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Gastroblastoma with a novel EWSR1‐CTBP1 fusion presenting in adolescence
Author(s) -
Koo Selene C.,
LaHaye Stephanie,
Kovari Bence P.,
Schieffer Kathleen M.,
Ranalli Mark A.,
Aldrink Jennifer H.,
Michalsky Marc P.,
Colace Susan,
Miller Katherine E.,
Bedrosian Tracy A.,
Leraas Kristen M.,
Voytovich Kyle,
Wheeler Gregory,
Brennan Patrick,
Fitch James,
Kelly Benjamin J.,
McGrath Sean D.,
Miller Anthony R.,
White Peter,
Magrini Vincent,
Wilson Richard K.,
Mardis Elaine R.,
Lauwers Gregory Y.,
Baker Peter B.,
Cottrell Catherine E.
Publication year - 2021
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.22973
Subject(s) - pathogenesis , biology , cancer research , pathology , gene expression profiling , medicine , gene , gene expression , genetics
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.