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多发性骨髓瘤中不存在 PIK3CA 和 AKT1 基因的热点突变。

Hotspot mutations of PIK3CA and AKT1 genes are absent in multiple myeloma.

机构信息

Molecular Biology Research Lab, Department of Biochemistry, University of Jordan, Amman, Jordan.

出版信息

Leuk Res. 2010 Jun;34(6):824-6. doi: 10.1016/j.leukres.2009.11.018. Epub 2009 Dec 22.

Abstract

The phosphatidylinositol-3-kinases PI3K/AKT pathway regulates many growth and survival mechanisms in the cell, and it has been implicated in development and progression of many human cancers, including multiple myeloma. Recently, many reports have revealed that the PIK3CA gene which encodes the p110 catalytic subunit of PI3K kinase is mutated in many human malignancies. To investigate the oncogenic role of PI3K/AKT pathway in multiple myeloma we sequenced three hot exons: exons 9 and 20 of PIK3CA gene and exon 3 of AKT1 gene in 27 multiple myeloma patients. Our results indicate the absence of the four hot spot mutations E542K, E545K, H1047R and E17K in all studied cases. These findings suggest that PI3K/AKT mutations may not play a major role in multiple myeloma.

摘要

PI3K/AKT 通路调节细胞中的许多生长和存活机制,它与许多人类癌症(包括多发性骨髓瘤)的发生和发展有关。最近,许多报道表明,编码 PI3K 激酶 p110 催化亚基的 PIK3CA 基因在许多人类恶性肿瘤中发生突变。为了研究 PI3K/AKT 通路在多发性骨髓瘤中的致癌作用,我们对 27 例多发性骨髓瘤患者的 PIK3CA 基因的三个热点外显子(exon 9 和 20)和 AKT1 基因的 exon 3 进行了测序。我们的结果表明,在所研究的所有病例中均未发现四个热点突变 E542K、E545K、H1047R 和 E17K。这些发现表明,PI3K/AKT 突变可能不是多发性骨髓瘤的主要作用机制。

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