High-incidence of PTEN mutations in Chinese patients with primary small cell carcinoma of the esophagus.
High-incidence of PTEN mutations in Chinese patients with primary small cell carcinoma of the esophagus.
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中国原发性小细胞食管癌患者 PTEN 突变的高发率
DOI：
10.1186/1471-2407-14-19
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发表时间：
2014-01-14
期刊：
影响因子：
3.8
通讯作者：
Wang G
中科院分区：
文献类型：
--
作者：
Zhang Z;Xiao H;Xie F;Zhang H;Chen C;Xiao H;Yang Z;Wang D;Li Z;Wang G
原发性食道小细胞癌(PSCCE)是一种罕见的侵袭性肿瘤，预后不良。本研究的目的是探讨PSCCE中是否存在EGFR、KRAS、PIK3CA和PTEN突变。收集38例患者的临床病理资料和石蜡包埋标本。采用基于ARMS和Scorpion技术的实时定量聚合酶链式反应(Real-time PCR，RT-PCR)检测EGFR、KRAS和PIK3CA基因的第18~21外显子，并采用实时定量聚合酶链式反应(Real-time PCR)和高分辨熔融曲线分析(HRMA)对PTEN基因进行筛查。38例患者中仅1例(2.63%)存在L858R错义EGFR突变，所有患者的突变部位均未发现KRAS和PIK3CA。其中PTEN错义突变4例(10.53%)，外显子6突变7例(18.42%)，外显子5与外显子6同时突变2例(5.26%)，外显子8突变1例(2.63%)。并未在所有样本中检测到这些基因的同时突变。临床病理特征与PTEN基因突变状态之间无统计学意义的相关性。PTEN基因突变在中国人PSCCE患者中的发生率高于以往报道的食道癌其他组织学亚型。
Primary small cell carcinoma of the esophagus (PSCCE) is a rare and aggressive tumor with poor prognosis. The aim of this study was to investigate the existence of EGFR, KRAS, PIK3CA and PTEN mutations in PSCCE. Clinical–pathological data and paraffin-embedded specimens were collected from 38 patients. Exons 18 to 21 of EGFR, KRAS and PIK3CA status were analyzed by real-time PCR based on ARMS and Scorpion technology in all patients, and the PTEN gene was also screened using real-time PCR and high-resolution melting curve analysis (HRMA). Only 1 (2.63%) out of 38 patients had EGFR mutations in L858R missense, and KRAS and PIK3CA were not found in the mutational spot in all patients. However, PTEN mutations presented in 14 (36.84%) out of 38 patients, including exon 5 coding for PTEN missense mutation (n =4, 10.53%), exon 6 (n =7, 18.42%), concurrent exon 5 and exon 6 (n =2, 5.26%), and exon 8 (n =1, 2.63%). Concurrent mutations of these genes were not detected in all samples. No statistically significant associations were found between the clinicopathological features and the mutation status of PTEN. The incidence of PTEN mutations in Chinese patients with PSCCE was higher than that of previous reports in other histological subtypes of esophageal cancer.
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