AUTHOR=Chen Cuimin , Lu Junliang , Wu Huanwen 

TITLE=Case Report: Submucosal gastroblastoma with a novel PTCH1::GLI2 gene fusion in a 58-year-old man

JOURNAL=Frontiers in Oncology

VOLUME=12

YEAR=2022

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2022.935914

DOI=10.3389/fonc.2022.935914

ISSN=2234-943X

ABSTRACT=<p>Gastroblastoma is a rare biphasic tumor of the stomach that generally presents in young patients. <italic>MALAT1</italic>-<italic>GLI1</italic> gene fusion was considered to be the characteristic molecular alteration of this tumor in previous reports. Herein, we described a 58-year-old man with a mass mainly located in the submucosa of the stomach. Microscopic examination showed a biphasic morphology with the same immunohistochemical phenotype as gastroblastoma. Interestingly, a novel <italic>PTCH1::GLI2</italic> fusion rather than <italic>MALAT1-GLI1</italic> fusion was detected in the tumor by RNA-based next generation sequencing (NGS). This was the first report that demonstrated a novel <italic>PTCH1::GLI2</italic> gene fusion in gastroblastoma, and thus expanded the molecular spectrum of this tumor. The underlying pathogenesis merits further investigation.</p>