Molecular characterisation of gastrointestinal stromal tumours in a South African population

Show simple item record Baker, Gillian Babb, Chantal Schnugh, Desmond Nayler, Simon Melanie, Louw Goedhals, Jacqueline Bringuier, Pierre-Paul Blay, Jean-Yves Willem, Pascale 2013-12-09T07:32:56Z 2014-06-30T00:20:05Z 2013
dc.description.abstract Gastrointestinal stromal tumours (GISTs) are the most common mesenchymal tumours of the digestive tract. Pathogenesis is linked to activating mutations identified in two proto-oncogenes, v-kit Hardy/Zuckerman 4 feline sarcoma viral oncogene homologue KIT (KIT) and the platelet-derived growth factor α (PDGFRα). In addition, these mutations affect response to treatment with tyrosine kinase inhibitors. In the present study, we report on the molecular characterisation of GISTs in the South African population. Tumour DNA was extracted from 46 GIST samples, followed by cycle sequencing of KIT exons 11, 13 and 17 and PDGFRα exons 12, 14 and 18. Fragment length analysis was used to detect a 6-bp duplication in KIT exon 9. Wild-type duplications were analysed further by PCR and sequencing of additional KIT and PDGFRα exons was performed. Overall, 78.3% of the samples had a mutation in KIT or PDGFRα. Of these, mutations were detected in KIT exon 11 (88.9%), PDGFRα exon 18 (8.3%) and KIT exon 9 (2.8%). Mutations varied from simple substitutions and duplications to large deletions (some with nucleotide insertions) resulting in missense mutations. In addition, seven single nucleotide polymorphisms were detected in 17 patients, one of which appears novel. The incidence of mutations in KIT exon 11 and PDGFRα exon 18 is consistent with the literature, however, the low incidence of KIT exon 9 mutations detected was unexpected. In contrast to previous western and Asian studies, this mutation appears to be rare in the South African population. The present study contributes to the molecular understanding of GISTs in the South African population. en_US
dc.description.librarian am2013 en_US
dc.description.uri en_US
dc.identifier.citation Baker, G, Babb, C, Schnugh, D, Nayler, S, Louw, M, Goedhals, J, Bringuier, PP, Blay, JY & Willem, P 2013, 'Molecular characterisation of gastrointestinal stromal tumours in a South African population', Oncology Letters, vol. 5, no. 1, pp. 155-166. en_US
dc.identifier.issn 1792-1074 (print)
dc.identifier.issn 1792-1082 (online)
dc.identifier.other 10.3892/ol.2012.1013
dc.language.iso en en_US
dc.publisher Spandisos en_US
dc.rights © 2013 Spandidos Publications Ltd. All rights reserved en_US
dc.subject Gastrointestinal stromal tumours en_US
dc.subject KIT mutations en_US
dc.subject PDGFRα mutations en_US
dc.subject South Africa en_US
dc.title Molecular characterisation of gastrointestinal stromal tumours in a South African population en_US
dc.type Article en_US

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