ArticleBMC cancer2015
Somatic loss of function mutations in neurofibromin 1 and MYC associated factor X genes identified by exome-wide sequencing in a wild-type GIST case.
Article in BMC cancer, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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21 citing papers in PubMed, 35 citations in OpenAlex.
- Precision therapeutic strategies for advanced gastrointestinal stromal tumors.Cancer metastasis reviews · 2026Review
- Establishment and genomic validation of novel patient-derived xenograft models for drug discovery in gastrointestinal stromal tumor.BMC cancer · 2026Article
- Molecular Profiling ofCancers · 2024Article
- Utility of Clinical Next Generation Sequencing Tests in KIT/PDGFRA/SDH Wild-Type Gastrointestinal Stromal Tumors.Cancers · 2024Article
- NCCN Guidelines® Insights: Gastrointestinal Stromal Tumors, Version 2.2022.Journal of the National Comprehensive Cancer Network : JNCCN · 2022Article
- Gastrointestinal Stromal Tumors Mimicking Gynecologic Disease: Clinicopathological Analysis of 20 Cases.Diagnostics (Basel, Switzerland) · 2022Article
- New treatment strategies for advanced-stage gastrointestinal stromal tumours.Nature reviews. Clinical oncology · 2022Review
- Update on Molecular Genetics of Gastrointestinal Stromal Tumors.Diagnostics (Basel, Switzerland) · 2021Review
- Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.Frontiers in cell and developmental biology · 2021Article
- Targeted Deep Sequencing Reveals Unrecognized KIT Mutation Coexistent with NF1 Deficiency in GISTs.Cancer management and research · 2021Article
- The Emerging Role of the FGF/FGFR Pathway in Gastrointestinal Stromal Tumor.International journal of molecular sciences · 2020Review
- Proteomic research in sarcomas - current status and future opportunities.Seminars in cancer biology · 2020Review
- Case report of ascending colon cancer and multiple jejunal GISTs in a patient with neurofibromatosis type 1 (NF1).BMC cancer · 2019Article
- Gain of FGF4 is a frequent event in KIT/PDGFRA/SDH/RAS-P WT GIST.Genes, chromosomes & cancer · 2019Article
- Targeted Therapies in the Treatment of Sarcomas.Targeted oncology · 2018Review
- Double agents: genes with both oncogenic and tumor-suppressor functions.Oncogenesis · 2018Article
- What is New in Gastrointestinal Stromal Tumor?Advances in anatomic pathology · 2017Review
- Succinate dehydrogenase deficiency in a PDGFRA mutated GIST.BMC cancer · 2017Review
- The progressive fragmentation of the KIT/PDGFRA wild-type (WT) gastrointestinal stromal tumors (GIST).Journal of translational medicine · 2017Article
- MAX inactivation is an early event in GIST development that regulates p16 and cell proliferation.Nature communications · 2017Article
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundApproximately 10-15 % of gastrointestinal stromal tumors (GISTs) lack gain of function mutations in the KIT and platelet-derived growth factor receptor alpha (PDGFRA) genes. An alternate mechanism of oncogenesis through loss of function of the succinate-dehydrogenase (SDH) enzyme complex has been identified for a subset of these "wild type" GISTs.
methodsPaired tumor and normal DNA from an SDH-intact wild-type GIST case was subjected to whole exome sequencing to identify the pathogenic mechanism(s) in this tumor. Selected findings were further investigated in panels of GIST tumors through Sanger DNA sequencing, quantitative real-time PCR, and immunohistochemical approaches.
resultsA hemizygous frameshift mutation (p.His2261Leufs*4), in the neurofibromin 1 (NF1) gene was identified in the patient's GIST; however, no germline NF1 mutation was found. A somatic frameshift mutation (p.Lys54Argfs*31) in the MYC associated factor X (MAX) gene was also identified. Immunohistochemical analysis for MAX on a large panel of GISTs identified loss of MAX expression in the MAX-mutated GIST and in a subset of mainly KIT-mutated tumors.
conclusionThis study suggests that inactivating NF1 mutations outside the context of neurofibromatosis may be the oncogenic mechanism for a subset of sporadic GIST. In addition, loss of function mutation of the MAX gene was identified for the first time in GIST, and a broader role for MAX in GIST progression was suggested.
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