title: Hereditary leiomyomatosis and renal cell carcinoma: very early diagnosis of renal cancer in a paediatric patient.
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.
authors.affiliation: Department of Medical Genetics, St George's Hospital Medical School, Cranmer Terrace, SW17 0RE, London, UK.
authors.forename: Ismail
authors.initials: I
authors.lastname: Alrashdi
authors.forename: Samantha
authors.initials: S
authors.lastname: Levine
authors.forename: Joan
authors.initials: J
authors.lastname: Paterson
authors.forename: Rohit
authors.initials: R
authors.lastname: Saxena
authors.forename: Soonie R
authors.initials: SR
authors.lastname: Patel
authors.forename: Sarita
authors.initials: S
authors.lastname: Depani
authors.forename: Darren R
authors.initials: DR
authors.lastname: Hargrave
authors.forename: Kathy
authors.initials: K
authors.lastname: Pritchard-Jones
authors.forename: Shirley V
authors.initials: SV
authors.lastname: Hodgson
mesh_terms: D002291:Carcinoma, Papillary / Q000209:etiology; D002292:Carcinoma, Renal Cell / Q000150:complications* / Q000235:genetics; D002648:Child; D042241:Early Diagnosis; D005260:Female; D005817:Genetic Counseling / Q000523:psychology; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D006801:Humans; D007680:Kidney Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D007889:Leiomyoma / Q000209:etiology*; D018231:Leiomyomatosis / Q000150:complications* / Q000235:genetics; D008297:Male; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics / Q000503:physiopathology*; D010375:Pedigree; D014594:Uterine Neoplasms / Q000235:genetics / Q000503:physiopathology