Department of Pathology, Yale University School of Medicine, New Haven, CT, USA.
Department of Obstetrics and Gynecology, Division of Gynecologic Oncology, Yale University School of Medicine, New Haven, CT, USA.
Histopathology. 2018 Jul;73(1):109-123. doi: 10.1111/his.13503. Epub 2018 Apr 16.
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.
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.
Our results highlight the potential benefits and challenges of IOE in this setting and may provide a basis for future practice recommendations.
预防性全子宫切除术（TH）和双侧输卵管卵巢切除术（BSO）已成为妇科恶性肿瘤遗传风险女性的常规手术。术中病理诊断隐匿性恶性肿瘤为立即进行手术分期提供了机会，并有助于避免二次手术。然而，目前尚无关于这些标本最佳术中评估（IOE）的标准指南。我们对预防性 TH 和 BSO 病例进行了回顾性分析，以评估大体发现、冷冻和永久切片取样实践、冷冻切片诊断和诊断差异的存在。
从我们的科室档案中检索了 1990 年至 2017 年期间所有预防性 TH 和 BSO 病例。共有 413 例病例纳入研究：27 例为林奇综合征（LS），222 例为种系 BRCA 1 或 2 突变，164 例为强家族或个人病史（非林奇/非 BRCA）。只有不到一半的病例（413 例中的 159 例；38.5%）进行了 IOE，27 例 LS 病例中的 15 例（56%），222 例 BRCA 病例中的 93 例（42%）和 164 例非林奇/非 BRCA 病例中的 51 例（31%）。在永久切片上，共有 19 例（所有三组患者的 4.6%）最终诊断为恶性或癌前病变。在这 19 例病例中，有 8 例有相应的大体病变（42%），可以在冷冻切片上诊断；然而，只有 1 例进行了 IOE。
我们的结果强调了这种情况下 IOE 的潜在益处和挑战，并可能为未来的实践建议提供依据。
