Aims: Round-cell sarcomas lacking specific translocations represent a diagnostic challenge. The aim of this study was to describe seven cases of CIC-DUX4 fusion-positive sarcomas, including the first reported example arising primarily in bone. Methods and results: Patients ranged in age from 15 years to 44 years (median: 33 years). Six cases arose from the soft tissues, and one from the iliac bone. Morphologically, all cases showed an undifferentiated round-cell population with greater atypia and pleomorphism than Ewing sarcoma. Immunohistochemically, all tumours showed focal and weak positivity for CD99, and five of seven showed nuclear and/or cytoplasmic positivity for Wilms tumour 1. Five patients had lung metastases at presentation. All patients received chemotherapy according to Ewing sarcoma protocols. All but one patient (the one with a bone tumour) died of disease after a mean of 14.5 months from the diagnosis (range: 8-20 months). Conclusions: Our series confirms that CIC-DUX4 fusion-positive sarcomas are aggressive tumours with an adverse prognosis, and with clinical, histological and genetic differences from Ewing sarcoma. The best therapeutic approach needs to be investigated.

CIC-DUX4 fusion-positive round-cell sarcomas of soft tissue and bone: A single-institution morphological and molecular analysis of seven cases

GAMBAROTTI, MARCO;GAMBERI, GABRIELLA;COCCHI, STEFANIA;PALMERINI, EMANUELA;DONATI, DAVIDE MARIA;PICCI, PIERO;VANEL, DANIEL;FERRARI, STEFANO;RIGHI, ALBERTO;
2016

Abstract

Aims: Round-cell sarcomas lacking specific translocations represent a diagnostic challenge. The aim of this study was to describe seven cases of CIC-DUX4 fusion-positive sarcomas, including the first reported example arising primarily in bone. Methods and results: Patients ranged in age from 15 years to 44 years (median: 33 years). Six cases arose from the soft tissues, and one from the iliac bone. Morphologically, all cases showed an undifferentiated round-cell population with greater atypia and pleomorphism than Ewing sarcoma. Immunohistochemically, all tumours showed focal and weak positivity for CD99, and five of seven showed nuclear and/or cytoplasmic positivity for Wilms tumour 1. Five patients had lung metastases at presentation. All patients received chemotherapy according to Ewing sarcoma protocols. All but one patient (the one with a bone tumour) died of disease after a mean of 14.5 months from the diagnosis (range: 8-20 months). Conclusions: Our series confirms that CIC-DUX4 fusion-positive sarcomas are aggressive tumours with an adverse prognosis, and with clinical, histological and genetic differences from Ewing sarcoma. The best therapeutic approach needs to be investigated.
Gambarotti, Marco; Benini, Stefania; Gamberi, Gabriella; Cocchi, Stefania; Palmerini, Emanuela; Sbaraglia, Marta; Donati, Davide; Picci, Piero; Vanel, Daniel; Ferrari, Stefano; Righi, Alberto; Dei Tos, Angelo P
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/594021
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