Chuanling Hou This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-6821845/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 Clear cell sarcoma-like tumor of the gastrointestinal tract (CCSLGT) is an extremely rare mesenchymal tumor that occurs in the digestive tract, with the most common sites being the small intestine, followed by the stomach and colon. This case involves a clear cell sarcoma-like tumor occurring in the rectum. The patient is an 85-year-old female admitted to the hospital due to "recurrent protrusion of a mass at the anal orifice after defecation for more than two months." Abdominal CT suggested a nodular enhancement at the lower end of the rectum. Grossly, it appeared as a polypoid nodule, with a maximum diameter of 2 cm. Microscopically, the tumor cells were arranged in solid sheets and irregular nest-like clusters, with some arranged in a herringbone pattern; the tumor cells were epithelioid, oval or short spindle-shaped, and nucleoli were visible. Immunophenotypically, SOX10 and S100 proteins were diffusely and strongly positive, melanoma-related markers were not expressed, and gastrointestinal stromal tumor markers and myogenic markers were not expressed. FISH testing revealed EWSR1 gene rearrangement and no BRAF mutation, thus diagnosing the tumor as a clear cell sarcoma-like tumor of the gastrointestinal tract. clear cell sarcoma soft tissue SOX-11 S-100 Figures Figure 1 Figure 2 Figure 3 Introduction Clear cell sarcoma-like tumor of the gastrointestinal tract (CCSLGT) is an extremely rare mesenchymal tumor that occurs in the digestive tract【1】. It most commonly occurs in the small intestine, followed by the colon and stomach, and is more frequently seen in children and young adults. These tumors can be distinguished based on their microscopic characteristics, immunohistochemical features, and the presence of EWSR1 rearrangement【2】. Case Report An 85-year-old female patient was admitted to the hospital due to "recurrent protrusion of a mass at the anal orifice after defecation for over two months." Abdominal CT scan indicated a nodular enhancement at the lower end of the rectum (Fig. 1a&b). Colonoscopy suggested a polyp, and gross pathological examination revealed a 2cm diameter grayish-red polypoid mass. Microscopic examination suggested that the tumor was arranged in solid sheets and irregular nest-like clusters, with some arranged in a herringbone pattern (Fig. 2,a). Under high magnification, the tumor cells were epithelioid (Fig. 2,b), pleomorphic, of medium size, with some exhibiting osteoclast-like giant cells. The cytoplasm was eosinophilic, without pigment deposition, and nucleoli were prominent. Pathological mitotic figures were commonly seen (Fig. 2,b). Immunohistochemistry showed positive expression for S100 (Fig. 2,c) and SOX-10 (Fig. 2,d), while melanocytic markers such as Melan-A and HMB45 were negative (Fig. 2,e). Gastrointestinal stromal tumor markers DOG1, CD117, and CD34 were negative(Fig. 2,f), and myogenic-related markers SMA and MyoD1 were also negative. Molecular pathology results indicated that fluorescence in situ hybridization (FISH) showed EWSR1 split signals in 70% of counted nuclei, suggesting EWSR1 rearrangement(Fig. 3,a),no mutation in the BRAF gene was detected(Fig. 3,b). The pathological diagnosis was clear cell sarcoma-like tumor of the gastrointestinal tract. The patient was followed up, and she passed away seven months later. Discussion Clear cell sarcoma-like tumor of the gastrointestinal tract (CCSLGT) is an extremely rare mesenchymal tumor occurring in the digestive tract. This type of tumor was first reported by Zambrano et al. in 2003【3】, who believed that these tumors have characteristics of clear cell sarcoma, as well as chromosomal translocation features such as 46XX t(12;22)(q13;q12). In 2012, Stockman et al. reported 16 cases of gastrointestinal clear cell sarcoma-like tumors【4】, and they considered these tumors to be characterized by neuroectodermal differentiation, expressing neural markers such as SOX-11 and S-100, but lacking the characteristic expression of malignant melanocytic tumors. They named it malignant gastrointestinal neuroectodermal tumor (MGNET). Currently, most scholars