Hysteroscopic findings in women at risk of HNPCC. Results of a prospective observational study

To report the feasibility and results of diagnostic hysteroscopy in women at risk of HNPCC.

Fifty-seven women with mismatch repair gene mutations (n = 11) or Amsterdam II criteria (n = 46) were followed-up prospectively from January 1999 to March 2005. Flexible hysteroscopy was performed once a year. The endometrium was sampled routinely.

Of 91 attempted hysteroscopies, 10 failed. The endometrial mucosa appeared normal in 34 cases. Polyps were seen in 12 cases, atrophy in 11, hypertrophy in 10, and fibroids in 7; two hysteroscopies suspected malignancy. A micropolypoid appearance was visualized during five hysteroscopies (5/81, 6%). Of the 86 endometrial biopsy attempts, 64 were successful and showed atrophy (n = 14), proliferation (n = 12), secretion (n = 27), polyps (n = 6), simple hyperplasia without atypia (n = 3), or cancer (n = 2). Micropolypoid appearance was not associated with a specific histological pattern. Operative hysteroscopy was done in 24 cases; in two patients with apparently benign focal lesions the results showed simple hyperplasia without atypias. Five patients underwent hysterectomy (simple hyperplasia without atypias, n = 2; endometrioid adenocarcinoma, n = 2; or secretory mucosa, n = 1). This study led to diagnosis of endometrial simple hyperplasia in 6% of cases and of cancer in 3%.

In patients at risk of HNPCC, hysteroscopy appears feasible to screen endometrial pathology. Two cancers have been diagnosed over 91 patient-years at risk. Hysteroscopy should be compared to sonography as a screening tool in women at risk of HNPCC.