Levesque Marianne, Wood Richard, Carter Michael D, Brock Jo-Ann, Kieser Katharina
Department of Obstetrics and Gynaecology (Levesque, Brock), Dalhousie University; Nova Scotia Health (Levesque, Wood, Carter, Kieser); Department of Pathology (Wood, Carter, Brock), Dalhousie University; Maritime Medical Genetics Service, IWK Health Centre; Division of Gynaecologic Oncology (Kieser), Department of Obstetrics and Gynaecology, Dalhousie University, Halifax, NS.
Department of Obstetrics and Gynaecology (Levesque, Brock), Dalhousie University; Nova Scotia Health (Levesque, Wood, Carter, Kieser); Department of Pathology (Wood, Carter, Brock), Dalhousie University; Maritime Medical Genetics Service, IWK Health Centre; Division of Gynaecologic Oncology (Kieser), Department of Obstetrics and Gynaecology, Dalhousie University, Halifax, NS
CMAJ Open. 2023 Oct 31;11(5):E1012-E1019. doi: 10.9778/cmajo.20220136. Print 2023 Sep-Oct.
Identifying people with Lynch syndrome, a genetic condition predisposing those affected to colorectal, endometrial and other cancers, allows for implementation of risk-reducing strategies for patients and their families. The goal of this study was to describe screening and testing practices for this condition among people with endometrial cancer in Nova Scotia, Canada, and to determine the prevalence of Lynch syndrome in this population.
All patients diagnosed with endometrial cancer in Nova Scotia between May 1, 2017, and Apr. 30, 2020 were identified through a provincial gynecologic oncology database. Patients from out of province were excluded. We collected age, body mass index, tumour mismatch repair protein immunohistochemistry results, personal and family histories, and germline testing information for all patients.
We identified 465 people diagosed with endometrial cancer during the study period. Most were aged 51 years or older, and had obesity and low-grade early-stage endometrioid tumours. Tumour immunohistochemistry testing was performed in 444 cases (95.5%). Based on local criteria, 189 patients were eligible for genetic counselling, of whom 156 (82.5%) were referred to medical genetics. Of the 98 patients who underwent germline testing, 9 (9.2%) were diagnosed with Lynch syndrome.
The prevalence of Lynch syndrome was at least 1.9% (9/465) in this population. Our results illustrate successful implementation of universal tumour testing; however, there remains a gap in access to genetic counselling.
林奇综合征是一种遗传性疾病，会使患者易患结直肠癌、子宫内膜癌和其他癌症。识别林奇综合征患者有助于为患者及其家人实施降低风险的策略。本研究的目的是描述加拿大新斯科舍省子宫内膜癌患者中针对该疾病的筛查和检测方法，并确定该人群中林奇综合征的患病率。
通过省级妇科肿瘤数据库识别出2017年5月1日至2020年4月30日期间在新斯科舍省被诊断为子宫内膜癌的所有患者。排除省外患者。我们收集了所有患者的年龄、体重指数、肿瘤错配修复蛋白免疫组化结果、个人和家族病史以及种系检测信息。
在研究期间，我们识别出465例被诊断为子宫内膜癌的患者。大多数患者年龄在51岁及以上，患有肥胖症且为低级别早期子宫内膜样肿瘤。444例（95.5%）进行了肿瘤免疫组化检测。根据当地标准，189例患者符合基因咨询条件，其中156例（82.5%）被转介至医学遗传学部门。在98例接受种系检测的患者中，9例（9.2%）被诊断为林奇综合征。
该人群中林奇综合征的患病率至少为1.9%（9/465）。我们的结果表明普遍肿瘤检测得以成功实施；然而，在获得基因咨询方面仍存在差距。
