Journal of the Formosan Medical Association
Volume 108, Issue 11 , Pages 886-893, November 2009

Identification of Somatic Mutations in the von Hippel–Lindau (VHL) Gene in a Patient With Renal Cell Carcinoma

  • Wen-Chung Wang

      Affiliations

    • Department of Obstetrics and Gynecology, Jen-Ai Hospital, Taichung, Taiwan
    • ,
  • Hui-Ju Chen

      Affiliations

    • School of Medical Laboratory and Biotechnology, Chung Shan Medical University, Taichung, Taiwan
    • ,
  • Yu-Hua Tseng

      Affiliations

    • Research Division, Joslin Diabetes Center, Department of Medicine, Harvard Medical School, Boston, USA
    • ,
  • Yen-Chein Lai

      Affiliations

    • School of Medical Laboratory and Biotechnology, Chung Shan Medical University, Taichung, Taiwan
    • Corresponding Author InformationCorrespondence to: Dr Yen-Chein Lai, School of Medical Laboratory and Biotechnology, Chung Shan Medical University, No. 110, Section 1, Chien Kuo North Road, Taichung 402, Taiwan

Received 19 December 2007; received in revised form 14 March 2008; accepted 30 April 2008.

Article Outline

One of the known causal molecular events in renal cell carcinoma is somatic mutation in the von Hippel–Lindau (VHL) gene. Our study describes a 51-year-old Taiwanese man who had bilateral renal cell carcinoma. The patient underwent radical nephrectomy without postoperative chemotherapy or radiotherapy, and is still alive after renal transplantation without tumor recurrence after > 5 years. To clarify his predisposition for bilateral tumors, we performed molecular genetic analysis of the VHL gene in this study. Polymerase chain reaction–single-strand conformation polymorphism and direct sequencing were performed on DNA of blood samples and paraffin-embedded tumor specimens from this patient. DNA from peripheral blood lymphocytes tested negative for germline mutations. However, there were two heterozygous alleles in the promoter and 3′ untranslated regions of this gene. Nonetheless, the DNA from his tumors showed loss of heterozygosity (LOH) in these two loci. In addition to the LOH, we identified some different somatic mutations in his tumor tissues: C287T and G460A in the right-sided tumor, and G244A and G390A in the left-sided tumor. The possible roles of these genetic polymorphisms and point mutations in his renal tumorigenesis are discussed. This report provides new insights into renal cell carcinoma that result from VHL gene alterations in Taiwan.

Key Words:  mutation , renal cell carcinoma , Taiwan , von Hippel-Lindau gene

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PII: S0929-6646(09)60421-6

doi:10.1016/S0929-6646(09)60421-6

Journal of the Formosan Medical Association
Volume 108, Issue 11 , Pages 886-893, November 2009

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