{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T04:33:40Z","timestamp":1790829220650,"version":"4.1.0"},"reference-count":36,"publisher":"Scientific Scholar","issue":"6","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2019,12]]},"abstract":"\n Background & objectives:<\/jats:title>\n Certain genetically defined undifferentiated round cell sarcomas, namely BCOR-CCNB3<\/jats:italic> and CIC-DUX4<\/jats:italic> positive, have been described. Here we present detailed clinicopathologic features and molecular results in such cases.<\/jats:p>\n <\/jats:sec>\n \n Methods:<\/jats:title>\n Fifty one cases of undifferentiated round cell sarcomas, including 32 cases, tested for BCOR-CCNB3<\/jats:italic> and CIC-DUX4<\/jats:italic> fusions, by reverse transcription polymerase chain reaction technique and 44 tumours, for CCNB3 immunostaining, were analyzed.<\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n Twenty seven (52.9%) tumours occurred in males and 24 (47%) in females; in soft tissues (38; 74.5%), commonly, trunk and extremities and bones (13; 25.4%), frequently, femur and tibia. Five of 32 (15.6%) tested cases were positive for BCOR-CCNB3<\/jats:italic> fusion and seven (21.8%) for CIC-DUX4<\/jats:italic> fusions. Histopathologically, CIC-DUX4<\/jats:italic>-positive sarcomas comprised nodular aggregates of round to polygonal cells, containing hyperchromatic nuclei, prominent nucleoli and moderate cytoplasm, with focal myxoid stroma and variable necrosis, in certain cases. BCOR-CCNB3<\/jats:italic>-positive sarcomas mostly comprised diffusely arranged, round to oval to short spindly cells with angulated nuclei, vesicular chromatin, inconspicuous nucleoli and interspersed vessels. Immunohistochemically, tumour cells were positive for MIC2 in 24 of 49 (48.9%) and CCNB3 in 12 of 44 (27.2%) cases. Four of five BCOR-CCNB3<\/jats:italic>-positive sarcomas showed CCNB3 immunostaining and 6 of 7 CIC-DUX4<\/jats:italic>-positive sarcomas displayed WT1 immunostaining. Most patients (27\/37) (72.9%) underwent surgical resection and chemotherapy. Median overall survival was 12 months, and disease-free survival was seven months.<\/jats:p>\n <\/jats:sec>\n \n Interpretation & conclusions:<\/jats:title>\n Undifferentiated round cell sarcomas are rare; mostly occur in soft tissues of extremities, with CIC-DUX4<\/jats:italic> positive, as these are relatively more frequent than BCOR-CCNB3<\/jats:italic> positive sarcomas. CCNB3 and WT1 are useful immunostains for triaging such cases for BCOR-CCNB3<\/jats:italic> and CIC-DUX4<\/jats:italic> fusion testing, respectively. Overall, these are relatively aggressive tumours, especially CIC-DUX4<\/jats:italic>-positive sarcomas.<\/jats:p>\n <\/jats:sec>","DOI":"10.4103\/ijmr.ijmr_2144_18","type":"journal-article","created":{"date-parts":[[2020,1,30]],"date-time":"2020-01-30T13:32:15Z","timestamp":1580391135000},"page":"557-574","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":26,"title":["Clinicopathologic features of undifferentiated round cell sarcomas of bone & soft tissues"],"prefix":"10.25259","volume":"150","author":[{"given":"Bharat","family":"Rekhi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priyanka","family":"Kembhavi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Surya Narayan","family":"Mishra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omshree","family":"Shetty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jyoti","family":"Bajpai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ajay","family":"Puri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10894","reference":[{"key":"R2-7-20241212","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1007\/s12253-013-9721-2","article-title":"Clinicopathological and molecular spectrum of Ewing sarcomas\/PNETs, including validation of EWSR1 rearrangement by conventional and array FISH technique in certain cases","volume":"20","author":"Rekhi","year":"2014","journal-title":"Pathol Oncol Res"},{"key":"R3-7-20241212","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1111\/his.12281","article-title":"Round cell sarcomas beyond Ewing: Emerging entities","volume":"64","author":"Antonescu","year":"2014","journal-title":"Histopathology"},{"key":"R4-7-20241212","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1002\/gcc.22132","article-title":"Novel ZC3H7B-BCOR, MEAF6-PHF1, and EPC1-PHF1 fusions in ossifying fibromyxoid tumours-molecular characterization shows genetic overlap with endometrial stromal sarcoma","volume":"53","author":"Antonescu","year":"2014","journal-title":"Genes Chromosomes Cancer"},{"key":"R5-7-20241212","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1097\/PAS.0000000000000591","article-title":"Novel BCOR-MAML3 and ZC3H7B-BCOR gene fusions in undifferentiated small blue round cell sarcomas","volume":"40","author":"Specht","year":"2016","journal-title":"Am J Surg Pathol"},{"key":"R6-7-20241212","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1002\/gcc.22172","article-title":"Distinct transcriptional signature and immunoprofile of CIC-DUX4 fusion-positive round cell tumours compared to EWSR1-rearranged Ewing sarcomas: further evidence toward distinct pathologic entities","volume":"53","author":"Specht","year":"2014","journal-title":"Genes Chromosomes Cancer"},{"key":"R7-7-20241212","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1038\/ng.1107","article-title":"A new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusion","volume":"44","author":"Pierron","year":"2012","journal-title":"Nat Genet"},{"key":"R8-7-20241212","doi-asserted-by":"crossref","first-page":"1307","DOI":"10.1097\/PAS.0000000000000223","article-title":"BCOR-CCNB3 (Ewing-like) sarcoma: A clinicopathologic analysis of 10 cases, in comparison with conventional Ewing sarcoma","volume":"38","author":"Puls","year":"2014","journal-title":"Am J Surg Pathol"},{"key":"R9-7-20241212","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/modpathol.2014.139","article-title":"BCOR-CCNB3 fusions are frequent in undifferentiated sarcomas of male children","volume":"28","author":"Peters","year":"2015","journal-title":"Mod Pathol"},{"key":"R10-7-20241212","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.anndiagpath.2016.03.002","article-title":"Defining Ewing and Ewing-like small round cell tumours (SRCT): The need for molecular techniques in their categorization and differential diagnosis. A study of 200 cases","volume":"22","author":"Machado","year":"2016","journal-title":"Ann Diagn Pathol"},{"key":"R11-7-20241212","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1002\/gcc.20945","article-title":"High prevalence of CIC fusion with double-homeobox (DUX4) transcription factors in EWSR1-negative undifferentiated small blue round cell sarcomas","volume":"51","author":"Italiano","year":"2012","journal-title":"Genes Chromosomes Cancer"},{"key":"R12-7-20241212","doi-asserted-by":"crossref","first-page":"2125","DOI":"10.1093\/hmg\/ddl136","article-title":"Fusion between CIC and DUX4 up-regulates PEA3 family genes in Ewing-like sarcomas with t(4;19)(q35;q13) translocation","volume":"15","author":"Kawamura-Saito","year":"2006","journal-title":"Hum Mol Genet"},{"key":"R13-7-20241212","doi-asserted-by":"crossref","first-page":"498","DOI":"10.2353\/jmoldx.2007.070053","article-title":"Undifferentiated small round cell sarcomas with rare EWS gene fusions: Identification of a 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