Gastroblastoma with a novel EWSR1-CTBP1 fusion presenting in adolescence.
Genes Chromosomes Cancer
; 60(9): 640-646, 2021 09.
Article
em En
| MEDLINE
| ID: mdl-34041825
ABSTRACT
Gastroblastomas are rare tumors with a biphasic epithelioid/spindle cell morphology that typically present in early adulthood and have recurrent MALAT1-GLI1 fusions. We describe an adolescent patient with Wiskott-Aldrich syndrome who presented with a large submucosal gastric tumor with biphasic morphology. Despite histologic features consistent with gastroblastoma, a MALAT1-GLI1 fusion was not found in this patient's tumor; instead, comprehensive molecular profiling identified a novel EWSR1-CTBP1 fusion and no other significant genetic alterations. The tumor also overexpressed NOTCH and FGFR by RNA profiling. The novel fusion and expression profile suggest a role for epithelial-mesenchymal transition in this tumor, with potential implications for the pathogenesis of biphasic gastric tumors such as gastroblastoma.
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Base de dados:
MEDLINE
Assunto principal:
Neoplasias Gástricas
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Carcinoma
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Proteínas de Fusão Oncogênica
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Proteína EWS de Ligação a RNA
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Proteínas de Ligação a DNA
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Oxirredutases do Álcool
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article