台湾口腔鳞状细胞癌患者RAS、BRAF、PIK3CA和TP53基因的联合突变分析
Combined mutational analysis of RAS, BRAF, PIK3CA, and TP53 genes in Taiwanese patients with oral squamous cell carcinoma.
作者信息
Chang Ya-Sian, Hsu Hui-Ting, Ko Ying-Chin, Yeh Kun-Tu, Chang Shun-Jen, Lin Chien-Yu, Chang Jan-Gowth
机构信息
Epigenome Research Center, China Medical University Hospital, Taichung, Taiwan; Department of Laboratory Medicine, China Medical University Hospital, Taichung, Taiwan.
Department of Pathology, Changhua Christian Hospital, Changhua, Taiwan.
出版信息
Oral Surg Oral Med Oral Pathol Oral Radiol. 2014 Jul;118(1):110-116.e1. doi: 10.1016/j.oooo.2014.03.016. Epub 2014 Apr 5.
OBJECTIVE
Many genetic factors have been implicated in the development of oral squamous cell carcinoma (OSCC). Although mutations associated with OSCC have been well documented, the rate of these mutations is known to vary by location. The goal of this study was to determine the frequency of RAS, BRAF, PIK3CA, and TP53 mutations in OSCC within the Taiwanese population.
STUDY DESIGN
A total of 79 OSCC tissue specimens were screened for the presence of RAS, BRAF, PIK3CA, and TP53 mutations.
RESULTS
Missense mutations in HRAS were found in 10 of 79 cases (12.66%), and were significantly associated with tumor grade. PIK3CA mutations were observed in 11 of 79 cases (13.92%), including a rare mutation, Q546 P, that had not previously been reported in OSCC. TP53 mutations were observed in 26 of 79 patients (32.91%) and were significantly correlated with poor survival.
CONCLUSIONS
The results suggest that HRAS, PIK3CA, and TP53 may play a role in OSCC tumorigenesis.
目的
许多遗传因素与口腔鳞状细胞癌（OSCC）的发生发展有关。尽管与OSCC相关的突变已有充分记录，但已知这些突变的发生率因部位而异。本研究的目的是确定台湾人群中OSCC中RAS、BRAF、PIK3CA和TP53突变的频率。
研究设计
共筛选了79份OSCC组织标本，检测RAS、BRAF、PIK3CA和TP53突变的存在情况。
结果
79例中有10例（12.66%）发现HRAS错义突变，且与肿瘤分级显著相关。79例中有11例（13.92%）观察到PIK3CA突变，包括一种罕见突变Q546P，此前在OSCC中尚未见报道。79例患者中有26例（32.91%）观察到TP53突变，且与不良生存显著相关。
结论
结果表明，HRAS、PIK3CA和TP53可能在OSCC肿瘤发生中起作用。
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