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Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance
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Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance
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Journal Article
Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance
2012
Overview
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant syndrome characterized by skin piloleiomyomas, uterine leiomyomas and papillary type 2 renal cancer caused by germline mutations in the
fumarate hydratase
(
FH
) gene. Previously, we proposed renal imaging for
FH
mutation carriers starting at the age of 20 years. However, recently an 18-year-old woman from a Dutch family with HLRCC presented with metastatic renal cancer. We describe the patient and family data, evaluate current evidence on renal cancer risk and surveillance in HLRCC and consider the advantages and disadvantages of starting surveillance for renal cancer in childhood. We also discuss the targeted therapies administered to our patient.
Publisher
Springer Netherlands,Springer Nature B.V
Subject
/ Age
/ Biomedical and Life Sciences
/ Cancer
/ Carcinoma, Renal Cell - genetics
/ Carcinoma, Renal Cell - secondary
/ Carcinoma, Renal Cell - surgery
/ Children
/ Female
/ Genetic Predisposition to Disease
/ Humans
/ imaging
/ Kidney
/ Kidney Neoplasms - secondary
/ Male
/ Mutation
/ Original
/ Pedigree
/ Skin
/ Uterus
