Zhao Jun, Xiang Yang, Huang Shang-zhi, Wan Xi-run, Dong Min, Hu Shao-yi, He Lian-zhi, Yang Xiu-yu
Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing 100730, China.
Zhonghua Fu Chan Ke Za Zhi. 2006 Mar;41(3):177-81.
To probe the clinical characteristics and genetic origin of familial recurrent mole (FRM).
Two cases of FRM were reported retrospectively. Microsatellite polymorphism was used to determine the genetic origin of the two FRM and other six sporadic moles from other independent families.
The two FRM patients came from two independent families. Both of them had more than two times of hydatidiform moles and the same condition had happened to their sisters. The last mole from each of these two patients was identified as biparental complete hydatidiform mole (BiCHM). Among the six sporadic moles, one was partial hydatidiform mole (PHM), which was identified as triploid with one haploid maternal set of chromosomes and two haploid paternal sets of chromosomes. The other five sporadic moles were all androgenetic complete hydatidiform mole (AnCHM), which lacked maternal genetic material. The two women with FRM developed into persistent trophoblastic disease (PTD) and gained complete remission (CR) after medical therapy and/or pulmonary lobectomy.
FRM is exceedingly rare. Most of them are biparental in origin. It ought to be an important step to identify the genetic origin in evaluating the outcomes of the women with recurrent hydatidiform moles.
探究家族性复发性葡萄胎(FRM)的临床特征及遗传起源。
回顾性报道2例FRM病例。采用微卫星多态性来确定这2例FRM以及来自其他独立家族的6例散发性葡萄胎的遗传起源。
这2例FRM患者来自两个独立家族。她们均有两次以上葡萄胎病史,且其姐妹也出现过同样情况。这两名患者各自的最后一次葡萄胎均被鉴定为双亲完全性葡萄胎(BiCHM)。在6例散发性葡萄胎中,1例为部分性葡萄胎(PHM),被鉴定为三倍体,有一套单倍体母系染色体和两套单倍体父系染色体。另外5例散发性葡萄胎均为雄激素性完全性葡萄胎(AnCHM),缺乏母系遗传物质。这两名FRM患者发展为持续性滋养细胞疾病(PTD),经药物治疗和/或肺叶切除术后完全缓解(CR)。
FRM极为罕见。其大多起源于双亲。在评估复发性葡萄胎患者的预后时,确定遗传起源应是重要的一步。