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Hydatidiform mole, recurrent, 3(HYDM3)

MedGen UID:
1677775
•Concept ID:
C5193093
•
Disease or Syndrome
Synonyms: HYDATIDIFORM MOLE, RECURRENT, 3; HYDM3
 
Gene (location): MEI1 (22q13.2)
 
Monarch Initiative: MONDO:0032746
OMIM®: 618431

Definition

Hydatidiform mole is a human pregnancy with abnormal or no embryonic development and excessive trophoblastic proliferation. Partial hydatidiform moles have a triploid dispermic genome, with 2 sets of paternal chromosomes and 1 set of maternal chromosomes; complete hydatidiform moles have a diploid androgenetic genome with all chromosomes originating from 1 (monospermic) or 2 (dispermic) sperms, and no maternal chromosomes (summary by Nguyen et al., 2018). For a discussion of genetic heterogeneity of recurrent hydatidiform mole, see HYDM1 (231090). [from OMIM]

Clinical features

From HPO
Female infertility
MedGen UID:
5795
•Concept ID:
C0021361
•
Pathologic Function
Infertility in a woman.
See: Feature record | Search on this feature
Hydatidiform mole
MedGen UID:
9329
•Concept ID:
C0020217
•
Neoplastic Process
Hydatidiform mole (HM) is an aberrant human pregnancy with absence of, or abnormal embryonic development, hydropic degeneration of chorionic villi, and excessive proliferation of the trophoblast.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Comprehensive analysis of 204 sporadic hydatidiform moles: revisiting risk factors and their correlations with the molar genotypes.
Khawajkie Y, Mechtouf N, Nguyen NMP, Rahimi K, Breguet M, Arseneau J, Ronnett BM, Hoffner L, Lazure F, Arnaud M, Peers F, Tan L, Rafea BA, Aguinaga M, Horowitz NS, Ao A, Tan SL, Brown R, Buckett W, Surti U, Hovanes K, Sahoo T, Sauthier P, Slim R
Mod Pathol 2020 May;33(5):880-892. Epub 2019 Dec 19 doi: 10.1038/s41379-019-0432-4. PMID: 31857680
Gestational trophoblastic diseases - clinical guidelines for diagnosis, treatment, follow-up, and counselling.
Niemann I, Vejerslev LO, Frøding L, Blaakær J, Maroun LL, Hansen ES, Grove A, Lund H, Havsteen H, Sunde L
Dan Med J 2015 Nov;62(11):A5082. PMID: 26522484
Current management of gestational trophoblastic diseases.
Berkowitz RS, Goldstein DP
Gynecol Oncol 2009 Mar;112(3):654-62. Epub 2008 Oct 12 doi: 10.1016/j.ygyno.2008.09.005. PMID: 18851873

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Gestational Trophoblastic Neoplasia, 2022

Recent clinical studies

Etiology

Clinical and genetic-epignetic aspects of recurrent hydatidiform mole: A review of literature.
Moein-Vaziri N, Fallahi J, Namavar-Jahromi B, Fardaei M, Momtahan M, Anvar Z
Taiwan J Obstet Gynecol 2018 Feb;57(1):1-6. doi: 10.1016/j.tjog.2017.12.001. PMID: 29458875
Reproductive outcomes after hydatiform mole and gestational trophoblastic neoplasia.
Gadducci A, Lanfredini N, Cosio S
Gynecol Endocrinol 2015;31(9):673-8. Epub 2015 Aug 18 doi: 10.3109/09513590.2015.1054803. PMID: 26288335
Recurrent hydatidiform moles.
Williams D, Hodgetts V, Gupta J
Eur J Obstet Gynecol Reprod Biol 2010 May;150(1):3-7. Epub 2010 Feb 19 doi: 10.1016/j.ejogrb.2010.01.003. PMID: 20171777
Postmolar contraception.
Pandiyan N, Jequier AM
Obstet Gynecol Surv 1988 May;43(5):258-62. PMID: 3287245
Gestational trophoblastic tumors.
Rustin GJ, Bagshawe KD
Crit Rev Oncol Hematol 1985;3(2):103-42. doi: 10.1016/s1040-8428(85)80022-6. PMID: 2992827

Diagnosis

Gynecologic cancer in pregnancy.
Korenaga TK, Tewari KS
Gynecol Oncol 2020 Jun;157(3):799-809. Epub 2020 Apr 5 doi: 10.1016/j.ygyno.2020.03.015. PMID: 32268951Free PMC Article
Recurrent hydatidiform moles.
Williams D, Hodgetts V, Gupta J
Eur J Obstet Gynecol Reprod Biol 2010 May;150(1):3-7. Epub 2010 Feb 19 doi: 10.1016/j.ejogrb.2010.01.003. PMID: 20171777
Current management of gestational trophoblastic diseases.
Berkowitz RS, Goldstein DP
Gynecol Oncol 2009 Mar;112(3):654-62. Epub 2008 Oct 12 doi: 10.1016/j.ygyno.2008.09.005. PMID: 18851873
Genomic imprinting in gestational trophoblastic disease--a review.
Fisher RA, Hodges MD
Placenta 2003 Apr;24 Suppl A:S111-8. doi: 10.1053/plac.2002.0939. PMID: 12842422
Postmolar contraception.
Pandiyan N, Jequier AM
Obstet Gynecol Surv 1988 May;43(5):258-62. PMID: 3287245

