Primary Adrenal Angiomatoid Fibrous Histiocytoma With Novel EWSR1-ATF1 Gene Fusion Exon-Exon Breakpoint.
Pediatr Dev Pathol
; 22(5): 472-474, 2019 Oct.
Article
em En
| MEDLINE
| ID: mdl-30823861
ABSTRACT
We describe the clinical, pathological, and molecular features of a primary adrenal angiomatoid fibrous histiocytoma (AFH) in an 11-year-old girl presenting with pyrexia of unknown origin. We performed next-generation sequencing-based anchored multiplex polymerase chain reaction (Archer® FusionPlex® sarcoma assay), which revealed an EWSR1-ATF1 gene fusion with novel breakpoints in exon 11 of EWSR1 and exon 3 of ATF1. The pyrexia resolved fully after surgical resection, and the patient was disease-free on follow-up at 1 year and 6 months. This case exemplifies the value of molecular testing of pediatric neoplasms presenting at unusual sites for diagnosis and identification of novel gene fusion breakpoints.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas de Fusão Oncogênica
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Neoplasias das Glândulas Suprarrenais
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Histiocitoma Fibroso Maligno
Tipo de estudo:
Prognostic_studies
Limite:
Child
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Female
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Humans
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article