Gastroblastoma with a novel EWSR1‐CTBP1 fusion presenting in adolescence. Issue 9 (7th June 2021)

• Record Type: Journal Article
• Authors: 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.
• Is Part Of: Genes, chromosomes & cancer. Volume 60:Issue 9(2021)
• Page Start: 640
• Page End: 646
• Publication Date: 2021-06-07
• Subjects: CTBP1 -- EWSR1 -- epithelial‐mesenchymal transition -- gastroblastoma -- stomach -- Wiskott‐Aldrich syndrome; Cancer -- Genetic aspects -- Periodicals; 616.994042
• DOI: 10.1002/gcc.22973
• Languages: English
• ISSNs: 1045-2257

Abstract

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.