Therapy

Treatments and outcomes in high-risk gestational trophoblastic neoplasia: A systematic review and meta-analysis.
Albright BB, Ellett T, Knochenhauer HE, Goins EC, Monuszko KA, Kaplan SJ, Previs RA, Moss HA, Havrilesky LJ, Davidson BA
BJOG 2023 Apr;130(5):443-453. Epub 2023 Jan 25 doi: 10.1111/1471-0528.17374. PMID: 36648416Free PMC Article
Reproductive outcomes after hydatiform mole and gestational trophoblastic neoplasia.
Gadducci A, Lanfredini N, Cosio S
Gynecol Endocrinol 2015;31(9):673-8. Epub 2015 Aug 18 doi: 10.3109/09513590.2015.1054803. PMID: 26288335
Gestational trophoblastic disease.
Tse KY, Ngan HY
Best Pract Res Clin Obstet Gynaecol 2012 Jun;26(3):357-70. Epub 2012 Jan 28 doi: 10.1016/j.bpobgyn.2011.11.009. PMID: 22285526
Advances in the epidemiology of gestational trophoblastic disease.
Palmer JR
J Reprod Med 1994 Mar;39(3):155-62. PMID: 8035370
Gestational trophoblastic tumors.
Rustin GJ, Bagshawe KD
Crit Rev Oncol Hematol 1985;3(2):103-42. doi: 10.1016/s1040-8428(85)80022-6. PMID: 2992827

Prognosis

Gynecologic cancer in pregnancy.
Korenaga TK, Tewari KS
Gynecol Oncol 2020 Jun;157(3):799-809. Epub 2020 Apr 5 doi: 10.1016/j.ygyno.2020.03.015. PMID: 32268951Free PMC Article
Reproductive outcomes after hydatiform mole and gestational trophoblastic neoplasia.
Gadducci A, Lanfredini N, Cosio S
Gynecol Endocrinol 2015;31(9):673-8. Epub 2015 Aug 18 doi: 10.3109/09513590.2015.1054803. PMID: 26288335
Gestational trophoblastic disease.
Tse KY, Ngan HY
Best Pract Res Clin Obstet Gynaecol 2012 Jun;26(3):357-70. Epub 2012 Jan 28 doi: 10.1016/j.bpobgyn.2011.11.009. PMID: 22285526
Postmolar contraception.
Pandiyan N, Jequier AM
Obstet Gynecol Surv 1988 May;43(5):258-62. PMID: 3287245
Gestational trophoblastic tumors.
Rustin GJ, Bagshawe KD
Crit Rev Oncol Hematol 1985;3(2):103-42. doi: 10.1016/s1040-8428(85)80022-6. PMID: 2992827

Clinical prediction guides

Treatments and outcomes in high-risk gestational trophoblastic neoplasia: A systematic review and meta-analysis.
Albright BB, Ellett T, Knochenhauer HE, Goins EC, Monuszko KA, Kaplan SJ, Previs RA, Moss HA, Havrilesky LJ, Davidson BA
BJOG 2023 Apr;130(5):443-453. Epub 2023 Jan 25 doi: 10.1111/1471-0528.17374. PMID: 36648416Free PMC Article
KH domain containing 3 like (KHDC3L) frame-shift mutation causes both recurrent pregnancy loss and hydatidiform mole.
Fatemi N, Ray PF, Ramezanali F, Shahani T, Amiri-Yekta A, Kherraf ZE, Cazin C, Almadani N, Varkiani M, Sarmadi S, Sodeifi N, Gourabi H, Biglari A, Totonchi M
Eur J Obstet Gynecol Reprod Biol 2021 Apr;259:100-104. Epub 2021 Feb 10 doi: 10.1016/j.ejogrb.2021.02.006. PMID: 33639414
Obstetrics outcomes after complete and partial molar pregnancy: Review of the literature and meta-analysis.
Capozzi VA, Butera D, Armano G, Monfardini L, Gaiano M, Gambino G, Sozzi G, Merisio C, Berretta R
Eur J Obstet Gynecol Reprod Biol 2021 Apr;259:18-25. Epub 2021 Jan 29 doi: 10.1016/j.ejogrb.2021.01.051. PMID: 33550107
Late spontaneous resolution of persistent molar pregnancy.
Taylor F, Short D, Harvey R, Winter MC, Tidy J, Hancock BW, Savage PM, Sarwar N, Seckl MJ, Coleman RE
BJOG 2016 Jun;123(7):1175-81. Epub 2016 Jan 15 doi: 10.1111/1471-0528.13867. PMID: 26774079
The p.L750V mutation in the NLRP7 gene is frequent in Mexican patients with recurrent molar pregnancies and is not associated with recurrent pregnancy loss.
Estrada H, Buentello B, Zenteno JC, Fiszman R, Aguinaga M
Prenat Diagn 2013 Mar;33(3):205-8. Epub 2013 Jan 28 doi: 10.1002/pd.4036. PMID: 23354651

Recent systematic reviews

Treatments and outcomes in high-risk gestational trophoblastic neoplasia: A systematic review and meta-analysis.
Albright BB, Ellett T, Knochenhauer HE, Goins EC, Monuszko KA, Kaplan SJ, Previs RA, Moss HA, Havrilesky LJ, Davidson BA
BJOG 2023 Apr;130(5):443-453. Epub 2023 Jan 25 doi: 10.1111/1471-0528.17374. PMID: 36648416Free PMC Article
The role of oxidative stress in spontaneous abortion and recurrent pregnancy loss: a systematic review.
Gupta S, Agarwal A, Banerjee J, Alvarez JG
Obstet Gynecol Surv 2007 May;62(5):335-47; quiz 353-4. doi: 10.1097/01.ogx.0000261644.89300.df. PMID: 17425812

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NCCN, 2022
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Gestational Trophoblastic Neoplasia, 2022

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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