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
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.
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收藏
页码:1771 / 1774
页数:4
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