Frequent mutations and amplifications of the PIK3CA gene in pituitary tumors
Frequent mutations and amplifications of the PIK3CA gene in pituitary tumors
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DOI：
10.1677/erc-08-0167
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发表时间：
2009-03-01
影响因子：
3.9
通讯作者：
Lu, Yuan
中科院分区：
文献类型：
--
作者：
Lin, Yong;Jiang, Xiaofei;Lu, Yuan
磷酸肌醇3-激酶（PI 3 K）/AKT通路的PIK 3CA基因的遗传改变已在许多人类肿瘤中发现，但尚未在垂体肿瘤中探索。我们进行了本研究，以探讨突变和扩增的PIK 3CA基因在垂体瘤。方法采用DNA测序和实时荧光定量PCR技术检测353例垂体瘤组织中PIK 3CA基因的突变和扩增情况，并采用RT-PCR法检测PIK 3CA基因的表达。在侵袭性和非侵袭性肿瘤中，发现91例侵袭性垂体肿瘤中约8例（9%）与262例非侵袭性肿瘤中0例（0%）在PIK 3CA基因的外显子9和20中存在体细胞突变（P= 4拷贝），在各种类型的垂体肿瘤中的患病率约为20-40%。在具有高PIK 3CA拷贝数的病例中观察到PIK 3CA蛋白过表达。还检查了RAS突变，并在91例浸润性肿瘤中的6例（7%）中发现。PIK 3CA扩增与PIK 3CA或RAS突变相互排斥（P
Genetic alterations in the PIK3CA gene of the phosphoinositide 3-kinase (PI3K)/AKT pathway have been found in many human tumors, but they have not been explored in pituitary tumors. We undertook the present study to explore mutations and amplifications of the PIK3CA gene in pituitary tumors. DNA sequencing and real-time quantitative PCR were used to examine mutations and amplifications respectively, on genomic DNA samples isolated from 353 cases of pituitary tumors, and immunohistostaining was used to assess PIK3CA expression. About 8 out of 91 (9%) invasive pituitary tumors versus 0 out of 262 (0%) noninvasive tumors were found to harbor somatic mutations in exons 9 and 20 of the PIK3CA gene (P= 4 copies) were observed in both invasive and noninvasive tumors, with a prevalence of around 20-40% in various types of pituitary tumors. PIK3CA protein overexpression was observed in cases with high PIK3CA copy number. RAS mutations were also examined and found in 6 out of the 91 (7%) invasive tumors. PIK3CA amplifications were mutually exclusive with PIK3CA or RAS mutations (P