Pkd-Tsc Syndrome and Renal Cell Carcinoma: A Case ReportPirola GM*, Saredi G, Pacchetti A and Marconi AM
Urology Division, Ospedale di Circolo e Fondazione Macchi, Varese, Italy
- *Corresponding Author:
- Pirola GM
Mayo Clinic, Urology Division
Ospedale di Circolo e Fondazione Macchi, Varese, Italy
E-mail: [email protected]
Received date: March 18, 2014; Accepted date: April 17, 2014; Published date: April 19, 2014
Citation: Pirola GM, Saredi G, Pacchetti A, Marconi AM (2014) Pkd-Tsc Syndrome and Renal Cell Carcinoma: A Case Report. J Clin Exp Pathol 4:170. doi:10.4172/2161-0681.1000170
Copyright: © 2014 Pirola GM, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Introduction: In this work we report a clinical case of PKD-TSC syndrome, with a review of current literature.
Case report: In August 2013 we admitted in our clinic a patient with an history of Tuberous Sclerosis Complex (TSC) who had a CT finding of right renal tumor in a kidney with multiple cists. After performing a right radical nephrectomy, a genetic investigation assessed that the patient was affected by “PKD-TSC syndrome”, with a deletion on chromosome 16p 13.3.
Discussion: Genomic findings demonstrated that PKD-TSC syndrome is due to large deletions in chromosome 16 that results in deletion of part or all of both the TSC2 and the PKD1 gene, giving both aspects of Polycystic Kidney Disease and Tuberous Sclerosis Syndrome.
Conclusion: Our report is emblematic of this rare disease that has a genetic pathogenesis that needs further studies to be totally understood.