A unique pair of monozygotic twins with concordant clear cell renal cell carcinoma: a case report
Annals of the Academy of Medicine, Singapore
;
: 61-63, 2010.
Artículo
en Inglés
| WPRIM
| ID: wpr-253630
ABSTRACT
<p><b>INTRODUCTION</b>Genetic 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.</p><p><b>CLINICAL PICTURE</b>We 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.</p><p><b>CONCLUSIONS</b>This 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.</p>
Texto completo:
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Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Patología
/
Gemelos Monocigóticos
/
Carcinoma de Células Renales
/
Enfermedades en Gemelos
/
Genética
/
Enfermedad de von Hippel-Lindau
/
Neoplasias Renales
Límite:
Adulto
/
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Annals of the Academy of Medicine, Singapore
Año:
2010
Tipo del documento:
Artículo
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