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01-05-2022 | Soft Tissue Sarcoma | Brief Report

Novel RGAG1-BCOR gene fusion revealed in a somatic soft tissue sarcoma with a long follow-up

Authors: Mauro Vasella, Ulrich Wagner, Christine Fritz, Kati Seidl, Luca Giudici, Gerhard Ulrich Exner, Holger Moch, Peter Johannes Wild, Beata Bode-Lesniewska

Published in: Virchows Archiv | Issue 5/2022

Abstract

BCOR-rearranged sarcomas are rare and belong to the Ewing-like sarcomas (ELS). Their morphology and histopathological features make the diagnosis challenging. We present a case, initially diagnosed as an unusual extraskeletal myxoid chondrosarcoma (EMC). A 54-year-old male patient developed an asymptomatic swelling of the lower leg. Imaging showed a 9.5-cm large intramuscular soft tissue mass. Due to its morphological and immunohistochemical profile on biopsy, it was initially diagnosed as an EMC. The patient was treated by complete resection and adjuvant radiotherapy and remained free of tumor at 7 years follow-up. Using next-generation sequencing (NGS), we retrospectively identified RGAG1-BCOR gene fusion (confirmed by RT-PCR), which has not been described in somatic soft tissue tumors so far. This finding broadens the spectrum of partner genes in the BCOR-rearranged sarcomas in a tumor with a well-documented, long clinical follow-up.

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Title: Novel RGAG1-BCOR gene fusion revealed in a somatic soft tissue sarcoma with a long follow-up
Authors: Mauro Vasella
Ulrich Wagner
Christine Fritz
Kati Seidl
Luca Giudici
Gerhard Ulrich Exner
Holger Moch
Peter Johannes Wild
Beata Bode-Lesniewska
Publication date: 01-05-2022
Publisher: Springer Berlin Heidelberg
Keywords: Soft Tissue Sarcoma
Sarcoma
Published in: Virchows Archiv / Issue 5/2022
Print ISSN: 0945-6317
Electronic ISSN: 1432-2307
DOI: https://doi.org/10.1007/s00428-021-03160-z

At a glance: The STEP trials

Springer Medicine

Novel RGAG1-BCOR gene fusion revealed in a somatic soft tissue sarcoma with a long follow-up

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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