Upper Urinary Tract Carcinoma in Lynch Syndrome Cases - Lynch et al/J Urology

Abstract

PURPOSE: Patients with Lynch syndrome are much more likely to have generally rare upper urinary tract urothelial carcinoma but not bladder urothelial carcinoma. While the risk has been quantified, to our knowledge there is no description of how this population of patients with Lynch syndrome and upper urinary tract cancer differs from the general population with upper urinary tract cancer.

MATERIALS AND METHODS: We obtained retrospective data on a cohort of patients with Lynch syndrome from the Hereditary Cancer Center in Omaha, Nebraska and compared the data to those on a control general population from western Sweden. These data were supplemented by a new survey about exposure to known risk factors.

RESULTS: Of the patients with Lynch syndrome 91% had mutations in MSH2 rather than in MSH1 and 79% showed upper tract urothelial carcinoma a mean of 15.85 years after prior Lynch syndrome-type cancer. Median age at diagnosis was 62 years vs 70 in the general population (p <0.0001). Only half of our patients had a significant smoking history and the male-to-female ratio was 0.95. Of patients with Lynch syndrome 51% had urothelial carcinoma in the ureter while it occurred in the renal pelvis in 65% of the general population (p = 0.0013). Similar numbers of high grade tumors were found in the Lynch syndrome and general populations (88% and 74%, respectively, p = 0.1108).

CONCLUSIONS: Upper urinary tract tumors develop at a younger age and are more likely to be in the ureter with an almost equal gender ratio in patients with Lynch syndrome.
It has high grade potential similar to that in the general population.

Lynch Syndrome Hereditary Cancers Public Awareness Day | Fight Colorectal Cancer

Increased Risk of Cancer

If a parent carries a Lynch mutation there is a 50-50 chance that their child will inherit Lynch syndrome with

• 60 to 80 percent increased lifetime risk of colorectal cancer.
• 40 to 70 percent increased risk of endometrial cancer (cancer of the uterus lining).
• 13 percent increased risk for stomach cancer
• 12 percent increased risk of ovarian cancer.
• smaller, but significant risk of small intestine, urinary tract, heptobiliary (liver, gall bladder and bile ducts), skin, and brain cancers.
• Some families may also have increased risk for breast cancer.

Note: 
Lynch Syndrome is also noted for multiple primary cancers (different cancers in one person)

abstract: Urinary tract injury: medical negligence or unavoidable complication?

"The incidence of urinary tract injury is low in most gynaecological operations but, if undiagnosed, is a cause of significant postoperative morbidity for the patient and litigation for the gynaecologist. A Medline search of studies of urinary tract injury at gynaecological surgery show that only one in 10 ureteral injuries and one in three bladder injuries are detected at the time of surgery without intra-operative cystoscopy. As cystoscopy is not routinely performed by the majority of gynaecologists during surgery, even in difficult cases, failure to detect injury to the urinary tract by itself should not be seen as negligence. However, all gynaecologists performing pelvic surgery should be encouraged to become competent in cystourethroscopy and perform this intra-operatively, at least in all high-risk cases of gynaecological surgery."