title: Ureteroscopic management of upper tract urothelial carcinoma (UTUC) in patients with Lynch Syndrome (hereditary nonpolyposis colorectal cancer syndrome).
abstract: OBJECTIVE
  To report our experience with ureteroscopic laser ablation of upper tract urothelial carcinoma (UTUC) in patients with Lynch Syndrome (LS), as defined by a documented germline mutation in the MSH-2 gene. To increase awareness among urologists about UTUC in this unique patient population and refer to genetic counselling when appropriate.
  
  
  METHODS
  Demographic, clinical and pathological data on 13 consecutive patients with UTUC and documented MSH-2 mutation comprising 15 involved renal units were retrospectively collected. Ureteroscopic evaluations involved biopsy and laser treatment with combination holmium/neodymium yttrium aluminum garnet (YAG) lasers. Tumours were graded from 1 to 3 according to the 1973 World Health Organisation classification by a single pathologist evaluating cell block preparations.
  
  
  RESULTS
  The mean patient age at initial presentation was 56.5 years, with six of 13 patients having metachronous bilateral UT disease. The mean follow-up was 59 months with a mean number of surveillances of 12. Of 15 affected renal units, 10/15 (67%) of initial tumours involved the ureter with mean lesion size of 17.5 mm, while five of 15 (33%) involved the intrarenal collecting system with mean lesion size of 25 mm. Ureteroscopy cleared 13/15 (87%) lesions and four of those 13 (31%) needed staged procedures. Renal preservation rate was 14/15 (93%) with one nephroureterectomy and one segmental ureterectomy performed. One patient developed metastatic UTUC after 40 months surveillance. No patient presented with bladder tumours but seven of the 13 (54%) developed them within 10 months of the initial ureteroscopy.
  
  
  CONCLUSIONS
  Patients with LS who develop UTUC present at younger ages and appear to be more likely to have bilateral UT disease over their lifetimes vs sporadic UTUC patients. Ureteroscopic laser ablation offers a good renal preservation rate with reasonable cancer control in patients willing to undergo endoscopic surveillance. Development of new bladder tumours is common.
authors: Department of Urology, Thomas Jefferson University Hospital, Philadelphia, PA, USA.
authors: Scott G
authors: SG
authors: Hubosky
authors: Bruce M
authors: BM
authors: Boman
authors: Sarah
authors: S
authors: Charles
authors: Marluce
authors: M
authors: Bibbo
authors: Demetrius H
authors: DH
authors: Bagley
mesh_terms: D000328:Adult; D000368:Aged; D002295:Carcinoma, Transitional Cell / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics / Q000401:mortality / Q000601:surgery; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D008297:Male; D008875:Middle Aged; D051718:MutS Homolog 2 Protein / Q000235:genetics; D009154:Mutation; D060787:Neoplasm Grading; D009378:Neoplasms, Multiple Primary; D009392:Nephrectomy; D012189:Retrospective Studies; D016896:Treatment Outcome; D014481:United States / Q000453:epidemiology; D014516:Ureteral Neoplasms / Q000150:complications / Q000473:pathology / Q000601:surgery*; D018666:Ureteroscopy / Q000379:methods*
chemical_list: D004273:DNA, Neoplasm; C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein
keywords: Lynch Syndrome; hereditary nonpolyposis colorectal cancer; kidney neoplasms; ureteric neoplasms; ureteroscopy