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Related Experiment Video

Updated: Jun 7, 2026

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Published on: October 20, 2019

[Review: Repetitive hydatidiform moles].

J Muhlstein¹, F Golfier, L Frappart

¹Pôle de gynécologie-obstétrique et reproduction, service de gynécologie, maternité régionale Adolphe-Pinard, 10, rue du Dr.-Heydenreich, CS 74213, 54042 Nancy cedex, France.

Gynecologie, Obstetrique & Fertilite

|October 23, 2010

Summary

Repetitive moles, often linked to NLRP7 gene mutations causing imprinting defects, are rare. This study identifies NLRP7 mutations in 50% of patients with recurrent hydatidiform moles.

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Last Updated: Jun 7, 2026

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

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Published on: March 3, 2023

Area of Science:

Genetics
Reproductive Medicine
Oncology

Background:

Recurrent hydatidiform moles are rare, occurring in less than 1% of patients.
These cases can be sporadic or familial, sometimes associated with consanguinity.
NLRP7 gene mutations are implicated in some cases, leading to genomic imprinting alterations.

Observation:

Among 1687 patients, 13 had at least two hydatidiform moles.
NLRP7 gene mutations were identified in 50% (6 of 12) of tested patients.
Both homozygous and heterozygous mutations were observed, with no specific mole type preference.

Findings:

NLRP7 mutations explain a significant portion of recurrent hydatidiform mole cases.
The study highlights the role of genomic imprinting defects in mole recurrence.
Affected patients can present with either complete or partial hydatidiform moles.

Implications:

Understanding NLRP7 mutations is crucial for diagnosing and managing recurrent moles.
Further research is needed to develop effective therapeutic strategies.
This work contributes to the understanding of imprinting disorders and their clinical manifestations.