Genetic variant of SRF-rearranged myofibroma with a misleading nuclear expression of STAT6 and STAT6 involvement as 3' fusion partner.
Virchows Arch
; 478(3): 597-603, 2021 Mar.
Article
em En
| MEDLINE
| ID: mdl-32529351
ABSTRACT
Pediatric neoplasms with a myofibroblastic differentiation are frequent in children, in particular myofibroma. Recently, a novel deep soft tissue myofibroblastic neoplasm has been described with high cellularity, a smooth muscle phenotype and SRF-RELA fusion. We report the case of a 15-year-old boy who presented with a tumor of the deep soft tissue of the arm, with overlapping histological features with the recently described SRF-RELA group of myofibromas but differing by the presence of calcifications, a novel SRF-STAT6 fusion transcript and nuclear expression of STAT6. No local recurrence nor distant metastasis was detected at the current follow-up of 29 months. The clinical relevance of this novel fusion requires further investigations.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias de Tecidos Moles
/
Rearranjo Gênico
/
Biomarcadores Tumorais
/
Núcleo Celular
/
Fator de Resposta Sérica
/
Miofibroma
/
Fator de Transcrição STAT6
/
Fusão Gênica
Limite:
Adolescent
/
Humans
/
Male
Idioma:
En
Revista:
Virchows Arch
Assunto da revista:
BIOLOGIA MOLECULAR
/
PATOLOGIA
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
França