Major Genetic Syndromes
Routine screening for endometrial cancer has not been shown to be beneficial in the general population, but expert consensus suggests that it be considered in women who are members of high-risk LS families. Some studies suggest that women with a clinical or genetic diagnosis of LS do not universally adopt intensive gynecologic screening.[309,310] (Refer to the Gynecologic cancer screening in LS section of this summary for more information.) Despite absence of a survival advantage, a task force organized by the National Institutes of Health (NIH) has suggested annual endometrial sampling beginning at age 30 to 35 years. TVUS can also be considered annually to evaluate the ovaries.[294,301]
The published literature on TVUS for endometrial cancer screening has shown it to be insensitive and nonspecific, but because there may still be a role for TVUS in ovarian cancer screening, clinical practice guidelines have been reluctant to date to recommend against TVUS.
Level of evidence: 5
Risk-reducing surgery in LS
There have been no controlled studies of the benefit of risk-reducing surgery in at-risk MMR gene mutation carriers. Recommendations based upon expert opinion, however, have been formulated by a panel convened by an NIH research consortium. The expert panel recommended consideration of risk-reducing subtotal colectomy as an option for persons with LS having adenomas at surveillance because of their risk of additional adenomas and cancer. In addition, the panel recommended presenting risk-reducing subtotal colectomy as an option for persons with LS who are not willing or are unable to undergo periodic colonic surveillance. Patients should be counseled, however, that the efficacy of these interventions is unknown.
The expert panel recommended that risk-reducing hysterectomy (RRH) and bilateral salpingo-oophorectomy (RRSO) be presented as options for women with LS, and that counseling include thoughtful discussion of childbearing plans, psychosocial effects of risk-reducing surgery, long-term effects of prolonged estrogen replacement therapy, and uncertainties concerning the efficacy of risk-reducing surgery as a means to reduce the risk of endometrial or ovarian cancer.
Level of evidence for colon cancer: 5
A retrospective study of 315 female patients with germline mutations associated with LS reported no occurrences of endometrial, ovarian, or primary peritoneal cancers in women who underwent RRH with or without RRSO compared with women who had no risk-reducing surgery. Sixty-nine of 210 women developed endometrial cancer, and 12 of 223 women developed ovarian cancer in the control group. In the risk-reducing surgery group, 61 and 47 women underwent RRH or RRSO, respectively. The authors suggested that RRH with RRSO is an effective strategy for preventing endometrial and ovarian cancer in women with LS. There were no data on survival benefit from risk-reducing surgical intervention in this study.
Level of evidence: 3di