29-04-2024 | BRIEF REPORT
Gastric mesenchymal tumor with gastroblastoma-like features harboring PTCH1::GLI2 fusion
Authors:
Takahiro Shibayama, Akimasa Hayashi, Nobutsugu Abe, Atsuko Ohki, Kaishi Satomi, Junji Shibahara
Published in:
Virchows Archiv
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Excerpt
Gastroblastoma is an extremely rare gastric tumor characterized by an epithelio-mesenchymal biphasic morphology with recurrent
MALAT1::GLI1 or
ACTB::GLI1 gene fusion and clinically indolent behavior [
1‐
4]. Although recent molecular diagnostic advances have elucidated novel fusion gene other than
GLI1 rearrangement, including
GLI2::PTCH1 and
EWSR1::CTBP1 in a single gastric tumor case diagnosed as “gastroblastoma,” respectively [
5‐
7], the pathogenesis of this neoplasm remains unclear. Herein, we report a gastric mesenchymal tumor with
GLI2::PTCH1 gene fusion displaying overlapping morphological features and molecular background with gastroblastoma, but lacking genuine epithelial differentiation on histological and immunohistochemical grounds. An accurate distinction between gastroblastoma and a minor subset of gastric mesenchymal neoplasms with gastroblastoma-like biphasic features poses a diagnostic challenge. …