在多样化患者群体中，使用即时护理遗传咨询和检测对子宫内膜癌和卵巢癌进行研究未观察到种族差异：一项回顾性队列研究

No Racial Disparities Observed Using Point-of-Care Genetic Counseling and Testing for Endometrial and Ovarian Cancer in a Diverse Patient Population: A Retrospective Cohort Study.

作者信息

Kim Michael, Hayek Judy, Acker Cheyenne, An Anjile, Zhang Peilin, Gorelick Constantine, Kanis Margaux J

机构信息

New York-Presbyterian Brooklyn Methodist Hospital, Brooklyn, NY 11215, USA.

Division of Gynecologic Oncology, State University of New York Downstate Medical Center, Brooklyn, NY 11203, USA.

出版信息

Cancers (Basel). 2024 Apr 22;16(8):1598. doi: 10.3390/cancers16081598.

DOI:10.3390/cancers16081598

PMID:38672679

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11049633/

Abstract

We investigated genetic counseling and testing rates for patients with gynecologic malignancy at a tertiary care center with a large minority population. Our retrospective cohort included newly diagnosed epithelial ovarian, fallopian tube, peritoneal, or endometrial cancer patients between January 2014 and June 2022. For endometrial cancer, 373 patients were identified. A total of 207 (55%) patients were screened using mismatch repair immunohistochemistry (MMR IHC). A total of 82 (40%) had MMR deficiencies on IHC. Of these, 63 (77%) received genetic counseling. A total of 62 (98%) underwent genetic testing, and ultimately, 7 (11%) were diagnosed with Lynch syndrome (LS). The overall rate of LS was 1.9%. MMR IHC testing increased steadily, reaching 100% in 2022. For ovarian cancer, 144 patients were identified. A total of 104 (72%) patients received genetic counseling, and 99 (95%) underwent genetic testing. Rates were not influenced by race, ethnicity, insurance type, or family history of cancer. They were significantly different by cancer stage ( < 0.01). The proportion of patients who received genetic counseling increased from 47% in 2015 to 100% in 2022 ( < 0.01). Most counseling was performed by a gynecologic oncologist (93%) as opposed to a genetic counselor (6.7%). Overall, 12 (8.3%) patients were . High rates of counseling and testing were observed with few disparities.

摘要

我们在一个少数民族人口众多的三级医疗中心，对妇科恶性肿瘤患者的遗传咨询和检测率进行了调查。我们的回顾性队列研究纳入了2014年1月至2022年6月期间新诊断的上皮性卵巢癌、输卵管癌、腹膜癌或子宫内膜癌患者。对于子宫内膜癌，共识别出373例患者。共有207例（55%）患者接受了错配修复免疫组化（MMR IHC）筛查。其中82例（40%）在免疫组化中存在MMR缺陷。在这些患者中，63例（77%）接受了遗传咨询。共有62例（98%）接受了基因检测，最终，7例（11%）被诊断为林奇综合征（LS）。LS的总体发生率为1.9%。MMR IHC检测稳步增加，在2022年达到100%。对于卵巢癌，共识别出144例患者。共有104例（72%）患者接受了遗传咨询，99例（95%）接受了基因检测。这些比率不受种族、民族、保险类型或癌症家族史的影响。它们在癌症分期方面有显著差异（<0.01）。接受遗传咨询的患者比例从2015年的47%增加到2022年的100%（<0.01）。大多数咨询由妇科肿瘤学家进行（93%），而由遗传咨询师进行的占6.7%。总体而言，12例（8.3%）患者……观察到咨询和检测率较高，差异较小。