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

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Abstrakt

Tytuł:: Novel RGAG1-BCOR gene fusion revealed in a somatic soft tissue sarcoma with a long follow-up.
Autorzy:: Vasella M; Department of Plastic Surgery and Hand Surgery, University Hospital Zurich, Rämistrasse 100, 8091, Zurich, Switzerland. .
Wagner U; Institute of Pathology and Molecular Pathology, University Hospital Zurich, Zurich, Switzerland.
Fritz C; Institute of Pathology and Molecular Pathology, University Hospital Zurich, Zurich, Switzerland.
Seidl K; Institute of Pathology and Molecular Pathology, University Hospital Zurich, Zurich, Switzerland.
Giudici L; Institute of Pathology and Molecular Pathology, University Hospital Zurich, Zurich, Switzerland.
Exner GU; Orthopaedie Zentrum Zuerich, Ozz, Zurich, Switzerland.
Moch H; Institute of Pathology and Molecular Pathology, University Hospital Zurich, Zurich, Switzerland.
Wild PJ; Senckenberg Institute of Pathology, Goethe University Frankfurt, Frankfurt, Germany.
Bode-Lesniewska B; Pathology Institute Enge and University of Zurich, Zurich, Switzerland.
Źródło:: Virchows Archiv : an international journal of pathology [Virchows Arch] 2022 May; Vol. 480 (5), pp. 1107-1114. Date of Electronic Publication: 2021 Jul 31.
Typ publikacji:: Case Reports; Journal Article
Język:: English
Imprint Name(s):: Original Publication: Berlin ; New York : Springer International, c1994-
MeSH Terms:: Bone Neoplasms*/pathology
Sarcoma*/pathology
Soft Tissue Neoplasms*/genetics
Biomarkers, Tumor/analysis ; Biomarkers, Tumor/genetics ; Chondrosarcoma ; Follow-Up Studies ; Gene Fusion ; Humans ; Male ; Middle Aged ; Neoplasms, Connective and Soft Tissue ; Oncogene Proteins, Fusion/genetics ; Proto-Oncogene Proteins/genetics ; Repressor Proteins/genetics ; Retrospective Studies
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Contributed Indexing:: Keywords: BCOR; Ewing-like; Next-generation sequencing; RGAG1; Sarcoma
Substance Nomenclature:: 0 (BCOR protein, human)
0 (Biomarkers, Tumor)
0 (Oncogene Proteins, Fusion)
0 (Proto-Oncogene Proteins)
0 (Repressor Proteins)
SCR Disease Name:: Chondrosarcoma, Extraskeletal Myxoid
Entry Date(s):: Date Created: 20210731 Date Completed: 20220426 Latest Revision: 20220507
Update Code:: 20240105
PubMed Central ID:: PMC9033707
DOI:: 10.1007/s00428-021-03160-z
PMID:: 34331570
: Czasopismo naukowe

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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.
(© 2021. The Author(s).)

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