Invasive High-grade Upper Tract Urothelial Carcinoma in a 14-Year-Old Girl.
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.
Department of Urology, Oregon Health & Science University, Portland, OR. Electronic address: lamm@ohsu.edu.
Michael K
MK
Lam
Department of Urology, Oregon Health & Science University, Portland, OR.
Aaron P
AP
Bayne
Department of Pediatrics, Division of Pediatric Hematology and Oncology, Oregon Health & Science University, Portland, OR.
Gregory A
GA
Thomas
Department of Urology, Oregon Health & Science University, Portland, OR.
J Christopher
JC
Austin
D000293:Adolescent; D001706:Biopsy; D002295:Carcinoma, Transitional Cell / Q000175:diagnosis* / Q000601:surgery; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D010535:Laparoscopy; D009361:Neoplasm Invasiveness; D009367:Neoplasm Staging; D009392:Nephrectomy; D014057:Tomography, X-Ray Computed; D014513:Ureter / Q000000981:diagnostic imaging*; D014516:Ureteral Neoplasms / Q000175:diagnosis* / Q000601:surgery; D018666:Ureteroscopy