Surveillance for endometrial cancer in hereditary nonpolyposis colorectal cancer syndrome

Abstract

The estimated lifetime risk for endometrial carcinoma (EC) in hereditary nonpolyposis colorectal cancer syndrome (HNPCC) is 32-60%, thus supporting surveillance. The survival rate of EC patients is, however, favourable questioning the need for surveillance. Yet, the effectiveness of gynecological surveillance remains to be shown. The 2 previously published studies were based on transvaginal ultrasound (TVUS) alone. Intrauterine biopsy has not been tested in surveillance for EC in HNPCC families. The effect of gynecological surveillance was evaluated among 175 Finnish mutation carriers. During 759 person years at risk, there were 503 surveillance visits including TVUS and intrauterine biopsy of endometrium at 94% and 74% of the visits, respectively. EC occurred in 14 cases, 11 of which were diagnosed by surveillance, 8 by intrauterine biopsies. TVUS indicated only 4 EC patients but missed 6 other cases. Intrauterine sampling detected 14 additional cases of potentially premalignant hyperplasia. The stage distribution and survival tended to be more favorable in the 14 EC cases of the surveilled group (no deaths) than in the group of 83 symptomatic mutation carriers of whom 6 died of EC, but with no statistical significance. Four cases of ovarian cancer occurred but none was detected by surveillance in TVUS examinations. In conclusion, EC surveillance in HNPCC seems more effective with endometrial biopsies than with TVUS alone. A definite improvement in survival remains to be shown. The detection of early cancer stages and premalignant lesions offers the opportunity to avoid extensive adjuvant treatment. ' 2006 Wiley-Liss, Inc.Key words: hereditary nonpolyposis colorectal cancer; HNPCC; surveillance; endometrial cancer; hyperplasia Germline mutations in DNA mismatch repair genes cause hereditary nonpolyposis colorectal cancer (HNPCC), which is characterized by the early occurrence of colorectal cancer and some extracolonic cancers of which endometrial carcinoma (EC) is the most common.1 The lifetime risk of EC has varied between 32% and 60% in different estimates.2-4 MSH2 mutation carriers seem to be at higher risk for EC than MLH1 carriers, and MSH6 carriers may be at even greater risk. 5,6 The high risk for EC suggests that prophylactic surveillance may benefit patients with HNPCC.The survival rate of HNPCC-associated EC is favorable. In a group of 125 women fulfilling the Amsterdam criteria, Vasen et al. reported that only 12% died of endometrial cancer.7 Compared with matched sporadic EC cases, Boks et al. found no difference in the survival rate among 50 EC patients from HNPCC families; the overall cumulative 5-year survival rates were 88% and 82% respectively. 8 Thus, the question arises whether the surveillance for EC is at all necessary in HNPCC.Regular surveillance for EC by annual or biannual transvaginal ultrasound (TVUS) scan or endometrial aspiration biopsy has been recommended beginning at age 30-35 years for the early detection of EC or premalignant lesion.9-11 However, the effectiveness of gynecolog...

Cost‐effectiveness analysis of prevention strategies for gynecologic cancers in Lynch syndrome

“…31,32 However, according to a Finnish population-based study, screening with endometrial biopsy identified more cases of early endometrial cancer or hyperplasia compared with symptoms alone. 33 Assuming that screening has imperfect specificity, it will lead to surgery on the basis of false-positive results (ie, atypical endometrial hyperplasia in the absence of endometrial cancer on final pathology or elevated CA 125 and pelvic mass in the absence of ovarian cancer) and thereby decrease the total number of cancer cases. Consequently, the highest net health benefit in this population is achieved with a combination of annual screening from age 30 years until prophylactic surgery at age 40 years.…”

S3-Leitlinie – Kolorektales Karzinom

“…Die Stadienverteilung und damit auch Prognose HNPCC-assoziierter kolorektaler Karzinome, die im Rahmen eines Vorsorgeprogrammes entdeckt werden, ist signifikant günstiger verglichen zu Karzinomen, die aufgrund von Symptomen der Erkrankung diagnostiziert worden sind [277]. Die Koloskopie kann als Chromoendoskopie erfolgen.…”

Lynch Syndrome Presenting as Endometrial Cancer

“…In contrast, a Finnish study showed that the use of endometrial biopsy and transvaginal ultrasound together detected EC better than transvaginal ultrasound alone. Eleven of 14 ECs were diagnosed via endometrial biopsy, compared with 8 of 14 ECs diagnosed via ultrasound alone (55 ). Because many early-stage ECs present with such symptoms as abnormal vaginal bleeding, however, it is still not clear whether heightened surveillance ultimately improves cancer detection and survival (56 ).…”