believe【5】 that clear cell sarcoma of the gastrointestinal tract (CCS-GIT) (if not occurring in the gastrointestinal tract, it is called clear cell sarcoma, CCS) is a tumor that expresses at least one malignant melanocytic marker, which is different from CCSLGT. CCSLGT does not express malignant melanocytic markers, but both have EWSR1 gene rearrangement. At present, most scholars consider CCSLGT and MGNET to be the same tumor. According to the fifth edition of the WHO【6】, CCS and MGNET are classified as the same disease, named clear cell sarcoma/malignant gastrointestinal neuroectodermal tumor (CCS/MGNET), but there are actually some differences between the two. Although both express neural markers such as SOX-11 and S-100, and both have EWSR1 gene rearrangement【7】, CCS expresses melanocytic markers, while MGNET (CCSLGT) does not have this feature. From the perspective of molecular genetics, CCS-GIT has an EWSR1-ATF1 fusion, and 90% of MGNETs have EWSR1 gene rearrangement. The t(12;22)(q13;q12) translocation leads to overexpression of the EWSR1-ATF1 fusion gene, and the t(2;22)(q32.3;q12) translocation leads to overexpression of the EWSR1-CREB1 fusion gene【2】. Therefore, from the perspectives of immunohistochemical staining and molecular genetics, CCS-GIT (CCS) and MGNET (CCSLGT) can be distinguished. Of course, in addition to the above-mentioned differential diagnosis, CCSLGT also needs to be distinguished from other tumors. ( 1 ) Malignant melanoma: Malignant melanoma can take on various forms, such as sheet-like, nest-like, sarcomatoid, etc., and the cell morphology is also highly variable, including epithelioid and spindle cell-like. Some malignant melanomas are accompanied by melanin granule deposition, while others do not have this characteristic. Malignant melanomas without melanin deposition also express SOX-11 and S-100, as well as Melan-A and HMB45, but they do not have EWSR1 gene rearrangement and instead have BRAF gene mutations. ( 2 ) Gastrointestinal stromal tumor (GIST): The biological behavior of GIST varies according to its differentiation. The arrangement of GIST also shows a variety of changes, usually in sheet-like or nest-like patterns, and can also be in a palisading arrangement. The cells are mostly spindle-shaped but can also be epithelioid. They express CD117, DOG1, and CD34, have c-kit/PDGFRα mutations, and do not have EWSR1 gene rearrangement. ( 3 ) Epithelioid malignant peripheral nerve sheath tumor (MPNST): The cells show high pleomorphism and can partially express SOX-11 and S-100. They often have loss of SMARCB1/INI1 expression【8】, but do not have EWSR1 gene rearrangement. At present, the treatment for MGNET (CCSLGT) still mainly focuses on complete surgical resection, followed by adjuvant radiotherapy and chemotherapy. In recent years, anti-angiogenic targeted therapy drugs (such as pazopanib and sunitinib) have shown some efficacy, and ALK gene inhibitors like crizotinib have also been reported for use in MGNET【9】. Conclusion CCSLGT is a rare tumor occurring in the digestive system, which can be distinguished from various similar tumors due to the overexpression of the EWSR1-ATF1 and EWSR1-CREB1 fusion genes caused by the translocations t(12;22)(q13;q12) and t(2;22)(q32.3;q12). Currently, scholars have not reached a consensus on the naming of this tumor, with terms such as CCSLGT, MGNET, and CCS/MGNET being used. However, what scholars are essentially referring to is a single category of tumor. A more precise and unified classification of this type of tumor could bring greater convenience for patient treatment and prognosis. Declarations Ethics approval and consent to participate This study was conducted retrospectively from data obtained for clinical purposes. Ethical approval has been exempted by the Ethics Committee of Shaoxing People’s Hospital. This study was conducted in accordance with local regulations and the ethical standards stipulated in the 1964 ’ Helsinki Declaration ’. Consent for publication Informed consent to participate in and publish the study was obtained from a participant. Competing interests The authors declare no competing interests. Funding There was no Funding. Author Contribution Weiming Wang wrote