Invasive High-Grade Upper Tract Urothelial Carcinoma in a 14 Year-Old Girl
We present an unusual pediatric case of invasive upper tract urothelial carcinoma with an associated genetic predisposition. A 14 year-old female presented with intermittent right flank pain, and was found to have a poorly functioning hydronephrotic right kidney. Laparoscopic nephrectomy was performed. Pathology demonstrated upper tract urothelial carcinoma, and she subsequently underwent completion ureterectomy. Genetic studies demonstrated a double-hit constitutional deletion of a DNA mismatch repair protein, revealing a rare Lynch syndrome variant known as Constitutional Mismatch Repair Deficiency Syndrome (CMMRD).
Source: Urology - Category: Urology & Nephrology Authors: Michael K Lam, Aaron P Bayne, Gregory A Thomas, J Christopher Austin Tags: Pediatric Case Reports Source Type: research
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