Familial Cancer

, Volume 9, Issue 2, pp 239–243 | Cite as

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

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


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.


Papillary type 2 renal cell carcinoma Fumarate hydratase Cutaneous leiomyomatosis Uterine leiomyomatosis Hereditary leiomyomatosis HLRCC 



Computerized tomography


Fumarate hydratase


Hereditary leiomyomatosis and renal cell carcinoma


Magnetic resonance image


Renal cell carcinoma


Von Hippel Lindau disease



The authors are grateful to the family for permission to publish this information.


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Copyright information

© Springer Science+Business Media B.V. 2009

Authors and Affiliations

  • Ismail Alrashdi
    • 1
  • Samantha Levine
    • 2
  • Joan Paterson
    • 3
  • Rohit Saxena
    • 4
  • Soonie R. Patel
    • 4
  • Sarita Depani
    • 5
  • Darren R. Hargrave
    • 5
  • Kathy Pritchard-Jones
    • 5
  • Shirley V. Hodgson
    • 1
  1. 1.Department of Medical GeneticsSt George’s Hospital Medical SchoolLondonUK
  2. 2.Department of Cellular PathologySt George’s Healthcare TrustLondonUK
  3. 3.Medical Genetics, Addenbrooke’s Treatment CentreAddenbrooke’s HospitalCambridgeUK
  4. 4.Department of PaediatricsMayday University HospitalCroydonUK
  5. 5.Paediatric Oncology UnitRoyal Marsden HospitalSuttonUK

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