Compound HRAS/PIK3CA Mutations in Chinese Patients with Alveolar Rhabdomyosarcomas

被引：11

作者：

Liu, Chun-Xia ^{[1
,2
]}

Li, Xiao-Ying ^{[1
]}

Li, Cheng-Fang ^{[1
]}

Chen, Yun-Zhao ^{[1
]}

Cui, Xiao-Bin ^{[1
]}

Hu, Jian-Ming ^{[1
]}

Li, Feng ^{[1
,2
]}

机构：

[1] Shihezi Univ, Sch Med, Dept Pathol, Shihezi, Peoples R China

[2] Shihezi Univ, Sch Med, Affiliated Hosp 1, Dept Pathol, Shihezi, Peoples R China

来源：

ASIAN PACIFIC JOURNAL OF CANCER PREVENTION | 2014年 / 15卷 / 04期

基金：

中国国家自然科学基金;

关键词：

Rhabdomyosarcoma; massARRAY system; mutation; oncogene; HRAS/PIK3CA; EMBRYONAL RHABDOMYOSARCOMA; RAS GENES;

D O I：

10.7314/APJCP.2014.15.4.1771

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

The rhabdomyosarcoma (RMS) is the most common type of soft tissue tumor in children and adolescents; yet only a few screens for oncogenic mutations have been conducted for RMS. To identify novel mutations and potential therapeutic targets, we conducted a high-throughput Sequenom mass spectrometry-based analysis of 238 known mutations in 19 oncogenes in 17 primary formalin-fixed paraffin-embedded RMS tissue samples and two RMS cell lines. Mutations were detected in 31.6% (6 of 19) of the RMS specimens. Specifically, mutations in the NRAS gene were found in 27.3% (3 of 11) of embryonal RMS cases, while mutations in NRAS, HRAS, and PIK3CA genes were identified in 37.5% (3 of 8) of alveolar RMS (ARMS) cases; moreover, PIK3CA mutations were found in 25% (2 of 8) of ARMS specimens. The results demonstrate that tumor profiling in archival tissue samples is a useful tool for identifying diagnostic markers and potential therapeutic targets and suggests that these HRAS/PIK3CA mutations play a critical role in the genesis of RMS.

引用

页码：1771 / 1774

页数：4