[Review: Repetitive hydatidiform moles].
Repetitive moles are rare. They are either sporadic or familial, with or without consanguinity. Some of them can be explained by a NLRP7 mutation, which causes genomic parental imprinting alteration, with a preferential paternal phenotypic expression. Currently, no effective therapeutic solution has been developed. Among the 1687 patients declared to the French Trophoblastic Disease Reference Center, 13 presented at least two hydatidiform moles, thus less than 1% of the patients. A mutation of the NLRP7 gene was shown in six of 12 tested patients (50%) among whom three presented a homozygous mutation and three a heterozygous mutation. For an affected patient, type of mole can indifferently be a complete hydatidiform mole or a partial hydatidiform mole. We describe these cases and compare them to those already published.
Pôle de gynécologie-obstétrique et reproduction, service de gynécologie, maternité régionale Adolphe-Pinard, 10, rue du Dr.-Heydenreich, CS 74213, 54042 Nancy cedex, France.
J
J
Muhlstein
F
F
Golfier
L
L
Frappart
G
G
Poulizac
F
F
Abel
I
I
Touitou
T
T
Hajri
D
D
Raudrant
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006828:Hydatidiform Mole / Q000453:epidemiology* / Q000235:genetics*; D009154:Mutation; D011247:Pregnancy; D014594:Uterine Neoplasms / Q000453:epidemiology* / Q000235:genetics*
D048868:Adaptor Proteins, Signal Transducing; C502448:NLRP7 protein, human