Compound HRAS/PIK3CA Mutations in Chinese Patients with Alveolar Rhabdomyosarcomas
Compound HRAS/PIK3CA Mutations in Chinese Patients with Alveolar Rhabdomyosarcomas
复制标题
中国肺泡型横纹肌肉瘤患者的复合 HRAS/PIK3CA 突变
DOI：
10.7314/apjcp.2014.15.4.1771
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发表时间：
2014-01-01
影响因子：
--
通讯作者：
Li, Feng
中科院分区：
文献类型：
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作者：
Liu, Chun-Xia;Li, Xiao-Ying;Li, Feng
横纹肌肉瘤(RMS)是儿童和青少年中最常见的软组织肿瘤类型；然而，仅对RMS进行了少数致癌突变的筛查。为了确定新的突变和潜在的治疗靶点，我们对17个福尔马林固定的石蜡包埋的RMS组织样本和两个RMS细胞系的19个癌基因的238个已知突变进行了基于高通量Sequenom MS的分析。31.6%(6/19)的RMS标本发生突变。NRAS基因突变发生率为27.3%(3/11)，NRAS、HRAS和PIK3CA基因突变发生率为37.5%(3/8)，PIK3CA基因突变发生率为25%(2/8)。结果表明，档案组织标本中的肿瘤特征是确定诊断标记和潜在治疗靶点的有用工具，并提示这些HRAS/PIK3CA突变在RMS的发生中发挥关键作用。
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.