Gastroblastoma With MALAT1 :: GLI1 Fusion Gene in an 18-Year-Old Man: A Case Report and Literature Review.
Qi Wu, Yufei Liu
✦ AI-curated · Sources linked
Case in brief
An 18-year-old man was found to have a gastroblastoma, a rare biphasic neoplasm. Histology showed predominantly epithelioid cells in nests, cords, glands, and rosette-like structures, with focal spindle cells and rare mitoses. Epithelioid cells expressed AE1/AE3 and CD56, with partial CD10 expression; spindle cells expressed CD10 and CD56. Next-generation sequencing identified a MALAT1::GLI1 fusion. After surgical resection, no recurrence or metastasis was observed during 17 months of postoperative follow-up.
What made this case unusual
The tumor combined a biphasic epithelioid–spindle-cell morphology with a MALAT1::GLI1 fusion, findings that helped characterize this rare neoplasm.
Diagnostic / clinical pearl
Gastroblastoma diagnosis requires integration of the biphasic histology with immunophenotypic findings; molecular analysis can provide additional diagnostic support.