摘要
Abstract
Objective:To investigate the mutation profiles of KIT and platelet-derived growth factor re-ceptor α(PDGFR)genes and its association with clinicopathological characteristics in gastrointestinal stro-mal tumors(GIST).Methods:Clinicopathological data of 199 GIST patients diagnosed were collected and analyzed retrospectively.Mutation status of KIT(exons 9,11,12,13,14,17 and 18)and PDGFRA(exons 12,14 and 18)genes were detected by polymerase chain reaction-directed sequencing.Association between mutation profiles and clinicopathological characteristics were statistically analyzed.Results:Among all the 199 patients,KIT mutation was found in 169 cases(84.9%)and PDGFRA mutation was detected in 11 ca-ses(5.5%),while no KIT/PDGFR mutations(WT-GIST)in 19 cases(9.5%).Two were homozygous in the cases of KIT exon 11-mutant GIST.KIT mutation rate in small intestine GIST was significantly higher than that in stomach(P =0.004).KIT mutation rate in the group of high risk and intermediate risk(NIH criteria)were significantly higher than that in ultra low risk(P =0.002,0.007),respectively.There was no significant difference in the KIT mutation rate between different gender groups ,age groups,tumor size, cell morphology,mitosis status and Ki LI.PDGFRA mutation rate in patients under 50 years old were signifi-cantly higher than that in patients over 50 years old(P =0.018).PDGFRA mutation rate in stomach GIST and colorectum GIST were significantly higher than that in small intestine(P =0.004,0.000),respective-ly.PDGFRA mutation rate in epithelioid morphology were significantly higher than that in spindle morpholo-gy(P =0.003).There was no significant difference in the PDGFRA mutation rate beween different gender groups ,tumor size,cell morphology,mitosis status,NIH criteria and Ki LI.Conclusion:KIT mutation is the main mutation of GIST.Small intestine,high risk,intermediate risk GIST had higher KIT mutation rate;patients under 50 years old,tumor sites in stomach or colorectum,having epithelioid morphology had higher PDGFRA mutation rate.关键词
胃肠道间质瘤/KIT 基因/血小板源性生长因子受体 α/临床病理特征Key words
gastrointestinal stromal tumor/KIT gene/PDGFRA gene/clinicopathological characteristics分类
医药卫生
