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PMID (31273885)
Authors Kobayashi M, Inaguma S, Raffeld M, Kato H, Suzuki S, Wakasugi T, Mitsui A, Kuwabara Y, Lasota J, Ikeda H, Miettinen M, Takahashi S
Title Epithelioid variant of gastrointestinal stromal tumor harboring PDGFRA mutation and MLH1 gene alteration: A case report.
Journal Vol Issue Date Pages Journal Short Title
Pathology international 2019 Jul 04 541-546 Pathol Int
URL
Abstract Text Gastrointestinal stromal tumors (GISTs) are the most important and common mesenchymal tumors of the gastrointestinal tract, especially in the stomach. GISTs are usually driven by activating mutations in either KIT or PDGFRA genes. It is known that activating gene mutations predicts, to a certain extent, not only the morphology of the tumor cells but also a response to treatment with tyrosine kinase inhibitors. Here, we present a case of an epithelioid variant of GIST harboring PDGFRA and MLH1 gene alterations in the stomach of a 55-year-old Japanese woman. The tumor of 98 mm with multiple cysts showed exophytic growth from the gastric fundus. Histopathologically, it consisted of scattered medium-sized epithelioid tumor cells in a loose myxoid background. Based on c-kit and DOG-1 immunoreactivity and a PDGFRA mutation (p.Trp559_Arg560del), the tumor was diagnosed as an epithelioid variant GIST. Interestingly, it had a gene alteration (p.Met524Ile) in the MLH1 gene of unknown pathogenicity. It was assigned to Group 3a (low risk for malignant behavior). After surgery, the patient has been on imatinib therapy and disease-free for 10 months.

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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
MLH1 M524I missense unknown MLH1 M524I lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (UniProt.org). M524I has been identified in the scientific literature (PMID: 31273885, PMID: 35932099), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Jan 2024).
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References