Gastroblastoma with a novel EWSR1‐CTBP1 fusion presenting in adolescence

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 morp...

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Bibliographic Details
Published in:Genes chromosomes & cancer 2021-09, Vol.60 (9), p.640-646
Main 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.
Format: Article
Language:English
Subjects:
Adolescent
Age of Onset
Alcohol Oxidoreductases - genetics
Carcinoma - genetics
Carcinoma - pathology
CTBP1
Cytology
DNA-Binding Proteins - genetics
epithelial‐mesenchymal transition
EWSR1
Fibroblast growth factor receptors
FLI-1 protein
gastroblastoma
Humans
Male
Mesenchyme
Morphology
Oncogene Proteins, Fusion - genetics
RNA-Binding Protein EWS - genetics
stomach
Stomach Neoplasms - genetics
Stomach Neoplasms - pathology
Tumors
Wiskott‐Aldrich syndrome
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Summary: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.
ISSN:1045-2257
1098-2264
DOI:10.1002/gcc.22973