What´s new in Ewing-like sarcoma family? Soft tissue and bone sarcomas with CIC/BCOR rearrangement. Review of the literature and first personal experience

Czech version

Authors: Zdeněk Kinkor ¹; Petr Grossmann ¹; Magdaléna Dubová ²; David Bludovský ²; Andrea Černá ³; Lenka Krsková ⁴; Petr Lhoták ⁵
Authors‘ workplace: Bioptická laboratoř s. r. o., Šiklův ústav patologie, LF UK, Plzeň ¹; Klinika zobrazovacích metod, FN a LF UK, Plzeň ²; Medicyt s. r. o., Medirex group, Bratislava ³; Ústav patologie a molekulární medicíny, 2. LF UK a FN Motol, Praha ⁴; Radiologické oddělení, Nemocnice České Budějovice ⁵
Published in: Čes.-slov. Patol., 53, 2017, No. 4, p. 175-180
Category: Original Article

Overview

The literature is reviewed regarding of a rare molecularly defined group of sarcomas with rearrangement of both CIC and BCOR genes, which were originally placed into the EWSR1wt Ewing-like category. Personal experience with three cases demonstrating difficulties of this issue is added. Both groups of lesions differ not only by age and topography, but also vary in both the prognostic and the predictive parameters. CIC-rearranged tumors are very aggressive and almost never occur in the skeleton; in contrary, the BCOR-rearranged ones are predominantly bone tumors in young males behaving even better than classical Ewing sarcoma. From the morphologic point of view, it turned out to be a salient finding that these types of neoplasm might leave canonical morphotype of small blue round cell sarcoma. Instead of it, they are not uncommonly characterized as a relatively uniform spindle cell proliferation with prevailing myxoid transformation deserving much broader differential diagnosis. Our three cases reports display difficulties in reaching the correct diagnosis even by implementing sophisticated molecular techniques in routine practice. Notwithstanding of exhaustive molecular assays used, one may still encounter a lesion where original descriptive term Ewing-lie sarcoma remains uncorrected.

Keywords:
Ewing-like sarcoma – undifferentiated small round cell sarcoma – soft tissue – bone – CIC-rearranged – BCOR-rearranged – CIC-DUX4 – BCOR-CCNB3

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Article was published in

Czecho-Slovak Pathology

2017 Issue 4