Trichloroethylene exposure and somatic mutations of the VHL gene in patients with Renal Cell Carcinoma.
Trichloroethylene exposure and somatic mutations of the VHL gene in patients with Renal Cell Carcinoma.
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DOI：
10.1186/1745-6673-2-13
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发表时间：
2007-11-12
期刊：
影响因子：
--
通讯作者：
Richard, Stephane
中科院分区：
文献类型：
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作者：
Charbotel, Barbara;Gad, Sophie;Richard, Stephane
背景技术背景：我们调查了暴露于三氯乙烯（TCE）和冯希佩尔-林道（VHL）基因突变和随后的肾细胞癌（RCC）的风险之间的关联。方法：病例是从先前在法国进行的病例对照研究中招募的，该研究表明暴露于高水平的TCE和RCC风险增加之间的关联。从87例肾细胞癌的流行病学研究，69例被纳入本研究。所有样本均由病理学家进行评估，以确定组织学亚型，然后能够专注于透明细胞RCC。大多数肿瘤样本固定在福尔马林或布因溶液中。大多数肿瘤为透明细胞RCC亚型（48例，包括2例囊性RCC）。对3个VHL编码外显子进行突变筛选。进行了描述性分析，比较暴露和非暴露的情况下，透明细胞肾细胞癌的突变患病率在两个group.RESULTS：在48例肾细胞癌，4 VHL突变检测：外显子1内（c.332G>A，p.Ser111Asn），在外显子2剪接位点（c.463+1G>C和c.463+ 2 T>C）和外显子3内（c.506T>C，p.Leu169Pro）。在暴露组与未暴露组中未观察到突变频率的差异：透明细胞肾细胞癌中25例有TCE接触史，23例无TCE职业接触史。两名患者的突变被确定在each group.CONCLUSION：本研究并没有证实VHL基因突变的数量和类型之间的关联，并暴露于TCE先前描述。
BACKGROUND: We investigated the association between exposure to trichloroethylene (TCE) and mutations in the von Hippel-Lindau (VHL) gene and the subsequent risk for renal cell carcinoma (RCC).METHODS: Cases were recruited from a case-control study previously carried out in France that suggested an association between exposures to high levels of TCE and increased risk of RCC. From 87 cases of RCC recruited for the epidemiological study, 69 were included in the present study. All samples were evaluated by a pathologist in order to identify the histological subtype and then be able to focus on clear cell RCC. The majority of the tumour samples were fixed either in formalin or Bouin's solutions. The majority of the tumours were of the clear cell RCC subtype (48 including 2 cystic RCC). Mutation screening of the 3 VHL coding exons was carried out. A descriptive analysis was performed to compare exposed and non exposed cases of clear cell RCC in terms of prevalence of mutations in both groups.RESULTS: In the 48 cases of RCC, four VHL mutations were detected: within exon 1 (c.332G>A, p.Ser111Asn), at the exon 2 splice site (c.463+1G>C and c.463+2T>C) and within exon 3 (c.506T>C, p.Leu169Pro).No difference was observed regarding the frequency of mutations in exposed versus unexposed groups: among the clear cell RCC, 25 had been exposed to TCE and 23 had no history of occupational exposure to TCE. Two patients with a mutation were identified in each group.CONCLUSION: This study does not confirm the association between the number and type of VHL gene mutations and exposure to TCE previously described.