Congenital undifferentiated sarcoma associated to BCOR-CCNB3 gene fusion

Small round cell sarcomas are aggressive bone and soft tissue tumors that predominantly affect children and young adults. A new group of sarcomas with a recurrent BCOR-CCNB3 gene fusion has been recently identified in previously unclassifiable small round cell sarcomas. BCOR-CCNB3 sarcomas share cli...

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Bibliographic Details
Published in:	Pathology, research and practice Vol. 213; no. 11; pp. 1435 - 1439
Main Authors:	Alfaro-Cervello, Clara, Andrade-Gamarra, Verónica, Nieto, Gema, Navarro, Lara, Martín-Vañó, Susana, García de la Torre, Juan Pablo, Bengoa Caamaño, María, García Mauriño, Mª Luisa, Noguera, Rosa, Navarro, Samuel
Format:	Journal Article
Language:	English
Published:	Germany Elsevier GmbH 01-11-2017
Subjects:	Adult BCOR-CCNB3 sarcoma Biomarkers, Tumor - analysis Congenital sarcoma Cyclin B - genetics Diagnosis, Differential Female Gene Fusion - genetics Humans Oncogene Proteins, Fusion - genetics Proto-Oncogene Proteins - genetics Repressor Proteins - genetics Sarcoma - diagnosis Sarcoma - genetics Sarcoma - pathology Small round cell tumor SMARCB1/INI1 Soft Tissue Neoplasms - genetics Soft Tissue Neoplasms - pathology Undifferentiated sarcoma ‘Ewing-like’ sarcoma Small round cell tumor ‘Ewing-like’ sarcoma Undifferentiated sarcoma BCOR-CCNB3 sarcoma Congenital sarcoma SMARCB1/INI1
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Summary:	Small round cell sarcomas are aggressive bone and soft tissue tumors that predominantly affect children and young adults. A new group of sarcomas with a recurrent BCOR-CCNB3 gene fusion has been recently identified in previously unclassifiable small round cell sarcomas. BCOR-CCNB3 sarcomas share clinical and pathologic similarities with Ewing sarcoma, but show a stronger male predilection and less aggressiveness, as well as distinct gene expression profiling and pangenomic SNP array analyses. We report the unusual case of a congenital BCOR-CCNB3 retroperitoneal sarcoma in a female born at 34th gestational week, which was diagnosed in necropsy after 21hours of life. Immunohistochemical analysis showed diffuse expression of CD99 and CCNB3. SNPa showed two focal segmentary deletions at 5q34 and 22q11.23, the latter harboring among others the SMARCB1/INI1 tumor suppressor gene. Immunohistochemistry confirmed loss of INI1 in tumor cells, which has not been previously reported in this type of undifferentiated sarcomas.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0344-0338 1618-0631
DOI:	10.1016/j.prp.2017.07.012