AKT1 E17 K pleckstrin homology domain mutation in urothelial carcinoma
AKT1 E17 K pleckstrin homology domain mutation in urothelial carcinoma
复制标题
DOI：
10.1016/j.cancergencyto.2009.01.009
复制
发表时间：
2009-05-01
影响因子：
--
通讯作者：
Rechavi, Gideon
中科院分区：
文献类型：
--
作者：
Zilberman, Dorit E.;Cohen, Yoram;Rechavi, Gideon
PI3 K/AKT 通路在人类癌症中经常被激活。最近，在 AKT1 的 pleckstrin 同源结构域中发现了 G 到 A 点突变（E17 K）。我们的目的是探索尿路上皮癌病例中的这种突变。使用基于芯片的基质辅助激光解吸飞行时间 (MALDI-TOF) 质谱仪，在从 26 名已知患有尿路上皮癌的患者获得的 26 个总 RNA 样本中搜索了 AKT1 E17 K 突变。 26 名患者中就有 1 名 (3.8%) 发现了突变——一名 46 岁女性，患有位于固有层的低度移行细胞癌（Ta 病）。我们的发现与之前的研究一致，表明 AKT1 E17 K 突变很少见。然而，还需要进一步的研究来确定这种突变是否确实与侵袭性较低的疾病有关并具有更好的预后。 (C) 2009 Elsevier Inc. 保留所有权利。
The PI3 K/AKT pathway is frequently activated in human cancer. Recently, a G to A point mutation (E17 K) was found in the pleckstrin homology domain of AKT1. We aimed to explore this mutation in cases of urothelial carcinoma. Using chip-based matrix-assisted laser desorption-time-of-flight (MALDI-TOF) mass spectrometer, AKT1 E17 K mutation was searched in 26 total RNA samples obtained from 26 patients known to have urothelial carcinoma. Mutation was found in one out of 26 (3.8%) patients - a 46 year old female with a low grade transitional cell carcinoma located to the lamina propria (Ta disease). Our finding is in line with previous studies showing AKT1 E17 K mutation to be rare. Yet, further studies are required to determine whether this mutation is indeed related to less aggressive disease and carries better prognosis. (C) 2009 Elsevier Inc. All rights reserved.