ArticleNPJ precision oncology2023
Expanded genetic testing of GIST patients identifies high proportion of non-syndromic patients with germline alterations.
Article in NPJ precision oncology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Precision therapeutic strategies for advanced gastrointestinal stromal tumors.Cancer metastasis reviews · 2026Review
- Tumor mutation burden predicts aggressiveness and prognosis of gastrointestinal stromal tumor.Translational cancer research · 2026Article
- Coexisting PTEN and SDHB Mutations in a Pediatric Patient with PTEN Hamartoma Tumor Syndrome: a case report.Frontiers in pediatrics · 2026Article
- Case Report: An uncommon germline variant of familial GISTs: broadening the landscape of inherited GIST syndromes.Frontiers in oncology · 2026Article
- Clinical Use of Liquid-Based Comprehensive Genomic Profiling in Gastrointestinal Stromal Tumors.Laboratory investigation; a journal of technical methods and pathology · 2025Article
- A Review of Genomic Testing and SDH- Deficiency in Gastrointestinal Stromal Tumors: Getting to the GIST.Cancer medicine · 2025Review
- Article
- [Gastrointestinal stromal tumors : Where do we stand?]Pathologie (Heidelberg, Germany) · 2024Review
- KIT/PDGFRA Variant Allele Frequency as Prognostic Factor in Gastrointestinal Stromal Tumors (GISTs): Results From a Multi-Institutional Cohort Study.The oncologist · 2024Article
- Surgical Management of Germline Gastrointestinal Stromal Tumor.Annals of surgical oncology · 2023Review
Corrections and comments
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Authors and funding
20 authors.
Funding
Abstract
Traditional genetic testing for patients with gastrointestinal stromal tumors (GISTs) focus on those with syndromic features. To assess whether expanded genetic testing of GIST patients could identify hereditary cancer predisposition, we analyzed matched tumor-germline sequencing results from 103 patients with GISTs over a 6-year period. Germline pathogenic/likely pathogenic (P/LP) variants in GIST-associated genes (SDHA, SDHB, SDHC, NF1, KIT) were identified in 69% of patients with KIT/PDGFRA-wildtype GISTs, 63% of whom did not have any personal or family history of syndromic features. To evaluate the frequency of somatic versus germline variants identified in tumor-only sequencing of GISTs, we analyzed 499 de-identified tumor-normal pairs. P/LP variants in certain genes (e.g., BRCA1/2, SDHB) identified in tumor-only sequencing of GISTs were almost exclusively germline in origin. Our results provide guidance for genetic testing of GIST patients and indicate that germline testing should be offered to all patients with KIT/PDGFRA-wildtype GISTs regardless of their history of syndromic features.
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Registered trials
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