Hereditary leiomyomatosis and renal cell carcinoma: very early diagnosis of renal cancer in a paediatric patient.
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.
Alrashdi
Ismail
I
Department of Medical Genetics, St George's Hospital Medical School, Cranmer Terrace, SW17 0RE, London, UK.
Levine
Samantha
S
Paterson
Joan
J
Saxena
Rohit
R
Patel
Soonie R
SR
Depani
Sarita
S
Hargrave
Darren R
DR
Pritchard-Jones
Kathy
K
Hodgson
Shirley V
SV
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