the manuscript, Zhangli Wu,Chuanling Hou participated in the pathological examination, Juan Lang conducted the experiment on the molecular part. All authors have read and agreed to the final manuscript. Acknowledgements We thanks to all the authors for their hard work and dedication. Data Availability The datasets generated during and/or analyzed during the current study are available from the corresponding author on reasonable request. References Thway K, Judson I, Fisher C. Clear cell sarcoma-like tumor of the gastrointestinal tract, presenting as a second malignancy after childhood hepatoblastoma[J]. Case Rep Med, 2014, 2014984369. Thway K, Fisher C. Tumors with EWSR1-CREB1 and EWSR1-ATF1 fusions: the current status[J]. Am J Surg Pathol. 2012;36(7):e1–11. Zambrano E, Reyes-Mugica M, Franchi A, et al. An osteoclast-rich tumor of the gastrointestinal tract with features resembling clear cell sarcoma of soft parts: reports of 6 cases of a GIST simulator[J]. Int J Surg Pathol. 2003;11(2):75–81. Stockman D-L, Miettinen M, Suster S, et al. Malignant gastrointestinal neuroectodermal tumor: clinicopathologic, immunohistochemical, ultrastructural, and molecular analysis of 16 cases with a reappraisal of clear cell sarcoma-like tumors of the gastrointestinal tract[J]. Am J Surg Pathol. 2012;36(6):857–68. Ikuta K, Nishida Y, Imagama S, et al. The current management of clear cell sarcoma[J]. Jpn J Clin Oncol. 2023;53(10):899–904. Nagtegaal I-D, Odze R-D, Klimstra D, et al. The 2019 WHO classification of tumours of the digestive system[J]. Histopathology. 2020;76(2):182–8. Panza E, Ozenberger B-B, Straessler K-M et al. The clear cell sarcoma functional genomic landscape[J]. J Clin Invest, 2021, 131(15). Meister M-T, Scheer M, Hallmen E, et al. Malignant peripheral nerve sheath tumors in children, adolescents, and young adults: Treatment results of five Cooperative Weichteilsarkom Studiengruppe (CWS) trials and one registry[J]. J Surg Oncol. 2020;122(7):1337–47. Subbiah V, Holmes O, Gowen K, et al. Activity of c-Met/ALK Inhibitor Crizotinib and Multi-Kinase VEGF Inhibitor Pazopanib in Metastatic Gastrointestinal Neuroectodermal Tumor Harboring EWSR1-CREB1 Fusion[J]. Oncology. 2016;91(6):348–35. 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. 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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-6821845","acceptedTermsAndConditions":true,"allowDirectSubmit":true,"archivedVersions":[],"articleType":"Research Article","associatedPublications":[],"authors":[{"id":482969782,"identity":"da6fb8cd-b05e-4e2a-9416-e13dc58eb5b8","order_by":0,"name":"Weiming Wang","email":"","orcid":"","institution":"Shaoxing People's Hospital","correspondingAuthor":false,"prefix":"","firstName":"Weiming","middleName":"","lastName":"Wang","suffix":""},{"id":482969783,"identity":"783fc53c-a06e-4570-84c1-5e9a3b3186ba","order_by":1,"name":"Zhangli Wu","email":"","orcid":"","institution":"The Second Affiliated Hospital of Wannan Medical College","correspondingAuthor":false,"prefix":"","firstName":"Zhangli","middleName":"","lastName":"Wu","suffix":""},{"id":482969784,"identity":"a90d34db-2203-4146-bb55-825dc0dc681b","order_by":2,"name":"Juan Lang","email":"","orcid":"","institution":"Shaoxing People's Hospital","correspondingAuthor":false,"prefix":"","firstName":"Juan","middleName":"","lastName":"Lang","suffix":""},{"id":482969785,"identity":"942c007c-d7ae-4ecb-af0a-6f4ddc3a9fc3","order_by":3,"name":"Chuanling Hou","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAAAtElEQVRIiWNgGAWjYFACHsbDDAwWcmzs7QeI1sIA1CJhzMdzJoE0LYnzJBwMiNMgPyP3wOGCGon0NgmGBIYfFdsIazG4kZdweMYxidw26cYDjD1nbhOhRSLH4DBvA1CLzIEEZsY2IrTIz4BoSWeTSDAgTgvDDYiWBOK1GJx5l3CY55iEYRswkA8S5Rf59tyDj3lqbOTl29sPPvhRQYzDBBIQ7ANEqAcCfiLVjYJRMApGwQgGAL0/OwGdEH6WAAAAAElFTkSuQmCC","orcid":"","institution":"Shaoxing People's Hospital","correspondingAuthor":true,"prefix":"","firstName":"Chuanling","middleName":"","lastName":"Hou","suffix":""}],"badges":[],"createdAt":"2025-06-04 15:08:31","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-6821845/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-6821845/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":86663412,"identity":"7d81346c-04fd-4e66-a548-9cda90081279","added_by":"auto","created_at":"2025-07-14 10:50:01","extension":"png","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":275980,"visible":true,"origin":"","legend":"\u003cp\u003eThe images demonstrate the approximate location of the tumor in a PET-CT scan, with the tumor situated in the rectum, presenting as a polypoid, oval-shaped mass with high-density shadowing and relatively uniform interior.