Primary bone sarcoma with BCOR internal tandem duplication

We present a BCOR-expressing, primary bone, undifferentiated sarcoma case involving an adolescent male ’s left tibia that, unexpectedly, harbored aBCOR ITD instead of aBCOR rearrangement. Furthermore, the patient achieved a partial histologic response after receiving a Ewing sarcoma chemotherapy regimen. Our case expands the clinical spectrum ofBCOR ITD sarcomas and suggests that childhood and adult BCOR-expressing sarcomas with an undifferentiated histology should be considered for bothBCOR rearrangement and ITD  screening. AccurateBCOR mutation identification in undifferentiated sarcomas is essential to define their clinical spectrum and to develop effective management strategies.
Source: Virchows Archiv - Category: Pathology Source Type: research