Mutational analysis of the von hippel lindau gene in clear cell renal carcinomas from tuberous sclerosis complex patients

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
Karen DuffyE P Henske

Abstract

Tuberous sclerosis complex (TSC) is an autosomal-dominant disorder characterized by seizures, mental retardation, autism, and tumors of multiple organs. Renal disease in TSC includes angiomyolipomas, cysts, and renal cell carcinomas. It is known that somatic mutations in the von Hippel Lindau (VHL) tumor suppressor gene occur in most clear cell renal carcinomas. To determine whether TSC-associated clear cell carcinomas also contain VHL mutations, we analyzed six tumors for loss of heterozygosity in the VHL gene region of chromosome 3p and for mutations in the VHL gene. Four of the patients were women between the ages of 34 and 68 years, and two were males under the age of 21 years. The loss of heterozygosity analysis was performed using polymorphic microsatellite markers, and the mutational analysis was performed using direct sequencing. Chromosome 3p loss of heterozygosity was not detected, and no VHL mutations were identified. These findings suggest that mutations in the TSC1 and TSC2 genes lead to clear cell renal carcinogenesis via an alternate pathway not involving VHL mutations.

References

Aug 1, 1991·Mayo Clinic Proceedings·C W ShepherdC S Crowson
Apr 1, 1991·Urology·R Washecka, M Hanna
Jan 1, 1986·The Journal of Urology·N Graves, W F Barnes
May 1, 1994·Nature Genetics·J R GnarraF M Duh
Nov 22, 1994·Proceedings of the National Academy of Sciences of the United States of America·R S YeungA G Knudson
Mar 1, 1996·International Journal of Urology : Official Journal of the Japanese Urological Association·T AoyamaT Itoh
May 1, 1996·Journal of Pediatric Surgery·F M RobertsonB H Harris
Mar 22, 1997·Lancet·B T TehD Nicol
Jan 1, 1997·International Journal of Urology : Official Journal of the Japanese Urological Association·H HidaiK Kuroko
Jul 29, 1998·International Journal of Cancer. Journal International Du Cancer·S D BosH J Mensink
Aug 26, 1998·Advances in Cancer Research·B Zbar, M Lerman
Jan 9, 1999·Journal of Child Neurology·E S RoachH Northrup
Sep 24, 1999·The Journal of Clinical Investigation·H OndaD J Kwiatkowski
Apr 12, 2000·Proceedings of the National Academy of Sciences of the United States of America·T J JónasdóttirF Lingaas
Aug 1, 2000·Human Molecular Genetics·A MilolozaM Hengstschläger
Nov 28, 2000·Japanese Journal of Cancer Research : Gann·K OkimotoO Hino
Mar 10, 2001·Experimental Cell Research·K Kondo, W G Kaelin
Mar 27, 2001·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·R E JimenezM B Amin

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Citations

Apr 28, 2005·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Elizabeth Petri Henske
Oct 31, 2006·Journal of Child and Adolescent Psychopharmacology·Shauna P ReinblattBarbara Coffey
Aug 19, 2004·The American Journal of Surgical Pathology·Elisabeth BruderHolger Moch
Mar 31, 2012·Archives of Pathology & Laboratory Medicine·Ying-Bei Chen, Satish K Tickoo
Apr 11, 2012·The Urologic Clinics of North America·Brian ShuchGennady Bratslavsky
Sep 5, 2003·The Urologic Clinics of North America·Christian P PavlovichJohn L Phillips
Aug 18, 2004·The Urologic Clinics of North America·Stephen A Zderic
Mar 23, 2010·The American Journal of Pathology·Karen BlockHanna E Abboud
Jun 25, 2010·Advances in Anatomic Pathology·Stephen M Bonsib, Ying Pei
Dec 25, 2002·Physiological Genomics·Igor DozmorovRicardo Saban
Dec 9, 2003·Pathology·Guido MartignoniFranco Bonetti

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