Upper Tract Urothelial Carcinoma (UTUC)
LYNCH SYNDROME
A study of 115 UTUC patients published in Jan 2018 Urology showed 13.9% as potential Lynch syndrome (LS) and 5.2% confirmed; however, several patients with potential LS failed to follow up to have confirmatory testing. (1) Previous retrospective study results estimated 16%-21% (2,3) The lifetime risk of UTUC in LS patients is 6%, which is 14 to 22 times higher than the general population. (4) The EAU proposed patients w/ suspected UTUC, including those diagnosed before age 60 years, should undergo germline DNA sequencing. (5)
Other Studies
About 50% of UTUC are upgraded to muscle invasive or high grade on final path. (6)
This is a nice study that looked at the results of performing retrograde pyelogram for patients who the ureter does not opacify with conrast on CTU. (8)
This is a nice study that looked at the results of performing retrograde pyelogram for patients who the ureter does not opacify with conrast on CTU. (8)
- Metcalfe, Michael J., et al. "Universal Point of Care Testing for Lynch Syndrome in Patients with Upper Tract Urothelial Carcinoma." The Journal of urology 199.1 (2018): 60-65.
- Audenet, François, et al. "A proportion of hereditary upper urinary tract urothelial carcinomas are misclassified as sporadic according to a multi‐institutional database analysis: proposal of patient‐specific risk identification tool." BJU international 110.11b (2012).
- Roupret, M., et al. "Microsatellite instability as indicator of MSH2 gene mutation in patients with upper urinary tract transitional cell carcinoma." Journal of medical genetics 41.7 (2004): e91-e91.
- Rouprêt, Morgan, et al. "Upper urinary tract urothelial cell carcinomas and other urological malignancies involved in the hereditary nonpolyposis colorectal cancer (lynch syndrome) tumor spectrum." European urology 54.6 (2008): 1226-1236.
- Rouprêt, Morgan, et al. "European Association of Urology guidelines on upper urinary tract urothelial cell carcinoma: 2015 update." European urology 68.5 (2015): 868-879.
- Margolin, Ezra J., et al. "Discordance between Ureteroscopic Biopsy and Final Pathology for Upper Tract Urothelial Carcinoma." The Journal of urology 199.6 (2018): 1440-1445.
- Paspulati, Anirudh, et al. "The utility of retrograde pyelography to follow up incompletely opacified ureters on CT urography." Abdominal Radiology 45.3 (2020): 807-811.