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Muir–Torre syndrome in a haemodialysis patient

Muir–Torre syndrome (MTS) is a rare inherited cancer syndrome with variable penetrance. MTS follows an autosomal-dominant pattern of inheritance, and is a subtype of Lynch syndrome [formally known as hereditary non-polyposis colorectal cancer (HNPCC)]. MTS is caused by mutations in one of several mi...

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Detalles Bibliográficos
Autores principales: Godfrey, Evonne D., Coward, Robert A., Gharpuray-Pandit, Deepa, Lalloo, Fiona, McKirdy, Stuart, Woywodt, Alexander
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898341/
https://www.ncbi.nlm.nih.gov/pubmed/27293570
http://dx.doi.org/10.1093/ckj/sft068
Descripción
Sumario:Muir–Torre syndrome (MTS) is a rare inherited cancer syndrome with variable penetrance. MTS follows an autosomal-dominant pattern of inheritance, and is a subtype of Lynch syndrome [formally known as hereditary non-polyposis colorectal cancer (HNPCC)]. MTS is caused by mutations in one of several mismatch repair genes. Patients typically present with sebaceous neoplasms (sebaceous adenoma, sebaceous epithelioma, or sebaceous carcinoma) or with multiple keratoacanthomas. These patients also have an increased lifetime risk of visceral malignancies, typically affecting the colon, ovary, endometrium, genitourinary tract and small bowel. We describe a case of MTS in a haemodialysis patient and implications for transplant listing.