ArticleJournal of cancer research and clinical oncology2009
Neurofibromatosis type 1-related gastrointestinal stromal tumors: a special reference to loss of heterozygosity at 14q and 22q.
Article in Journal of cancer research and clinical oncology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
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32 citing papers in PubMed, 1 synthesis or guideline pooled it, 54 citations in OpenAlex.
- Gastrointestinal stromal tumors associated with neurofibromatosis 1: a single centre experience and systematic review of the literature including 252 cases.International journal of surgical oncology · 2013Pooled it
- Duodenal ampullary neuroendocrine tumor, high risk gastrointestinal stromal tumor, and gastric leiomyoma in a patient with neurofibromatosis type 1: a rare case report and literature review.Frontiers in oncology · 2026Article
- Review
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- Periampullary duodenal neuroendocrine tumor in a patient with neurofibromatosis-1: A case report.World journal of clinical oncology · 2024Article
- Primary gastrointestinal stromal tumor of the liver: a case report.Annals of medicine and surgery (2012) · 2024Article
- Article
- Exploring Perforated Jejunal GIST: A Rare Case Report and Review of Molecular and Clinical Literature.Current issues in molecular biology · 2024Article
- Case report: detection of multiple sporadic gastrointestinal stromal tumors by dual-timeFrontiers in oncology · 2024Article
- Gastrointestinal stromal tumors of the small intestine: the challenge of diagnosis and the outcome of management.World journal of surgical oncology · 2023Article
- Molecular Mechanisms of Gastrointestinal Stromal Tumors and Their Impact on Systemic Therapy Decision.Cancers · 2023Review
- ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1.EClinicalMedicine · 2023Review
- Current Molecular Profile of Gastrointestinal Stromal Tumors and Systemic Therapeutic Implications.Cancers · 2022Review
- Mesenchymal tumours of the gastrointestinal tract.Pathologica · 2021Review
- Update on Molecular Genetics of Gastrointestinal Stromal Tumors.Diagnostics (Basel, Switzerland) · 2021Review
- Preclinical model-based evaluation of Imatinib resistance induced byAmerican journal of translational research · 2021Article
- Article
- Clinical Diagnosis of Gastrointestinal Stromal Tumor (GIST): From the Molecular Genetic Point of View.Cancers · 2019Review
- Multiple gastrointestinal stromal tumors: analysis of clinicopathologic characteristics and prognosis of 20 patients.Cancer management and research · 2019Article
- Gastrointestinal Stromal Tumors with KIT Mutation Coexisting with Wild-type Gastrointestinal Stromal Tumors in a Patient with Neurofibromatosis Type 1.Chinese medical journal · 2018Article
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeMultiple gastrointestinal stromal tumors (GISTs) rarely occur in patients with neurofibromatosis type 1 (NF-1). In contrast to sporadic GISTs characterized by frequent allelic losses of 1p, 14q and 22q and mutations of KIT or PDGFRA gene with the activation of the downstream RAS-MAPK pathway, the molecular pathogenetic mechanisms of NF-1-related GISTs (NF-1 GISTs) remain unclear.
methodsThirty-one GISTs and two foci of Cajal cell hyperplasia (CCH) were obtained from five patients with NF-1. Phospho-MAPK p44/42 expression was examined by immunohistochemical stain. KIT and PDGFRA mutations were analyzed by PCR and direct sequencing methods. Loss of heterozygosity (LOH) was analyzed by PCR-based method with microsatellite markers on 14q and 22q.
resultsImmunohistochemical expression of phospho-MAPK p44/42 was frequently found in NF-1 GISTs (23/25 cases, 92%). Neither the KIT nor PDGFRA mutation was detected in 25 NF-1 GISTs and 2 CCH. Among the informative cases, LOH was seen at 14q and 22q in 7/8 (87.5%) and 5/12 (41.7%) NF-1 GISTs, respectively. Such LOH was not detected in CCH, whereas it was detected in small GIST less than 1 cm in diameter.
conclusionsOur results support that KIT and PDGFRA mutations are very rare events in NF-1 GIST. Rather, activation of the Ras-MAPK pathway associated with the inactivation of the NF1 gene may play an important role in the cell proliferation of NF-1 GIST. Additionally, LOH at 14q and 22q may contribute to the relatively early phase of tumor development of NF-1 GIST.
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