Lynch Syndrome–Associated Ovarian Cancer Presents Early, Has Good Prognosis

An analysis of Lynch syndrome–associated ovarian cancer (LSAOC) found that the malignancy tends to present at an early stage and has a generally good prognosis. Ovarian surveillance may be useful in some women to detect this malignancy early.

Lynch syndrome is a condition predisposing individuals to tumor growth, caused by mutations to mismatch repair (MMR) genes. Approximately 2% of all ovarian cancers are due to Lynch syndrome. “There is a clinical imperative to identify LSAOC since surveillance strategies can be used to identify and treat premalignant and early-stage cancers of other anatomical sites,” wrote study authors led by Emma Crosbie, BSc, PhD, of the University of Manchester in the United Kingdom.

Researchers analyzed data for 1,047 individuals with proven MMR mutation from a prospective database in the United Kingdom. From that group, they identified 53 cases of LSAOC; results of the analysis of these patients were published in Gynecologic Oncology.

The mean age at diagnosis was 51 years, and patients were followed for a mean of 64 months. High-grade endometrioid tumors constituted 53% of the total, followed by high-grade serous adenocarcinoma in 17% and mixed tumors in 11%. In 35 cases in which disease stage was verified, most presented with stage IA (34%), IB (11%), or IC (20%) disease. Twenty percent presented with stage II disease, followed by 11% with stage III disease and 1 patient (3%) with stage IV disease.

Eleven women died during follow-up, and six of those (17%) were deemed to be due to ovarian cancer. The LSAOC-specific survival rate at 2 years was 80%. Advanced disease was associated with poor prognosis, but there were not enough women with advanced disease in the study to reach significance.

MMR-mutated women were offered malignancy surveillance beginning in 1998; in this cohort of LSAOC patients, five women underwent annual surveillance. Two LSAOC patients were detected through this screening, and both remain alive without recurrence 12 and 11 years after diagnosis. The other three presented with incidental LSAOC; they also remain alive and well, the researchers reported.

“There is general consensus that women with Lynch syndrome should be offered risk-reducing prophylactic hysterectomy and bilateral salpingo-oophorectomy at around 45 years of age,” the authors wrote. “The utility of ovarian cancer surveillance in Lynch syndrome is not yet evidence based.” They added, though, that the small sample in this cohort is promising for the use of surveillance. “Large collaborative retrospective studies, or adequately powered prospective studies, are needed to provide new insights into LSAOC.”