{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T13:14:40Z","timestamp":1779196480762,"version":"3.51.4"},"reference-count":16,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,4,29]]},"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:p>\n                    <jats:italic>CIC::DUX4<\/jats:italic>\n                    sarcomas are aggressive soft tissue tumours that often mimic Ewing sarcoma but are distinct in their molecular and clinical behaviour. We describe a young adult male initially managed for a presumed primitive neuroectodermal tumour, later confirmed to have a\n                    <jats:italic>CIC::DUX4<\/jats:italic>\n                    fusion-positive sarcoma through fluorescence in situ hybridisation and NGS analysis. Despite initial response to Ewing-like chemotherapy (vincristine, doxorubicin and cyclophosphamide regimen), the disease rapidly progressed with widespread visceral metastases, including lungs, spleen, kidneys and soft tissues, eventually leading to death. This case highlights the diagnostic challenges posed by\n                    <jats:italic>CIC::DUX4<\/jats:italic>\n                    sarcomas, their poor response to conventional chemotherapy and the need for early molecular characterisation to guide prognosis and management. Increased awareness and tailored therapeutic approaches are critical in improving outcomes for this molecular subtype.\n                  <\/jats:p>","DOI":"10.1136\/bcr-2025-268703","type":"journal-article","created":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T12:55:15Z","timestamp":1779195315000},"page":"e268703","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["<i>CIC::DUX4<\/i>\n                    sarcoma: clinical, diagnostic and therapeutic insights into a distinct oncologic entity"],"prefix":"10.1136","volume":"19","author":[{"given":"Kinjal","family":"Singh","sequence":"first","affiliation":[{"name":"Department of Medical Oncology, All India Institute of Medical Sciences New Delhi, New Delhi, DL, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sameer","family":"Rastogi","sequence":"additional","affiliation":[{"name":"Department of Medical Oncology, All India Institute of Medical Sciences New Delhi, New Delhi, DL, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kanu Priya","family":"Bhatia","sequence":"additional","affiliation":[{"name":"Department of Medical Oncology, All India Institute of Medical Sciences New Delhi, New Delhi, DL, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adarsh Wamanrao","family":"Barwad","sequence":"additional","affiliation":[{"name":"Department of Pathology, All India Institute of Medical Sciences New Delhi, New Delhi, DL, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2026,5,19]]},"reference":[{"key":"2026051905550757000_19.5.e268703.1","doi-asserted-by":"publisher","DOI":"10.32074\/1591-951X-213"},{"key":"2026051905550757000_19.5.e268703.2","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000000846"},{"key":"2026051905550757000_19.5.e268703.3","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000000570"},{"key":"2026051905550757000_19.5.e268703.4","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20945"},{"key":"2026051905550757000_19.5.e268703.5","doi-asserted-by":"crossref","first-page":"1805","DOI":"10.1002\/cam4.4580","article-title":"Systemic treatments and outcomes in CIC-rearranged Sarcoma: A national multi-centre clinicopathological series and literature review","volume":"11","author":"Connolly","year":"2022","journal-title":"Cancer Med"},{"key":"2026051905550757000_19.5.e268703.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejca.2023.01.003"},{"key":"2026051905550757000_19.5.e268703.7","first-page":"236","article-title":"Undifferentiated round cell sarcomas with CIC-DUX4 gene fusion: expanding the clinical spectrum","volume":"52","author":"Br\u010di\u0107","year":"2020","journal-title":"Pathology (Phila)"},{"key":"2026051905550757000_19.5.e268703.8","unstructured":"Allirot C , Bidaut AS , Perret C , et al . Sarcoma with CIC::DUX4 gene fusion: case report of kidney tumour in a 12-year-old boy. Case Rep Pathol 2018;1\u20136."},{"key":"2026051905550757000_19.5.e268703.9","doi-asserted-by":"crossref","first-page":"2934","DOI":"10.1002\/cncr.33618","article-title":"Ultra-rare sarcomas: A consensus paper from the Connective Tissue Oncology Society community of experts on the incidence threshold and the list of entities","volume":"127","author":"Stacchiotti","year":"2021","journal-title":"Cancer"},{"key":"2026051905550757000_19.5.e268703.10","first-page":"1675","article-title":"DUX4 immunohistochemistry is a highly sensitive and specific marker for CIC-rearranged sarcoma","volume":"40","author":"Hung","year":"2016","journal-title":"Am J Surg Pathol"},{"key":"2026051905550757000_19.5.e268703.11","doi-asserted-by":"crossref","DOI":"10.3390\/cancers12113092","article-title":"Rare Primary Malignant Bone Sarcomas","volume":"12","author":"Palmerini","year":"2020","journal-title":"Cancers (Basel)"},{"key":"2026051905550757000_19.5.e268703.12","doi-asserted-by":"crossref","DOI":"10.1016\/j.gore.2020.100592","article-title":"CIC-rearranged round cell (Ewing-like) sarcoma of the uterus: Review of the literature","volume":"33","author":"Sedighim","year":"2020","journal-title":"Gynecol Oncol Rep"},{"key":"2026051905550757000_19.5.e268703.13","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.Can-21-1222"},{"key":"2026051905550757000_19.5.e268703.14","doi-asserted-by":"crossref","first-page":"68","DOI":"10.3892\/mco.2021.2230","article-title":"Secondary CIC-rearranged sarcoma responsive to Ewing-type chemotherapy: a case report","volume":"14","author":"Kimbara","year":"2021","journal-title":"Mol Clin Oncol"},{"key":"2026051905550757000_19.5.e268703.15","doi-asserted-by":"crossref","DOI":"10.3390\/cancers14215411","article-title":"CIC-Rearranged Sarcomas: An Intriguing Entity That May Lead the Way to the Comprehension of More Common Cancers","volume":"14","author":"Mancarella","year":"2022","journal-title":"Cancers (Basel)"},{"key":"2026051905550757000_19.5.e268703.16","doi-asserted-by":"crossref","DOI":"10.1038\/s41389-021-00357-4","article-title":"Inactivation of the CIC-DUX4 oncogene through P300\/CBP inhibition, a therapeutic approach for CIC-DUX4 sarcoma","volume":"10","author":"Bosnakovski","year":"2021","journal-title":"Oncogenesis"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-268703","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T12:55:18Z","timestamp":1779195318000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-268703"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5]]},"references-count":16,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2026,5,19]]},"published-print":{"date-parts":[[2026,5]]}},"alternative-id":["10.1136\/bcr-2025-268703"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-268703","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5]]}}}