TY - JOUR
T1 - Invasive High-grade Upper Tract Urothelial Carcinoma in a 14-Year-Old Girl
AU - Lam, Michael K.
AU - Bayne, Aaron P.
AU - Thomas, Gregory
AU - Austin, J. Christopher
PY - 2017/3/1
Y1 - 2017/3/1
N2 - 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.
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.
UR - http://www.scopus.com/inward/record.url?scp=85008943051&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85008943051&partnerID=8YFLogxK
U2 - 10.1016/j.urology.2016.10.036
DO - 10.1016/j.urology.2016.10.036
M3 - Article
C2 - 27816604
AN - SCOPUS:85008943051
VL - 101
SP - 145
EP - 146
JO - Urology
JF - Urology
SN - 0090-4295
ER -