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

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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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Abbreviations

CT:

Computerized tomography

FH:

Fumarate hydratase

HLRCC:

Hereditary leiomyomatosis and renal cell carcinoma

MRI:

Magnetic resonance image

RCC:

Renal cell carcinoma

VHL:

Von Hippel Lindau disease

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Acknowledgments

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

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Authors and Affiliations

  1. Department of Medical Genetics, St George’s Hospital Medical School, Cranmer Terrace, SW17 0RE, London, UK

    Ismail Alrashdi & Shirley V. Hodgson

  2. Department of Cellular Pathology, St George’s Healthcare Trust, London, UK

    Samantha Levine

  3. Medical Genetics, Addenbrooke’s Treatment Centre, Addenbrooke’s Hospital, Cambridge, UK

    Joan Paterson

  4. Department of Paediatrics, Mayday University Hospital, Croydon, UK

    Rohit Saxena & Soonie R. Patel

  5. Paediatric Oncology Unit, Royal Marsden Hospital, Sutton, UK

    Sarita Depani, Darren R. Hargrave & Kathy Pritchard-Jones

Authors
  1. Ismail Alrashdi
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  2. Samantha Levine
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  3. Joan Paterson
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  4. Rohit Saxena
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  5. Soonie R. Patel
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  6. Sarita Depani
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  7. Darren R. Hargrave
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  8. Kathy Pritchard-Jones
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  9. Shirley V. Hodgson
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Correspondence to Shirley V. Hodgson.

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Alrashdi, I., Levine, S., Paterson, J. et al. Hereditary leiomyomatosis and renal cell carcinoma: very early diagnosis of renal cancer in a paediatric patient. Familial Cancer 9, 239–243 (2010). https://doi.org/10.1007/s10689-009-9306-0

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  • DOI: https://doi.org/10.1007/s10689-009-9306-0

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