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003e(a) \u003c/strong\u003eshows the tumor's position in the sagittal plane (indicated by a red arrow), located in the intestinal mucosa without invasion of surrounding bone tissue.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003e(b) \u003c/strong\u003eshows the tumor's position in the coronal plane (indicated by a red arrow), with the tumor protruding into the intestinal lumen, exhibiting a polypoid appearance.\u003c/p\u003e","description":"","filename":"1.png","url":"https://assets-eu.researchsquare.com/files/rs-6821845/v1/d8ac88396413e372aa5e8f6f.png"},{"id":86665671,"identity":"e46e6b89-abf8-4d3e-9c4c-8a77f21e767a","added_by":"auto","created_at":"2025-07-14 11:06:01","extension":"png","order_by":2,"title":"Figure 2","display":"","copyAsset":false,"role":"figure","size":1635257,"visible":true,"origin":"","legend":"\u003cp\u003e\u003cstrong\u003e(a) \u003c/strong\u003eshows the tumor cells arranged in sheets and nest-like patterns, with some exhibiting a herringbone-like arrangement.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003e(b) \u003c/strong\u003edemonstrates the tumor cells with an epithelioid appearance and prominent pathological mitotic figures.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003e(c)\u003c/strong\u003e illustrates S-100 immunohistochemical staining, which is positive.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003e(d)\u003c/strong\u003e illustrates SOX-10 immunohistochemical staining, which is positive.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003e(e) \u003c/strong\u003eillustrates HMB45 immunohistochemical staining, which is negative.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003e(f)\u003c/strong\u003e illustrates CD117 immunohistochemical staining, which is negative.\u003c/p\u003e","description":"","filename":"2.png","url":"https://assets-eu.researchsquare.com/files/rs-6821845/v1/3266c3b847527db27b3ae627.png"},{"id":86663413,"identity":"07ee85fa-97e0-42d3-8618-2ce44c7696ae","added_by":"auto","created_at":"2025-07-14 10:50:01","extension":"png","order_by":3,"title":"Figure 3","display":"","copyAsset":false,"role":"figure","size":349368,"visible":true,"origin":"","legend":"\u003cp\u003e\u003cstrong\u003e(a) \u003c/strong\u003eshow the detection of EWSR1 molecules, indicating that 70% of the counted nuclei show EWSR1 split signals, suggesting EWSR1 rearrangement.\u003cbr\u003e\n\u003cstrong\u003e(b) \u003c/strong\u003eshow the detection results of Braf gene mutations. The results indicate the absence of Braf mutations.\u003c/p\u003e","description":"","filename":"3.png","url":"https://assets-eu.researchsquare.com/files/rs-6821845/v1/9606cef6e3db22ae9c012fab.png"},{"id":102027551,"identity":"72c53f5e-96e4-46cf-b421-f6e00ed99ba4","added_by":"auto","created_at":"2026-02-06 10:10:23","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":3002280,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-6821845/v1/a07a5326-4e3d-4ae8-b962-02f673665660.pdf"}],"financialInterests":"No competing interests reported.","formattedTitle":"A Case Report of Clear Cell Sarcoma-like Tumor arising in the rectum","fulltext":[{"header":"Introduction","content":"\u003cp\u003eClear cell sarcoma-like tumor of the gastrointestinal tract (CCSLGT) is an extremely rare mesenchymal tumor that occurs in the digestive tract【1】. It most commonly occurs in the small intestine, followed by the colon and stomach, and is more frequently seen in children and young adults. These tumors can be distinguished based on their microscopic characteristics, immunohistochemical features, and the presence of EWSR1 rearrangement【2】.\u003c/p\u003e"},{"header":"Case Report","content":"\u003cp\u003eAn 85-year-old female patient was admitted to the hospital due to \"recurrent protrusion of a mass at the anal orifice after defecation for over two months.