Nguyen Ngoc Minh Phuong, Slim Rima
Department of Human Genetics, McGill University Health Centre Research Institute, Montreal, Quebec Canada ; Department of Obstetrics and Gynecology, McGill University Health Centre Research Institute, Montreal, Quebec Canada.
Department of Human Genetics, McGill University Health Centre Research Institute, Montreal, Quebec Canada ; Department of Obstetrics and Gynecology, McGill University Health Centre Research Institute, Montreal, Quebec Canada ; Montreal General Hospital Research Institute, L3-121, 1650 Cedar Ave., Montreal, Quebec Canada H3G 1A4.
Curr Obstet Gynecol Rep. 2014 Jan 21;3(1):55-64. doi: 10.1007/s13669-013-0076-1. eCollection 2014.
Gestational trophoblastic disease (GTD) is a group of conditions that originate from the abnormal hyperproliferation of trophoblastic cells, which derive from the trophectoderm, the outer layer of the blastocyst that would normally develop into the placenta during pregnancy. GTDs encompass hydatidiform mole (HM) (complete and partial), invasive mole, gestational choriocarcinoma, placental-site trophoblastic tumor, and epithelioid trophoblastic tumor. Of these, the most common is HM, and it is the only one that has been reported to recur in the same patients from independent pregnancies, which indicates the patients' genetic predisposition. In addition, HM is the only GTD that segregates in families according to Mendel's laws of heredity, which made it possible to use rare familial cases of recurrent HMs (RHMs) to identify two maternal-effect genes, and , responsible for this condition. Here, we recapitulate current knowledge about RHMs and conclude with the role and benefits of testing patients for mutations in the known genes.
妊娠滋养细胞疾病（GTD）是一组起源于滋养层细胞异常增殖的疾病，滋养层细胞来源于滋养外胚层，即胚泡的外层，在妊娠期间通常会发育成胎盘。GTD包括葡萄胎（HM）（完全性和部分性）、侵蚀性葡萄胎、妊娠绒毛膜癌、胎盘部位滋养细胞肿瘤和上皮样滋养细胞肿瘤。其中，最常见的是HM，并且它是唯一据报道在同一患者的不同独立妊娠中会复发的类型，这表明患者存在遗传易感性。此外，HM是唯一一种按照孟德尔遗传定律在家族中分离的GTD，这使得利用罕见的复发性葡萄胎（RHM）家族病例来鉴定两个导致这种情况的母系效应基因成为可能。在此，我们总结了关于RHM的现有知识，并以检测患者已知基因突变的作用和益处作为结论。
