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01-06-2010

Hereditary leiomyomatosis and renal cell carcinoma: very early diagnosis of renal cancer in a paediatric patient

Authors: Ismail Alrashdi, Samantha Levine, Joan Paterson, Rohit Saxena, Soonie R. Patel, Sarita Depani, Darren R. Hargrave, Kathy Pritchard-Jones, Shirley V. Hodgson

Published in: Familial Cancer | Issue 2/2010

Abstract

Hereditary leiomyomatosis and renal cell cancer is a hereditary cancer syndrome in which affected individuals are at risk for cutaneous and uterine leiomyomas, and renal cancer. Previous reports have stressed the aggressiveness of the renal tumours, often with early metastasis, despite small primary tumour size. Almost all the previously reported patients were adults, and different studies showed variability in penetrance for the renal tumours. We report a patient in whom renal cancer was detected at the age of 11 years at his first routine screening imaging after he was found to carry a fumarate hydratase gene mutation (c.1189G > A) transmitted from his mother. This report serves to emphasize the need to improve guidelines for screening of at risk individuals, including the necessity for predictive genetic testing and early institution of tumour surveillance in childhood.

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Title: Hereditary leiomyomatosis and renal cell carcinoma: very early diagnosis of renal cancer in a paediatric patient
Authors: Ismail Alrashdi
Samantha Levine
Joan Paterson
Rohit Saxena
Soonie R. Patel
Sarita Depani
Darren R. Hargrave
Kathy Pritchard-Jones
Shirley V. Hodgson
Publication date: 01-06-2010
Publisher: Springer Netherlands
Published in: Familial Cancer / Issue 2/2010
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-009-9306-0

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