Gastroblastoma with a novel ACTB::GLI1 gene fusion in a 19-year-old male.

Autor: Shabbir J; Department of Pathology and Laboratory Medicine, Hartford Hospital, 85 Seymour Street, Hartford, CT, 06106, USA. Junaid.Shabbir@hhchealth.org., Earle J; Department of Pathology and Laboratory Medicine, Hartford Hospital, 85 Seymour Street, Hartford, CT, 06106, USA., Glomski K; Department of Pathology and Laboratory Medicine, Hartford Hospital, 85 Seymour Street, Hartford, CT, 06106, USA., Mnayer L; Molecular Pathology & Cytogenetics, Hartford Hospital, 85 Seymour Street, Hartford, CT, 06106, USA., Schipper B; Department of Surgical Oncology, Hartford Hospital, 85 Seymour Street, Hartford, CT, 06106, USA., Ligato S; Department of Pathology and Laboratory Medicine, Hartford Hospital, 85 Seymour Street, Hartford, CT, 06106, USA.
Jazyk: angličtina
Zdroj: Virchows Archiv : an international journal of pathology [Virchows Arch] 2024 May; Vol. 484 (5), pp. 859-864. Date of Electronic Publication: 2024 Jan 23.
DOI: 10.1007/s00428-024-03742-7
Abstrakt: Gastroblastoma is a rare gastric biphasic tumor composed of mesenchymal and epithelial elements in variable proportions. These tumors usually arise in the gastric antrum of children and young adults and are reported to harbor a recurrent MALAT1::GLI1 fusion. Herein we report a case of gastroblastoma in a 19-year-old male who presented with intermittent epigastric abdominal discomfort. Antrectomy revealed a 5.6-cm multi-lobulated, tan-pink mass with solid and focally cystic areas involving the submucosa, muscularis propria, and subserosa. All tumor cells demonstrated immunoreactivity for GLI-1, CD56, and vimentin; epithelial elements expressed pancytokeratins (AE1/AE3 and Oscar), and mesenchymal cells demonstrated focal positivity for CD10. Next generation sequencing revealed a novel ACTB::GLI1 fusion without evidence of the recurrent MALAT1::GLI1 fusion. Nine months after surgery, the patient is well without evidence of recurrence or metastases. To our knowledge, this is the first case of gastroblastoma harboring this novel ACTB::GLI1 fusion.
(© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
Databáze: MEDLINE
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