Novel RGAG1-BCOR gene fusion revealed in a somatic soft tissue sarcoma with a long follow-up.
Biomarkers, Tumor
/ analysis
Bone Neoplasms
/ pathology
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
Sarcoma
/ pathology
Soft Tissue Neoplasms
/ genetics
BCOR
Ewing-like
Next-generation sequencing
RGAG1
Sarcoma
Journal
Virchows Archiv : an international journal of pathology
ISSN: 1432-2307
Titre abrégé: Virchows Arch
Pays: Germany
ID NLM: 9423843
Informations de publication
Date de publication:
May 2022
May 2022
Historique:
received:
07
03
2021
accepted:
07
07
2021
revised:
03
07
2021
pubmed:
1
8
2021
medline:
27
4
2022
entrez:
31
7
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 34331570
doi: 10.1007/s00428-021-03160-z
pii: 10.1007/s00428-021-03160-z
pmc: PMC9033707
doi:
Substances chimiques
BCOR protein, human
0
Biomarkers, Tumor
0
Oncogene Proteins, Fusion
0
Proto-Oncogene Proteins
0
Repressor Proteins
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1107-1114Informations de copyright
© 2021. The Author(s).
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