Invasive High-Grade Upper Tract Urothelial Carcinoma in a 14 Year-Old Girl - Urology Ovarian Cancer and Us OVARIAN CANCER and US Ovarian Cancer and Us

Blog Archives: Nov 2004 - present

#ovariancancers



Special items: Ovarian Cancer and Us blog best viewed in Firefox

Search This Blog

Tuesday, November 08, 2016

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



Hydronephrosis is the swelling of a kidney due to a build-up of urine. It happens when urine cannot drain out from the kidney to the bladder from a blockage or obstruction. Hydronephrosis can occur in one or both kidneys. The main function of the urinary tract is to remove wastes and fluid from the body.

ne·phrec·to·my nəˈfrektəmē/ noun noun: nephrectomy; plural noun: nephrectomies   surgical removal of one or both of the kidneys.
  
u·re·ter·ec·to·my (yū'rē-tĕr-ek'tŏ-mē) Excision of a segment or all of a ureter.
                          ```````````````````````````````````````````````
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 (CMMRD). This disease places her at high risk for multiple malignancies, including upper tract urothelial carcinoma.

0 comments :

Post a Comment

Your comments?