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• W2055091572 abstract "<b>Background:</b> Neurofibromatosis 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 <i>KIT</i> or <i>PDGFRA</i> and are thought to arise from the interstitial cells of Cajal (ICC; the pacemaker cells of the gut). <b>Aim:</b> To characterise two patients with NF1 and GISTs. <b>Methods:</b> Two patients were genotyped for germline mutations in <i>NF1</i>. GISTs from both patients were genotyped for somatic mutations in <i>KIT</i> and <i>PDGFRA</i>. Loss of heterozygosity (LOH) of <i>NF1</i> in one GIST was assessed by genotyping seven microsatellite markers spanning 2.39 Mb of the <i>NF1</i> locus in the tumour and in genomic DNA. The known germline mutation in <i>NF1</i> was confirmed in GIST DNA by sequencing. The copy number of the mutated <i>NF1</i> allele was determined by multiplex ligand-dependent probe amplification. <b>Results:</b> GISTs from both patients were of wild type for mutations in <i>KIT</i> and <i>PDGFRA</i>. In the GIST with adequate DNA, all seven markers were informative and showed LOH at the <i>NF1</i> locus; sequencing of <i>NF1</i> 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 <i>NF1</i> exons were present. <b>Conclusions:</b> This is the first evidence of mitotic recombination resulting in a reduction to homozygosity of a germline <i>NF1</i> mutation in an NF1-associated GIST. We hypothesise that the LOH of <i>NF1</i> and lack of <i>KIT</i> and <i>PDGFRA</i> mutations are evidence of an alternative pathogenesis in NF1-associated GISTs." @default.
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• W2055091572 date "2006-07-06" @default.
• W2055091572 modified "2023-10-14" @default.
• W2055091572 title "Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1" @default.
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• W2055091572 doi "https://doi.org/10.1136/jmg.2006.043075" @default.
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