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Keywords:

  • ureteroscopy;
  • ureteric neoplasms;
  • kidney neoplasms;
  • Lynch Syndrome;
  • hereditary nonpolyposis colorectal cancer

Objectives

  • 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.

Patients and 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.