TY  - JOUR
A1  - Vasella, Mauro Giovanni
A1  - Wagner, Ulrich
A1  - Fritz-Kuisle, Christine
A1  - Seidl, Kati
A1  - Giudici, Luca
A1  - Exner, Gerhard Ulrich
A1  - Moch, Holger
A1  - Wild, Peter Johannes
A1  - Bode-Lasniewska, Beata
T1  - Novel RGAG1-BCOR gene fusion revealed in a somatic soft tissue sarcoma with a long follow-up
T2  - Virchows Archiv
N2  - 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.
KW  - Sarcoma
KW  - Ewing-like
KW  - Next-generation sequencing
KW  - BCOR
KW  - RGAG1
Y1  - 2021
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/63624
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-636241
SN  - 1432-2307
N1  - Open Access funding provided by Universität Zürich.
VL  - 480.2021
IS  - 5
SP  - 1107
EP  - 1114
PB  - Springer
CY  - Berlin ; Heidelberg
ER  -