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Hydatidiform Moles

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Textbook of Autoinflammation

Abstract

Hydatidiform mole (HM) is a form of human pregnancy loss that is characterized by the absence of, or abnormal, embryonic development and hyperproliferation of the trophoblast. The common form is sporadic and has a multifactorial etiology. Recurrent HM has a Mendelian etiology and segregates according to an autosomal recessive mode of transmission. To date, two genes, NLRP7 and KHDC3L, responsible for recurrent HM have been identified. NLRP7 is the major gene for this condition and underlies the etiology of recurrent HM in 55% of patients with at least two occurrences of HM. Here, we review the current knowledge about this condition and focus on the known roles of NLRP7 in the pathogenesis of recurrent HM.

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Abbreviations

ASC:

Apoptosis-associated speck-like protein containing a CARD

ATP:

Adenosine triphosphate

CARD:

Caspase activation and recruitment domain

CDKN1C:

Cyclin dependent kinase inhibitor 1C

CHM:

Complete hydatidiform mole

FIGO:

International Federation of Gynecology and Obstetrics

GTN:

Gestational trophoblastic neoplasia

hCG:

Human chorionic gonadotropin

HEK293:

Human embryonic kidney cells 293

HM:

Hydatidiform mole

IL1B:

Interleukin 1 beta

KHDC3:

KH domain-containing protein 3

KHDC3L:

KH domain containing 3 like, subcortical maternal complex member

LPS:

Lipopolysacharide

LRR:

Leucine-rich domain

NACHT:

NAIP, CIITA, HET-E, and TP1 domain

NLR:

NOD-like receptor

NLRP2:

NLR family pyrin domain containing 2

NLRP3:

NLR family pyrin domain containing 3

NLRP5:

NLR family pyrin domain containing 5

NLRP7:

NLR family pyrin domain containing 7

NOD:

Nucleotide-binding oligomerization domain

OOEP:

Oocyte expressed protein

p57KIP2:

The protein coded by CDKN1C

PADI6:

Peptidyl arginine deiminase 6

PHM:

Partial hydatidiform mole

POC:

Product of conception

PYD:

Pyrin domain

RHM:

Recurrent hydatidiform mole

SCMC:

Subcortical maternal complex

THP1:

Transfected monocytic cell line

TLE6:

Transducin like enhancer of split 6

ZBED3:

Zinc finger BED-type containing 3

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Acknowledgements

NMPN was supported by fellowships from the Réseau Québécois en Reproduction, McGill Faculty of Medicine, RI-MUHC Desjardins Studentship in Child Health Research, and CRRD. This work was supported by the Canadian Institute of Health Research [MOP-130364] to RS.

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Authors and Affiliations

  1. Department of Human Genetics, McGill University Health Centre Research Institute, Montréal, QC, Canada

    Ngoc Minh Phuong Nguyen & Rima Slim

  2. Department of Obstetrics and Gynecology, McGill University Health Centre Research Institute, Montréal, QC, Canada

    Ngoc Minh Phuong Nguyen & Rima Slim

  3. French Reference Center for Trophoblastic Diseases, Université de Lyon 1 Claude Bernard, University Hospital Lyon Sud, Pierre Bénite, France

    Pierre-Adrien Bolze

Authors
  1. Ngoc Minh Phuong Nguyen
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  2. Pierre-Adrien Bolze
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  3. Rima Slim
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Correspondence to Rima Slim .

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Editors and Affiliations

  1. Pediatric Rheumatology Unit, Shaare Zedek Medical Center and Hebrew University, Jerusalem, Israel

    Philip J. Hashkes

  2. Department Paediatrics, Division of Rheumatology, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada

    Ronald M. Laxer

  3. Department of Internal Medicine, Radboudumc Expertisecenter for Immunodeficiency and Autoinflammation, Radboud University Medical Center, Nijmegen, The Netherlands

    Anna Simon

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Nguyen, N.M.P., Bolze, PA., Slim, R. (2019). Hydatidiform Moles. In: Hashkes, P., Laxer, R., Simon, A. (eds) Textbook of Autoinflammation. Springer, Cham. https://doi.org/10.1007/978-3-319-98605-0_27

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  • DOI: https://doi.org/10.1007/978-3-319-98605-0_27

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