Bounous Valentina Elisabetta, Robba Elisabetta, Perotto Stefania, Pasini Barbara, Tomasi Cont Nicoletta, Ricci Maria Teresa, Ditto Antonino, Vitellaro Marco, Raspagliesi Francesco, Biglia Nicoletta
Academic Division of Obstetrics and Gynecology-A.O. Ordine Mauriziano, University of Turin, 10128 Turin, Italy.
Ospedale Michele e Pietro Ferrero, 12060 Verduno, Italy.
J Clin Med. 2022 Jun 27;11(13):3689. doi: 10.3390/jcm11133689.
Introduction: About 5% of endometrial cancers (ECs) are attributed to an inherited predisposition, for which Lynch syndrome (LS) accounts for the majority of cases. Women with LS have a 40−60% predicted lifetime risk of developing EC, in addition to a 40−80% lifetime risk of developing colorectal cancer and other cancers. In this population, the lifetime risk of developing ovarian cancer (OC) is 10−12%. Object: to compare the histopathological features of LS-associated EC and OC with sporadic cancers in order to evaluate whether there are differences in terms of age at diagnosis, site of occurrence in the uterus, histological type, stage at diagnosis, and tumor grading. Materials and methods: we compared data obtained from 96 patients with LS-associated gynecological cancers (82 with EC and 14 with OC) to a control group (CG) of 209 patients who developed sporadic EC, and a CG of 187 patients with sporadic OC. Results: The mean age at diagnosis of LS-associated EC and OC was much lower than in the control groups. In both groups with EC, the endometrioid histotype was the most frequently occurring histotype. However, among LS women there was a significantly higher incidence of clear cell tumors (11% versus 2.4% in the CG, p = 0.0001). Similar to the sporadic cancer cases, most of the LS-associated ECs presented at an early stage (89% of cases at FIGO I-II stage). In the LS group, the tumor frequently involved only the inner half of the endometrium (77% of cases, p < 0.01). In the LS group, 7.3% of ECs were localized to the lower uterine segment (LUS), whereas no cancer developed in the LUS in the CG. No serous OCs were diagnosed in the LS group (versus 45.5% in the CG, p = 0.0009). Most of the LS-associated OCs presented at an early stage (85% of cases at FIGO I-II stages, p < 0.01). Conclusion: LS-associated EC and OC seem to have peculiar features, occurring at a younger age and at an earlier stage. In LS, EC less frequently involves the outer half of the endometrium, with a more frequent occurrence in the LUS. The presence of clear cell EC was more frequently observed, whereas in OC, the predominant histotype was endometrioid.
约5%的子宫内膜癌（EC）归因于遗传易感性，其中林奇综合征（LS）占大多数病例。患有LS的女性预计一生中患EC的风险为40−60%，此外患结直肠癌和其他癌症的终生风险为40−80%。在这一人群中，患卵巢癌（OC）的终生风险为10−12%。目的：比较LS相关的EC和OC与散发性癌症的组织病理学特征，以评估在诊断年龄、子宫发生部位、组织学类型、诊断分期和肿瘤分级方面是否存在差异。材料和方法：我们将96例LS相关妇科癌症患者（82例EC和14例OC）的数据与209例散发性EC患者的对照组（CG）以及187例散发性OC患者的CG进行了比较。结果：LS相关EC和OC的平均诊断年龄远低于对照组。在两组EC中，子宫内膜样组织学类型是最常见的组织学类型。然而，在LS女性中，透明细胞肿瘤的发生率显著更高（11%对比CG中的2.4%，p = 0.0001）。与散发性癌症病例相似，大多数LS相关的EC在早期出现（89%的病例为国际妇产科联盟（FIGO）I-II期）。在LS组中，肿瘤常仅累及子宫内膜的内半部分（77%的病例，p < 0.01）。在LS组中，7.3%的EC局限于子宫下段（LUS），而CG中LUS未发生癌症。LS组未诊断出浆液性OC（对比CG中的45.5%，p = ）。大多数LS相关的OC在早期出现（85%的病例为FIGO I-II期，p < 0.01）。结论：LS相关的EC和OC似乎具有特殊特征，发病年龄更小且处于更早阶段。在LS中，EC较少累及子宫内膜的外半部分，在LUS中更常发生。透明细胞EC的存在更常被观察到，而在OC中，主要组织学类型是子宫内膜样。 （注：原文中“p = ”处似乎缺失了具体数值）
