ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2018
The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 83 citations in OpenAlex.
- Molecular Basis of Hydatidiform Moles-A Systematic Review.International journal of molecular sciences · 2024Pooled it
- Severe infantile obesity with a maternalClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026Article
- TCL1A mediates DNA methylation defects in recurrent hydatidiform mole with NLRP7 pathogenic variants.Nature communications · 2026Article
- Novel variants in MEI1 cause female infertility characterized by early embryonic arrest and implantation failure.Journal of assisted reproduction and genetics · 2026Article
- Article
- Gestational Trophoblastic Disease: Diagnostic and Therapeutic Updates in Light of Recent Evidence: A Literature Review.Medicina (Kaunas, Lithuania) · 2025Review
- Novel scoring system provides high separation of diploidy and triploidy to aid partial hydatidiform mole diagnosis: an adaption ofJournal of clinical pathology · 2025Article
- Enhancing Clinical Applications by Evaluation of Sensitivity and Specificity in Whole Exome Sequencing.International journal of molecular sciences · 2024Article
- Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles.The Journal of clinical investigation · 2024Article
- Practical guidelines of the EOTTD for pathological and genetic diagnosis of hydatidiform moles.Virchows Archiv : an international journal of pathology · 2024Review
- Imprinting disorders.Nature reviews. Disease primers · 2023Review
- High Risk of Gestational Trophoblastic Neoplasia Development in Recurrent Hydatidiform Moles withBalkan journal of medical genetics : BJMG · 2023Article
- Association of extended culture to blastocyst and pre-malignant gestational trophoblastic disease risk following IVF/ICSI-assisted reproduction cycles: an analysis of large UK national database.Journal of assisted reproduction and genetics · 2022Article
- Genetic screening of Chinese patients with hydatidiform mole by whole-exome sequencing and comprehensive analysis.Journal of assisted reproduction and genetics · 2022Article
- Maternal effect genes as risk factors for congenital heart defects.HGG advances · 2022Article
- Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.Clinical epigenetics · 2022Article
- Maternal effect genes: Update and review of evidence for a link with birth defects.HGG advances · 2022Review
- Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy.Journal of medical genetics · 2021Article
- NLRP7 variants in spontaneous abortions with multilocus imprinting disturbances from women with recurrent pregnancy loss.Journal of assisted reproduction and genetics · 2021Article
- Application of next-generation sequencing to preimplantation genetic testing for recurrent hydatidiform mole patients.Journal of assisted reproduction and genetics · 2021Article
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Authors and funding
39 authors at 20 institutions in 11 countries.
Funding
Abstract
Hydatidiform mole is an aberrant human pregnancy characterized by early embryonic arrest and excessive trophoblastic proliferation. Recurrent hydatidiform moles are defined by the occurrence of at least two hydatidiform moles in the same patient. Fifty to eighty percent of patients with recurrent hydatidiform moles have biallelic pathogenic variants in NLRP7 or KHDC3L. However, in the remaining patients, the genotypic types of the moles are unknown. We characterized 80 new hydatidiform mole tissues, 57 of which were from patients with no mutations in the known genes, and we reviewed the genotypes of a total of 123 molar tissues. We also reviewed mutation analysis in 113 patients with recurrent hydatidiform moles. While all hydatidiform moles from patients with biallelic NLRP7 or KHDC3L mutations are diploid biparental, we demonstrate that those from patients without mutations are highly heterogeneous and only a small minority of them are diploid biparental (8%). The other mechanisms that were found to recur in patients without mutations are diploid androgenetic monospermic (24%) and triploid dispermic (32%); the remaining hydatidiform moles were misdiagnosed as moles due to errors in the analyses and/or their unusual mechanisms. We compared three parameters of genetic susceptibility in patients with and without mutations and show that patients without mutations are mostly from non-familial cases, have fewer reproductive losses, and more live births. Our data demonstrate that patients with recurrent hydatidiform moles and no mutations in the known genes are, in general, different from those with mutations; they have a milder genetic susceptibility and/or a multifactorial etiology underlying their recurrent hydatidiform moles. Categorizing these patients according to the genotypic types of their recurrent hydatidiform moles may facilitate the identification of novel genes for this entity.
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