Novel RGAG1-BCOR gene fusion revealed in a somatic soft tissue sarcoma with a long follow-up.
Virchows Arch
; 480(5): 1107-1114, 2022 May.
Article
en En
| MEDLINE
| ID: mdl-34331570
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.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Sarcoma
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Neoplasias de los Tejidos Blandos
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Neoplasias Óseas
Tipo de estudio:
Observational_studies
/
Prognostic_studies
Límite:
Humans
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Male
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Middle aged
Idioma:
En
Revista:
Virchows Arch
Asunto de la revista:
BIOLOGIA MOLECULAR
/
PATOLOGIA
Año:
2022
Tipo del documento:
Article
País de afiliación:
Suiza