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

doi:10.1016/j.urology.2016.10.036

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 journal › Article › peer-review

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)
Pages (from-to)	145-146
Number of pages	2
Journal	Urology
Volume	101
DOIs	https://doi.org/10.1016/j.urology.2016.10.036
State	Published - Mar 1 2017

ASJC Scopus subject areas

Urology

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title = "Invasive High-grade Upper Tract Urothelial Carcinoma in a 14-Year-Old Girl",

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.",

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AB - 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.

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

Abstract

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