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 | |
| State | Published - Mar 1 2017 |
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ASJC Scopus subject areas
- Urology
Cite this
Invasive High-grade Upper Tract Urothelial Carcinoma in a 14-Year-Old Girl. / Lam, Michael K.; Bayne, Aaron P.; Thomas, Gregory; Austin, James (Christopher).
In: Urology, Vol. 101, 01.03.2017, p. 145-146.Research output: Contribution to journal › Article
}
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, James (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
VL - 101
SP - 145
EP - 146
JO - Urology
JF - Urology
SN - 0090-4295
ER -