\" Abdominal CT scan indicated a nodular enhancement at the lower end of the rectum (Fig.\u0026nbsp;1a\u0026amp;b). Colonoscopy suggested a polyp, and gross pathological examination revealed a 2cm diameter grayish-red polypoid mass. Microscopic examination suggested that the tumor was arranged in solid sheets and irregular nest-like clusters, with some arranged in a herringbone pattern (Fig.\u0026nbsp;2,a). Under high magnification, the tumor cells were epithelioid (Fig.\u0026nbsp;2,b), pleomorphic, of medium size, with some exhibiting osteoclast-like giant cells. The cytoplasm was eosinophilic, without pigment deposition, and nucleoli were prominent. Pathological mitotic figures were commonly seen (Fig.\u0026nbsp;2,b). Immunohistochemistry showed positive expression for S100 (Fig.\u0026nbsp;2,c) and SOX-10 (Fig.\u0026nbsp;2,d), while melanocytic markers such as Melan-A and HMB45 were negative (Fig.\u0026nbsp;2,e). Gastrointestinal stromal tumor markers DOG1, CD117, and CD34 were negative(Fig.\u0026nbsp;2,f), and myogenic-related markers SMA and MyoD1 were also negative. Molecular pathology results indicated that fluorescence in situ hybridization (FISH) showed EWSR1 split signals in 70% of counted nuclei, suggesting EWSR1 rearrangement(Fig.\u0026nbsp;3,a),no mutation in the BRAF gene was detected(Fig.\u0026nbsp;3,b). The pathological diagnosis was clear cell sarcoma-like tumor of the gastrointestinal tract. The patient was followed up, and she passed away seven months later.\u003c/p\u003e"},{"header":"Discussion","content":"\u003cp\u003eClear cell sarcoma-like tumor of the gastrointestinal tract (CCSLGT) is an extremely rare mesenchymal tumor occurring in the digestive tract. This type of tumor was first reported by Zambrano et al. in 2003【3】, who believed that these tumors have characteristics of clear cell sarcoma, as well as chromosomal translocation features such as 46XX t(12;22)(q13;q12). In 2012, Stockman et al. reported 16 cases of gastrointestinal clear cell sarcoma-like tumors【4】, and they considered these tumors to be characterized by neuroectodermal differentiation, expressing neural markers such as SOX-11 and S-100, but lacking the characteristic expression of malignant melanocytic tumors. They named it malignant gastrointestinal neuroectodermal tumor (MGNET). Currently, most scholars believe【5】 that clear cell sarcoma of the gastrointestinal tract (CCS-GIT) (if not occurring in the gastrointestinal tract, it is called clear cell sarcoma, CCS) is a tumor that expresses at least one malignant melanocytic marker, which is different from CCSLGT. CCSLGT does not express malignant melanocytic markers, but both have EWSR1 gene rearrangement. At present, most scholars consider CCSLGT and MGNET to be the same tumor. According to the fifth edition of the WHO【6】, CCS and MGNET are classified as the same disease, named clear cell sarcoma/malignant gastrointestinal neuroectodermal tumor (CCS/MGNET), but there are actually some differences between the two. Although both express neural markers such as SOX-11 and S-100, and both have EWSR1 gene rearrangement【7】, CCS expresses melanocytic markers, while MGNET (CCSLGT) does not have this feature. From the perspective of molecular genetics, CCS-GIT has an EWSR1-ATF1 fusion, and 90% of MGNETs have EWSR1 gene rearrangement. The t(12;22)(q13;q12) translocation leads to overexpression of the EWSR1-ATF1 fusion gene, and the t(2;22)(q32.3;q12) translocation leads to overexpression of the EWSR1-CREB1 fusion gene【2】. Therefore, from the perspectives of immunohistochemical staining and molecular genetics, CCS-GIT (CCS) and MGNET (CCSLGT) can be distinguished.\u003c/p\u003e\u003cp\u003eOf course, in addition to the above-mentioned differential diagnosis, CCSLGT also needs to be distinguished from other tumors.\u003c/p\u003e\u003cp\u003e(\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e) Malignant melanoma: Malignant melanoma can take on various forms, such as sheet-like, nest-like, sarcomatoid, etc., and the cell morphology is also highly variable, including epithelioid and spindle cell-like. Some malignant melanomas are accompanied by melanin granule deposition, while others do not have this characteristic. Malignant melanomas without melanin deposition also express SOX-11 and S-100, as well as Melan-A and HMB45, but they do not have EWSR1 gene rearrangement and instead have BRAF gene mutations.