title: Spectrum of mutations in gastrointestinal stromal tumor patients - a population-based study from Slovakia.
abstract: Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of gastrointestinal tract and are characterized by presence of mutations in tyrosine kinases cKIT (KIT) and PDGFRα (PDGFRA). Mutations identified are highly heterogeneous, but some mutations are associated with specific clinical features of the tumor. Samples from 278 GIST patients collected during the period 2004-2011 were screened for mutations in exons 9, 11, 13, and 17 of KIT and 12, 14 and 18 of PDGFRA. Results of mutation screening were summarized and tested for possible association with clinical parameters of tumors. Mutations were identified in 83.81% of patients. Most frequent mutations were found in KIT exon 11 reaching frequency of 62.95%. Other exons contributed to the mutation pool with frequencies 8.27%, 7.55%, 2.52%, 1.44%, 1.08%, and 0.00%, in decreasing order KIT exon 9, PDGRFA exons 18 and 12, KIT exon 13, PDGFRA exon 14, and KIT exon 17. General linear model analysis showed no effect of any individual analyzed mutation on the phenotypic variables, but we confirmed association between mutations KIT exon 9 p. 503-504_dup2, and PDGFRA exon 18 p. D842V and intestinal and gastric localization of tumors.
authors.affiliation: Faculty of Medicine, Institute of Molecular Biomedicine, Comenius University in Bratislava, Bratislava, Slovakia. gabriel.minarik@gmail.com
authors.forename: Gabriel
authors.initials: G
authors.lastname: Minárik
authors.forename: Lukáš
authors.initials: L
authors.lastname: Plank
authors.forename: Zora
authors.initials: Z
authors.lastname: Lasabová
authors.forename: Tomáš
authors.initials: T
authors.lastname: Szemes
authors.forename: Tatiana
authors.initials: T
authors.lastname: Burjanivová
authors.forename: Peter
authors.initials: P
authors.lastname: Szépe
authors.forename: Veronika
authors.initials: V
authors.lastname: Buzalková
authors.forename: David
authors.initials: D
authors.lastname: Porubský
authors.forename: Jozef
authors.initials: J
authors.lastname: Sufliarsky
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D055088:Early Detection of Cancer; D005091:Exons; D005260:Female; D046152:Gastrointestinal Stromal Tumors / Q000453:epidemiology / Q000235:genetics*; D056726:Genetic Association Studies; D006801:Humans; D016014:Linear Models; D008297:Male; D008875:Middle Aged; D008940:Mitotic Index; D009154:Mutation; D059645:Mutation Rate; D009362:Neoplasm Metastasis / Q000235:genetics; D010641:Phenotype; D015995:Prevalence; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D020796:Receptor, Platelet-Derived Growth Factor alpha / Q000235:genetics*; D018154:Slovakia / Q000453:epidemiology; D055815:Young Adult
chemical_list: D019009:Proto-Oncogene Proteins c-kit; D020796:Receptor, Platelet-Derived Growth Factor alpha