ArticleJournal of medical genetics2007
Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1.
Article in Journal of medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 63 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
- Review
- Bowel intussusception and adhesive intestinal obstruction in neurofibromatosis type 1.Journal of general and family medicine · 2022Article
- Genome-wide association study of café-au-lait macule number in neurofibromatosis type 1.Molecular genetics & genomic medicine · 2020Article
- Increased breast cancer risk in women with neurofibromatosis type 1: a meta-analysis and systematic review of the literature.Hereditary cancer in clinical practice · 2019Article
- Pancreaticoduodenectomy in patients with type 1 Neurofibromatosis: Report of two cases and literature review.International journal of surgery case reports · 2016Article
- 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.BMC cancer · 2015Article
- Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1-associated glomus tumors.Genes, chromosomes & cancer · 2012Article
- Gastrointestinal manifestations of neurofibromatosis type 1 (Recklinghausen's disease): clinicopathological spectrum with pathogenetic considerations.International journal of clinical and experimental pathology · 2012Review
- Gastrointestinal stromal tumours: origin and molecular oncology.Nature reviews. Cancer · 2011Review
- Periampullary and duodenal neoplasms in neurofibromatosis type 1: two cases and an updated 20-year review of the literature yielding 76 cases.Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract · 2010Review
- Gastrointestinal and retroperitoneal manifestations of type 1 neurofibromatosis.Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract · 2010Review
- Diagnostic criteria, specific mutations, and genetic predisposition in gastrointestinal stromal tumors.The application of clinical genetics · 2010Article
- A quantitative assessment of the burden and distribution of Lisch nodules in adults with neurofibromatosis type 1.Investigative ophthalmology & visual science · 2009Article
- c-KIT positive Gastrointestinal Stromal Tumor presenting with acute bleeding in a patient with neurofibromatosis type 1: a case report.International seminars in surgical oncology : ISSO · 2009Article
- Association between polymorphisms in RMI1, TOP3A, and BLM and risk of cancer, a case-control study.BMC cancer · 2009Article
- Large-scale evaluation of candidate genes identifies associations between DNA repair and genomic maintenance and development of benzene hematotoxicity.Carcinogenesis · 2009Article
- Review
- Gastrointestinal bleeding and cutaneous nodules.Proceedings (Baylor University. Medical Center) · 2008Article
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 1 country.
Funding
Abstract
backgroundNeurofibromatosis type 1 (NF1) is a neurocutaneous disorder resulting in the growth of a variety of tumours, and is inherited in an autosomal dominant pattern. Gastrointestinal stromal tumours (GISTs) are mesenchymal tumours that commonly harbour oncogenic mutations in KIT or PDGFRA and are thought to arise from the interstitial cells of Cajal (ICC; the pacemaker cells of the gut).
aimTo characterise two patients with NF1 and GISTs.
methodsTwo patients were genotyped for germline mutations in NF1. GISTs from both patients were genotyped for somatic mutations in KIT and PDGFRA. Loss of heterozygosity (LOH) of NF1 in one GIST was assessed by genotyping seven microsatellite markers spanning 2.39 Mb of the NF1 locus in the tumour and in genomic DNA. The known germline mutation in NF1 was confirmed in GIST DNA by sequencing. The copy number of the mutated NF1 allele was determined by multiplex ligand-dependent probe amplification.
resultsGISTs from both patients were of wild type for mutations in KIT and PDGFRA. In the GIST with adequate DNA, all seven markers were informative and showed LOH at the NF1 locus; sequencing of NF1 from that GIST showed no wild-type sequence, suggesting that it was lost in the tumour. Multiplex ligand-dependent probe amplification analysis showed that two copies of all NF1 exons were present.
conclusionsThis is the first evidence of mitotic recombination resulting in a reduction to homozygosity of a germline NF1 mutation in an NF1-associated GIST. We hypothesise that the LOH of NF1 and lack of KIT and PDGFRA mutations are evidence of an alternative pathogenesis in NF1-associated GISTs.
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Registered trials
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