\u003c/p\u003e\u003cp\u003e(\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e) Gastrointestinal stromal tumor (GIST): The biological behavior of GIST varies according to its differentiation. The arrangement of GIST also shows a variety of changes, usually in sheet-like or nest-like patterns, and can also be in a palisading arrangement. The cells are mostly spindle-shaped but can also be epithelioid. They express CD117, DOG1, and CD34, have c-kit/PDGFRα mutations, and do not have EWSR1 gene rearrangement.\u003c/p\u003e\u003cp\u003e(\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e) Epithelioid malignant peripheral nerve sheath tumor (MPNST): The cells show high pleomorphism and can partially express SOX-11 and S-100. They often have loss of SMARCB1/INI1 expression【8】, but do not have EWSR1 gene rearrangement.\u003c/p\u003e\u003cp\u003eAt present, the treatment for MGNET (CCSLGT) still mainly focuses on complete surgical resection, followed by adjuvant radiotherapy and chemotherapy. In recent years, anti-angiogenic targeted therapy drugs (such as pazopanib and sunitinib) have shown some efficacy, and ALK gene inhibitors like crizotinib have also been reported for use in MGNET【9】.\u003c/p\u003e"},{"header":"Conclusion","content":"\u003cp\u003eCCSLGT is a rare tumor occurring in the digestive system, which can be distinguished from various similar tumors due to the overexpression of the EWSR1-ATF1 and EWSR1-CREB1 fusion genes caused by the translocations t(12;22)(q13;q12) and t(2;22)(q32.3;q12). Currently, scholars have not reached a consensus on the naming of this tumor, with terms such as CCSLGT, MGNET, and CCS/MGNET being used. However, what scholars are essentially referring to is a single category of tumor. A more precise and unified classification of this type of tumor could bring greater convenience for patient treatment and prognosis.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eEthics approval and consent to participate\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThis study was conducted retrospectively from data obtained for clinical purposes. Ethical approval has been exempted by the Ethics Committee of Shaoxing People\u0026rsquo;s Hospital. This study was conducted in accordance with local regulations and the ethical standards stipulated in the 1964 \u0026rsquo; Helsinki Declaration \u0026rsquo;.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConsent for publication\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eInformed consent to participate in and publish the study was obtained from a participant.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCompeting interests\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe authors declare no competing interests.\u003c/p\u003e\n\u003ch2\u003eFunding\u003c/h2\u003e\n\u003cp\u003eThere was no Funding.\u003c/p\u003e\n\u003ch2\u003eAuthor Contribution\u003c/h2\u003e\n\u003cp\u003eWeiming Wang wrote the manuscript, Zhangli Wu,Chuanling Hou participated in the pathological examination, Juan Lang conducted the experiment on the molecular part. All authors have read and agreed to the final manuscript.\u003c/p\u003e\n\u003ch2\u003eAcknowledgements\u003c/h2\u003e\n\u003cp\u003eWe thanks to all the authors for their hard work and dedication.\u003c/p\u003e\n\u003ch2\u003eData Availability\u003c/h2\u003e\n\u003cp\u003eThe datasets generated during and/or analyzed during the current study are available from the corresponding author on reasonable request.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\u003cli\u003e\u003cspan\u003eThway K, Judson I, Fisher C. Clear cell sarcoma-like tumor of the gastrointestinal tract, presenting as a second malignancy after childhood hepatoblastoma[J]. Case Rep Med, 2014, 2014984369.\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eThway K, Fisher C. Tumors with EWSR1-CREB1 and EWSR1-ATF1 fusions: the current status[J]. Am J Surg Pathol. 2012;36(7):e1\u0026ndash;11.