ArticleCancer science2024
Molecular and clinicopathological features of KIT/PDGFRA wild-type gastrointestinal stromal tumors.
Article in Cancer science, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 16 citations in OpenAlex.
- Precision therapeutic strategies for advanced gastrointestinal stromal tumors.Cancer metastasis reviews · 2026Review
- Periampullary GIST in a neurofibromatosis type 1 patient with idiopathic thrombocytopenic purpura - a rare case report at a tertiary care center in Bangladesh.International journal of surgery case reports · 2026Article
- RNA-Based and DNA-Based Next-Generation Sequencing of KIT and PDGFRA Mutations in Gastrointestinal Stromal Tumors: Analytical Performance and Epidemiologic Insights.Translational oncology · 2026Article
- Clinical significance of comprehensive genomic profiling in unresectable or recurrent gastrointestinal stromal tumors: a multicenter retrospective cohort study.Journal of gastroenterology · 2026Article
- Rare co-occurrence of gastrointestinal stromal tumors and leiomyomas: A case report and review of the literature.Experimental and therapeutic medicine · 2026Article
- Targeted Therapy for Advanced Gastrointestinal Stromal Tumors: Evolution and Future Directions.Drug design, development and therapy · 2026Review
- Performance and clinical utility of two targeted multigene panels for GIST molecular characterization.Scientific reports · 2025Article
- The Mechanisms of Imatinib Resistance in Gastrointestinal Stromal Tumours: Theoretical Basis and Therapeutic Aspect.Journal of cellular and molecular medicine · 2025Review
- Safety and feasibility of lapatinib for the treatment of a EGFR1/HER-2-positive advanced gastrointestinal stromal tumor in a cat.Brazilian journal of veterinary medicine · 2025Article
- Gastrointestinal stromal tumor with secondary thrombocytosis: a case report of a high-risk patient.Frontiers in medicine · 2025Article
- Case Report: Dramatic response to entritinib in a patient with gastrointestinal stromal tumor positive forFrontiers in oncology · 2025Article
- circ_SMA4 promotes gastrointestinal stromal tumors malignant progression by sponging miR-494-3p/KIT axis and activating JAK/STAT pathway.Scientific reports · 2024Article
- Two different mutational types of familial gastrointestinal stromal tumors: Two case reports.World journal of gastrointestinal oncology · 2024Article
- Gastrointestinal Stromal Tumors (GISTs) in Pediatric Patients: A Case Report and Literature Review.Children (Basel, Switzerland) · 2024Review
- Molecular and clinicopathological features of KIT/PDGFRA wild-type gastrointestinal stromal tumors.Cancer science · 2024Article
- Small bowel GISTs: clinicopathological patterns and the role of inflammatory markers.Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologieArticle
Corrections and comments
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Authors and funding
9 authors at 8 institutions in 2 countries.
Funding
Abstract
Approximately 10% of gastrointestinal stromal tumors (GISTs) harbor reportedly no KIT and PDGFRA mutations (wild-type GISTs). The clinicopathological features and oncologic outcomes of wild-type GISTs based on molecular profiles are unknown. We recruited 35 wild-type GIST patients from the two registry studies of high-risk GISTs between 2012 and 2015 and primary GISTs between 2003 and 2014. Molecular profiling of wild-type GISTs was performed by targeted next-generation sequencing (NGS) using formalin-fixed paraffin-embedded tumor samples. Among 35 wild-type GISTs, targeted NGS analysis detected NF1, SDH, or BRAF mutation: 16 NF1-GISTs with various NF1 mutations, 12 SDH-GISTs (4 with SDHA mutations, 4 with SDHB mutations, and 4 with SDHB-negative staining), and 5 BRAF-GISTs with the V600E mutation. Two GISTs showed no mutations based on our targeted NGS analysis. Additional gene mutations were infrequent in primary wild-type GISTs and found in TP53, CREBBP, CDKN2A, and CHEK2. Most NF1-GISTs were located in the small intestine (N = 12; 75%) and showed spindle cell features (N = 15; 94%) and multiple tumors (N = 6, 38%) with modest proliferation activities. In contrast, SDH-GISTs were predominantly found in the stomach (N = 11; 92%), exhibiting epithelioid cell (N = 6; 50%) and multiple (N = 6, 50%) features. The overall survival of patients with SDH-GISTs appeared to be better than that of BRAF-GISTs (p = 0.0107) or NF1-GISTs (p = 0.0754), respectively. In conclusion, major molecular changes in wild-type GISTs include NF1, SDH, and BRAF. NF1-GISTs involved multifocal spindle cell tumors in the small intestine. SDH-GISTs occurred in young patients and were multifocal in the stomach and clinically indolent.
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Registered trials
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