Jornal de Patologia Clínica e Experimental

Abstrato

Pkd-Tsc Syndrome and Renal Cell Carcinoma: A Case Report

Pirola GM, Saredi G, Pacchetti A and Marconi AM

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.