Novel RGAG1-BCOR gene fusion revealed in a somatic soft tissue sarcoma with a long follow-up
- 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.
Author: | Mauro Giovanni VasellaORCiDGND, Ulrich WagnerORCiD, Christine Fritz-KuisleGND, Kati SeidlORCiDGND, Luca GiudiciGND, Gerhard Ulrich ExnerGND, Holger MochORCiDGND, Peter Johannes WildORCiDGND, Beata Bode-LasniewskaORCiDGND |
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URN: | urn:nbn:de:hebis:30:3-636241 |
DOI: | https://doi.org/10.1007/s00428-021-03160-z |
ISSN: | 1432-2307 |
Parent Title (English): | Virchows Archiv |
Publisher: | Springer |
Place of publication: | Berlin ; Heidelberg |
Document Type: | Article |
Language: | English |
Date of Publication (online): | 2021/07/31 |
Date of first Publication: | 2021/07/31 |
Publishing Institution: | Universitätsbibliothek Johann Christian Senckenberg |
Release Date: | 2022/07/11 |
Tag: | BCOR; Ewing-like; Next-generation sequencing; RGAG1; Sarcoma |
Volume: | 480.2021 |
Issue: | 5 |
Page Number: | 8 |
First Page: | 1107 |
Last Page: | 1114 |
Note: | Open Access funding provided by Universität Zürich. |
HeBIS-PPN: | 502525533 |
Institutes: | Medizin |
Dewey Decimal Classification: | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
Sammlungen: | Universitätspublikationen |
Licence (German): | Creative Commons - Namensnennung 4.0 |