The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
Ngoc Minh Phuong NguyenRima Slim

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...Continue Reading

References

Sep 1, 1978·American Journal of Obstetrics and Gynecology·A E Szulman, U Surti
Oct 1, 1984·American Journal of Obstetrics and Gynecology·D A Grimes
Jul 1, 1996·Human Pathology·R N BaergenK Benirschke
Jun 13, 1997·American Journal of Medical Genetics·M V ZaragozaR W Redline
Mar 15, 2006·European Journal of Obstetrics, Gynecology, and Reproductive Biology·L-C HornJ Einenkel
Jul 1, 2006·International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists·Colin J R StewartAnthony J McCartney
Sep 23, 2006·International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists·Urvashi SurtiTrevor Macpherson
Mar 25, 2009·Human Mutation·Bruce E HaywardDavid T Bonthron
Oct 10, 2009·The Journal of Molecular Diagnostics : JMD·Kathleen M MurphyBrigitte M Ronnett
Apr 5, 2011·Journal de gynécologie, obstétrique et biologie de la reproduction·H BoufettalN Samouh
Dec 13, 2012·European Journal of Human Genetics : EJHG·Ramesh ReddyRima Slim
Jul 25, 2013·European Journal of Obstetrics, Gynecology, and Reproductive Biology·V UlkerZ O Uyguner
Jun 24, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Trilochan SahooKarine Hovanes
Sep 14, 2016·Human Genome Variation·Maryam RezaeiMajid Fardaei
Sep 16, 2016·European Journal of Human Genetics : EJHG·Ramesh ReddyRima Slim

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Citations

May 12, 2019·Biology of Reproduction·Svetlana A Yatsenko, Aleksandar Rajkovic
Jun 16, 2019·Biology of Reproduction·Mahboobeh AmoushahiKarin Lykke-Hartmann
Jan 31, 2020·Journal of Forensic Sciences·Robert E WenkKristin A Schelling
Feb 8, 2020·JCO Global Oncology·Reda A HemidaLeon F A G Massuger
Aug 28, 2020·Frontiers in Immunology·Marilyne LavergneLoïc Blanchon
Jun 2, 2020·Clinical Case Reports·Brianne RobinsonJillian Coolen
Feb 19, 2020·Human Reproduction Update·Miriam ElbrachtThomas Eggermann
Oct 14, 2020·Scientific Reports·Helle LundLone Sunde
Oct 8, 2020·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Deyin XingBrigitte M Ronnett
Jan 17, 2021·Best Practice & Research. Clinical Obstetrics & Gynaecology·Neil J Sebire
Jan 2, 2021·Journal of Obstetrics and Gynaecology Canada : JOGC = Journal D'obstétrique Et Gynécologie Du Canada : JOGC·Lua EirikssonPhilippe Sauthier
Jul 6, 2021·Best Practice & Research. Clinical Obstetrics & Gynaecology·Baljeet Kaur
Sep 24, 2021·Journal of Assisted Reproduction and Genetics·Elena A SazhenovaIgor N Lebedev
Sep 18, 2020·Journal of Medical Genetics·Nayeralsadat FatemiMehdi Totonchi

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Datasets Mentioned

BETA
AF15169.2

Methods Mentioned

BETA
genotyping
flow cytometry
PCR
electrophoresis
hysterectomy
Exome Sequencing

Software Mentioned

PeakScanner
Cytoscan
Combimatrix
Opticon Monitor
Cytoscan HD

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