Clinical Case Database / Category: Patient Management

Tuberous sclerosis associated renal cell carcinoma

Publication details

Miss Gemma McKenzie, Professor Marek Miller, FRCS
Foundation Years Journal, volume 8, issue 10, p.42 (123Doc Education, London, November 2014)

Abstract

We present an interesting case of a 20 year old male with Tuberous Sclerosis, a rare autosomal dominant condition characterised by multi-organ hamartomas. This condition is expressed with huge variability across patients, with multiple extra-hamartomatous manifestations including; seizures, learning difficulties, behavioural problems, skin conditions and other multi-organ complications. In addition to the well-documented hamartomas, these patients can present with malignant tumours and here we discuss the unfortunate case of a 20 year old male with an incidental finding of a 65mm renal cell carcinoma picked up on routine Computed Tomography (CT) imaging.

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Authors

Miss Gemma McKenzie (Corresponding author)

Urology SpR Northampton Hospital, 6 Grove Works,
72 Clare Street, Northampton, NN1 3LS
g.mckenzie@doctors.org.uk

Professor Marek Miller, FRCS

Consultant Urologist, 6 Grove Works,
72 Clare Street, Northampton, NN1 3LS
marek.miller@ngh.nhs.uk

References

1. Choyke PL, Glenn GM, Walther MM, Zbar B, Linehan WM: Hereditary renal cancers. Radiology 2003, 226(1):33-46
2. Curatolo P, Bombardieri R, Jozwiak S: Tuberous Sclerosis. Lancet 2008, 372(9639):657-68
3. Dabora SL, Jozwiak S, Franz DN, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet. 2001, 68(1):64-80
4. Sancak O, Nellist M, Goedbloed M, et al. Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype-phenotype correlations and comparison of diagnostic DNA techniques in tuberous sclerosis complex. Eur J Hum Genet. 2005, 13(6):731-41
5. Yang P, Cornejo KM, Sadow PM, Cheng L, et al. Renal Cell carcinoma in Tuberous Sclerosis Complex. Am J Surg Pathol. 2014, 38(7):895-909
6. Cook JA, Oliver K, Mueller RF et al. A cross sectional study of renal involvement in Tuberous Sclerosis. J Med Genet. 1996, 33:480-84
7. O'Callaghan FJ, Noakes MJ, Martyn CN et al. An epidemiological study of renal pathology in tuberous sclerosis complex. BJU Int. 2004, 94:853-57
8. Rakowski SK, Winterkorn EB, Paul E et al. Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors. Kidney Int. 2006, 70(10):1777-82
9. Allison JW, James CA, Figarola MS. Pediatric case of the day. Renal cell carcinoma in a child with tuberous sclerosis. Radiographics. 1999, 19:1388-89

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About the Clinical Cases Database

T​he Foundation Years Clinical Cases Database is​ a selection of 600 peer-reviewed clinical cases in the field of patient safety and clinical practice, specifically focused on the clinical information needs of junior doctors, based around the Foundation Year Curriculum programme (MMC). The cases have been chosen to align with the Foundation Year Curriculum.

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