Invasive High-grade Upper Tract Urothelial Carcinoma in a 14-Year-Old Girl

Michael K. Lam, Aaron P. Bayne, Gregory A. Thomas, J. Christopher Austin

Research output: Contribution to journalArticle

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 languageEnglish (US)
Pages (from-to)145-146
Number of pages2
JournalUrology
Volume101
DOIs
StatePublished - Mar 1 2017

ASJC Scopus subject areas

  • Urology

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