Suppr超能文献

乳腺癌中PI3K/AKT信号通路基因的突变支持了它们作为乳腺癌侵袭性生物标志物的潜在重要性。

Mutation of genes of the PI3K/AKT pathway in breast cancer supports their potential importance as biomarker for breast cancer aggressiveness.

作者信息

Tserga Aggeliki, Chatziandreou Ilenia, Michalopoulos Nicolaos V, Patsouris Efstratios, Saetta Angelica A

机构信息

First Department of Pathology, "Laikon" General Hospital, Medical School, National and Kapodistrian University of Athens, Mikras Assias 75, Goudi, 11527, Athens, Greece.

First Propaedeutic Department of Surgery, Hippocration University Hospital, University of Athens, Athens, Greece.

出版信息

Virchows Arch. 2016 Jul;469(1):35-43. doi: 10.1007/s00428-016-1938-5. Epub 2016 Apr 8.

Abstract

Deregulation of phosphatidylinositol 3-kinase (PI3K)/AKT signaling pathway is closely associated with cancer development and cancer progression. PIK3CA, AKT1, and PTEN are the fundamental molecules of the PI3K/AKT pathway with increased mutation rates in cancer cases leading to aberrant regulation of the pathway. Even though molecular alterations of the PI3K/AKT pathway have been studied in breast cancer, correlations between specific molecular alterations and clinicopathological features remain contradictory. In this study, we examined mutations of the PI3K/AKT pathway in 75 breast carcinomas using high-resolution melting analysis and pyrosequencing, in parallel with analysis of relative expression of PIK3CA and AKT2 genes. Mutations of PIK3CA were found in our cohort in 21 cases (28 %), 10 (13 %) in exon 9 and 11(15 %) in exon 20. Mutation frequency of AKT1 and PTEN genes was 4 and 3 %, respectively. Overall, alterations in the PI3K/AKT signaling cascade were detected in 35 % of the cases. Furthermore, comparison of 50 breast carcinomas with adjacent normal tissues showed elevated PIK3CA messenger RNA (mRNA) levels in 18 % of tumor cases and elevated AKT2 mRNA levels in 14 %. Our findings, along with those of previous studies, underline the importance of the PI3K/AKT pathway components as potential biomarkers for breast carcinogenesis.

摘要

磷脂酰肌醇3-激酶(PI3K)/AKT信号通路的失调与癌症的发生和发展密切相关。PIK3CA、AKT1和PTEN是PI3K/AKT通路的关键分子,在癌症病例中突变率增加,导致该通路的异常调节。尽管已经对乳腺癌中PI3K/AKT通路的分子改变进行了研究,但特定分子改变与临床病理特征之间的相关性仍然存在矛盾。在本研究中,我们使用高分辨率熔解分析和焦磷酸测序检测了75例乳腺癌中PI3K/AKT通路的突变,并同时分析了PIK3CA和AKT2基因的相对表达。在我们的队列中,21例(28%)发现了PIK3CA突变,其中9号外显子有10例(13%),20号外显子有11例(15%)。AKT1和PTEN基因的突变频率分别为4%和3%。总体而言,35%的病例检测到PI3K/AKT信号级联的改变。此外,对50例乳腺癌及其相邻正常组织的比较显示,18%的肿瘤病例中PIK3CA信使核糖核酸(mRNA)水平升高,14%的病例中AKT2 mRNA水平升高。我们的研究结果与先前的研究结果共同强调了PI3K/AKT通路成分作为乳腺癌发生潜在生物标志物的重要性。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验