Abstract
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. This disease places her at high risk for multiple malignancies, including upper tract urothelial carcinoma.
Original language | English (US) |
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Pages (from-to) | 145-146 |
Number of pages | 2 |
Journal | Urology |
Volume | 101 |
DOIs | |
State | Published - Mar 1 2017 |
ASJC Scopus subject areas
- Urology