Pavone Mary Ellen, Lyttle Brianna M
Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Department of Obstetrics and Gynecology, University of Massachusetts Medical School, Worcester, MA, USA.
Int J Womens Health. 2015 Jul 1;7:663-72. doi: 10.2147/IJWH.S66824. eCollection 2015.
Endometriosis is a benign gynecological condition characterized by specific histological, molecular, and clinical findings. It affects 5%-10% of premenopausal women, is a cause of infertility, and has been implicated as a precursor for certain types of ovarian cancer. Advances in technology, primarily the ability for whole genome sequencing, have led to the discovery of new mutations and a better understanding of the function of previously identified genes and pathways associated with endometriosis associated ovarian cancers (EAOCs) that include PTEN, CTNNB1 (β-catenin), KRAS, microsatellite instability, ARID1A, and the unique role of inflammation in the development of EAOC. Clinically, EAOCs are associated with a younger age at diagnosis, lower stage and grade of tumor, and are more likely to occur in premenopausal women when compared with other ovarian cancers. A shift from screening strategies adopted to prevent EAOCs has resulted in new recommendations for clinical practice by national and international governing bodies. In this paper, we review the common histologic and molecular characteristics of endometriosis and ovarian cancer, risks associated with EAOCs, clinical challenges and give recommendations for providers.
子宫内膜异位症是一种良性妇科疾病,具有特定的组织学、分子学和临床特征。它影响5%-10%的绝经前女性,是不孕症的一个原因,并且被认为是某些类型卵巢癌的前驱病变。技术的进步,主要是全基因组测序的能力,导致了新突变的发现,并使人们对先前确定的与子宫内膜异位症相关的卵巢癌(EAOC)相关基因和通路的功能有了更好的理解,这些基因和通路包括PTEN、CTNNB1(β-连环蛋白)、KRAS、微卫星不稳定性、ARID1A以及炎症在EAOC发生发展中的独特作用。临床上,与其他卵巢癌相比,EAOC的诊断年龄较轻,肿瘤分期和分级较低,且更易发生于绝经前女性。从预防EAOC所采用的筛查策略的转变,导致了国家和国际管理机构对临床实践的新建议。在本文中,我们综述了子宫内膜异位症和卵巢癌的常见组织学和分子特征、与EAOC相关的风险、临床挑战,并为医疗服务提供者提供建议。