Objective: To probe the clinical characteristics and genetic origin of familial recurrent mole (FRM).
Methods: 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.
Results: 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.
Conclusions: 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.
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