1.A unique pair of monozygotic twins with concordant clear cell renal cell carcinoma: a case report.
Min Han TAN ; Jasmine YANG ; Hwei Ling TAN ; Chin Fong WONG ; Puay Hoon TAN ; Hong Gee SIM ; Peter ANG ; Chee Keong TOH ; Miah Hiang TAY ; Eileen POON ; Aik Seng OOI ; Bin Tean TEH
Annals of the Academy of Medicine, Singapore 2010;39(1):61-63
INTRODUCTIONGenetic predisposition to clear cell renal cell carcinoma (ccRCC) has been linked to disorders such as von Hippel-Lindau (VHL) syndrome. While twin research is a classic approach for elucidating genetic and environmental contributions to disease, no monozygotic twin-pair concordant for ccRCC in the absence of VHL syndrome has been previously reported in the literature or in major twin registries.
CLINICAL PICTUREWe describe a unique monozygotic twin-pair concordant for ccRCC, with discordant but early ages of onset of 25 and 38 respectively. Cytogenetic studies and direct sequencing for VHL gene mutations in the second twin proved unremarkable.
CONCLUSIONSThis is the fi rst reported case of monozygotic twins concordant for ccRCC in the absence of VHL gene mutation. The early yet discordant, age of onset of disease in both twins suggests both genetic and environmental contributions to ccRCC.
Adult ; Carcinoma, Renal Cell ; genetics ; pathology ; Diseases in Twins ; genetics ; pathology ; Humans ; Kidney Neoplasms ; genetics ; pathology ; Male ; Twins, Monozygotic ; von Hippel-Lindau Disease ; genetics
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