Gomes A L, Gouveia A, Capelinha A F, de la Cruz D, Silva P, Reis R M, Pimenta A, Lopes J M
Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal.
J Clin Pathol. 2008 Feb;61(2):203-8. doi: 10.1136/jcp.2007.047043. Epub 2007 Sep 7.
To assess KIT and PDGFRA mutations frequencies in a Portuguese series of gastrointestinal stromal tumours (GISTs).
78 GISTs were evaluated for CD117 expression and screened for mutations in KIT (exons 9, 11, 13, 14 and 17) and PDGFRA (exons 12, 14 and 18) genes.
KIT activating mutations were identified in 44 (56%) of the 78 GISTs. Forty cases (91%) presented a mutation in KIT exon 11, and 4 (9%) in exon 9. One case showed a 4 bp deletion in intron 14. PDGFRA mutations were observed in 5 cases (6%): 2 (3%) in exon 12 and 3 (4%) in exon 18. Survival analysis was performed in 63 of the 78 GISTs. The presence of mutated KIT was significantly correlated with shorter survival of patients (p = 0.0460), and inversely associated with epithelioid histological type of GISTs (p = 0.0064).
Overall, the incidence of both KIT and PDGFRA mutations in these Portuguese series was 63%, being in agreement with other studies, mainly of Iberian populations. The great majority of mutations were located in KIT exon 11, statistically associated with worse prognosis and indicative of favourable response to imatinib-based therapy in this Portuguese series of GISTs.
评估葡萄牙一系列胃肠道间质瘤（GIST）中KIT和PDGFRA基因突变频率。
对78例GIST进行CD117表达评估，并筛查KIT基因（外显子9、11、13、14和17）和PDGFRA基因（外显子12、14和18）的突变情况。
在78例GIST中，44例（56%）检测到KIT激活突变。40例（91%）存在KIT外显子11突变，4例（9%）存在外显子9突变。1例在内含子14处有4bp缺失。5例（6%）检测到PDGFRA突变：2例（3%）在外显子12，3例（4%）在外显子18。对78例GIST中的63例进行了生存分析。KIT基因突变与患者较短生存期显著相关（p = 0.0460），且与GIST的上皮样组织学类型呈负相关（p = 0.0064）。
总体而言，这些葡萄牙系列中KIT和PDGFRA基因突变的发生率为63%，与其他研究一致，主要是伊比利亚人群的研究。绝大多数突变位于KIT外显子11，在该葡萄牙系列GIST中与较差预后有统计学关联，并提示对基于伊马替尼的治疗有良好反应。