\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eZambrano E, Reyes-Mugica M, Franchi A, et al. An osteoclast-rich tumor of the gastrointestinal tract with features resembling clear cell sarcoma of soft parts: reports of 6 cases of a GIST simulator[J]. Int J Surg Pathol. 2003;11(2):75\u0026ndash;81.\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eStockman D-L, Miettinen M, Suster S, et al. Malignant gastrointestinal neuroectodermal tumor: clinicopathologic, immunohistochemical, ultrastructural, and molecular analysis of 16 cases with a reappraisal of clear cell sarcoma-like tumors of the gastrointestinal tract[J]. Am J Surg Pathol. 2012;36(6):857\u0026ndash;68.\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eIkuta K, Nishida Y, Imagama S, et al. The current management of clear cell sarcoma[J]. Jpn J Clin Oncol. 2023;53(10):899\u0026ndash;904.\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eNagtegaal I-D, Odze R-D, Klimstra D, et al. The 2019 WHO classification of tumours of the digestive system[J]. Histopathology. 2020;76(2):182\u0026ndash;8.\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003ePanza E, Ozenberger B-B, Straessler K-M et al. The clear cell sarcoma functional genomic landscape[J]. J Clin Invest, 2021, 131(15).\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eMeister M-T, Scheer M, Hallmen E, et al. Malignant peripheral nerve sheath tumors in children, adolescents, and young adults: Treatment results of five Cooperative Weichteilsarkom Studiengruppe (CWS) trials and one registry[J]. J Surg Oncol. 2020;122(7):1337\u0026ndash;47.\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eSubbiah V, Holmes O, Gowen K, et al. Activity of c-Met/ALK Inhibitor Crizotinib and Multi-Kinase VEGF Inhibitor Pazopanib in Metastatic Gastrointestinal Neuroectodermal Tumor Harboring EWSR1-CREB1 Fusion[J]. Oncology. 2016;91(6):348\u0026ndash;35.\u003c/span\u003e\u003c/li\u003e\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":"clear cell sarcoma, soft tissue, SOX-11, S-100","lastPublishedDoi":"10.21203/rs.3.rs-6821845/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-6821845/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003eClear cell sarcoma-like tumor of the gastrointestinal tract (CCSLGT) is an extremely rare mesenchymal tumor that occurs in the digestive tract, with the most common sites being the small intestine, followed by the stomach and colon. This case involves a clear cell sarcoma-like tumor occurring in the rectum. The patient is an 85-year-old female admitted to the hospital due to \"recurrent protrusion of a mass at the anal orifice after defecation for more than two months.\" Abdominal CT suggested a nodular enhancement at the lower end of the rectum. Grossly, it appeared as a polypoid nodule, with a maximum diameter of 2 cm. Microscopically, the tumor cells were arranged in solid sheets and irregular nest-like clusters, with some arranged in a herringbone pattern; the tumor cells were epithelioid, oval or short spindle-shaped, and nucleoli were visible. Immunophenotypically, SOX10 and S100 proteins were diffusely and strongly positive, melanoma-related markers were not expressed, and gastrointestinal stromal tumor markers and myogenic markers were not expressed. FISH testing revealed EWSR1 gene rearrangement and no BRAF mutation, thus diagnosing the tumor as a clear cell sarcoma-like tumor of the gastrointestinal tract.\u003c/p\u003e","manuscriptTitle":"A Case Report of Clear Cell Sarcoma-like Tumor arising in the rectum","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2025-07-14 10:49:56","doi":"10.21203/rs.3.rs-6821845/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":"806082ce-459c-4f4c-980e-76e903b2a23e","owner":[],"postedDate":"July 14th, 2025","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"posted","subjectAreas":[],"tags":[],"updatedAt":"2026-02-06T10:08:11+00:00","versionOfRecord":[],"versionCreatedAt":"2025-07-14 10:49:56","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-6821845","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-6821845","identity":"rs-6821845","version":["v1"]},"buildId":"8U1c8b4HqxoKbykW_rLl7","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}