The location of KIT and PDGFRA gene mutations in gastrointestinal stromal tumours is site and phenotype associated

摘要: Aims: To assess the relation between KIT and PDGFRA mutations site of origin, histological phenotype, pathomorphologically determined risk assessment in gastrointestinal stromal tumours (GISTs). Methods: A series 83 clinicopathologically characterised GISTs from 79 patients was analysed for by polymerase chain reaction amplification, single strand conformation polymorphism analysis, direct DNA sequencing. Results: or were found 57 11 GISTs, respectively. Most involved exon (46 cases), followed 9 (10 cases). The mostly affected 18 (eight 12 (three There a significant association an intestinal origin gastric tumours. In addition, presence significantly associated with epithelioid/mixed histology, as absence identified receptor tyrosine kinase mutations. Vice versa, almost exclusively spindle cell GISTs. Furthermore, any alone high risk/malignant Conclusions: location is phenotype. Genotyping may be helpful additional parameter determining biological profile these