Intra-operative evaluation of prophylactic hysterectomy and salpingo-oophorectomy specimens in hereditary gynaecological cancer syndromes

Aims: Prophylactic total hysterectomy (TH) and bilateral salpingo-oophorectomy (BSO) have become routine procedures in women at genetic risk for gynaecological malignancies. Intra-operative pathology diagnosis of an occult malignancy provides the opportunity for immediate surgical staging and helps to avoid a second surgery. However, no standard guidelines exist for optimal intra-operative evaluation (IOE) of these specimens. We performed a retrospective analysis of prophylactic TH and BSO cases to assess the presence of gross findings, frozen and permanent section sampling practices, frozen section diagnoses and diagnostic discrepancies.

Methods and results: All prophylactic TH and BSO cases between 1990 and 2017 were retrieved from our departmental archives. A total of 413 cases were included in the study: 27 with Lynch syndrome (LS), 222 with germline BRCA 1 or 2 mutations and 164 cases with strong family or personal history (non-Lynch/non-BRCA). Only fewer than half of all cases (159 of 413; 38.5%) were sent for IOE, 15 of 27 (56%) LS cases, 93 of 222 (42%) BRCA cases and 51 of 164 (31%) non-Lynch/non-BRCA cases. A total of 19 patients (4.6% of patients combining all three groups) had a final diagnosis of malignancy or premalignancy on permanent sections. Of these 19 cases, eight had a corresponding gross lesion (42%) and could have been diagnosed on frozen section; however, only one of them underwent IOE.

Conclusions: Our results highlight the potential benefits and challenges of IOE in this setting and may provide a basis for future practice recommendations.