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).

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 focus on clear cell RCC. The majority of the tumour samples were fixed either in formalin or Bouin's solutions. 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.

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.

This study does not confirm the association between the number and type of VHL gene mutations and exposure to TCE previously described.

Written by
Charbotel B, Gad S, Caiola D, Beroud C, Fevotte J, Bergeret A, Ferlicot S, Richard S.

Reference
J Occup Med Toxicol. 2007 Nov 12;2(1):13 [Epub ahead of print]
doi:10.1186/1745-6673-2-13

PubMed Abstract
PMID:17997830

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