Identification of somatic mutations in the von Hippel-Lindau (VHL) gene in a patient with renal cell carcinoma

Journal of the Formosan Medical Association = Taiwan Yi Zhi
Wen-Chung WangYen-Chein Lai

Abstract

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 tumorigenesi...Continue Reading

References

Nov 1, 1990·The Quarterly Journal of Medicine·E R MaherM A Ferguson-Smith
Jul 19, 1989·Journal of the National Cancer Institute·K ToryF F Marshall
Jul 3, 1995·Proceedings of the National Academy of Sciences of the United States of America·D R DuanR D Klausner
Oct 11, 1994·Proceedings of the National Academy of Sciences of the United States of America·J G HermanW M Linehan
Oct 1, 1996·British Journal of Urology·E R Maher
Jul 2, 1998·Cancer Genetics and Cytogenetics·R Erlandsson
Jul 15, 1998·International Journal of Cancer. Journal International Du Cancer·E van der HarstJ W Koper
Apr 23, 2002·Journal of Surgical Oncology·Nandita BarnabasMaria J Worsham
Oct 17, 2002·Journal of the National Cancer Institute·Masahiro YaoKei-Ichi Kondo
Feb 28, 2004·Expert Reviews in Molecular Medicine·F M Richards

❮ Previous
Next ❯

Citations

Jul 17, 2014·Virchows Archiv : an International Journal of Pathology·Mariana Rezende AlvesRafael Malagoli Rocha
Oct 11, 2011·Journal of the Formosan Medical Association = Taiwan Yi Zhi·Wen-Chung WangYen-Chein Lai

❮ Previous
Next ❯

Related Concepts

Related Feeds

CZI Human Cell Atlas Seed Network

The aim of the Human Cell Atlas (HCA) is to build reference maps of all human cells in order to enhance our understanding of health and disease. The Seed Networks for the HCA project aims to bring together collaborators with different areas of expertise in order to facilitate the development of the HCA. Find the latest research from members of the HCA Seed Networks here.