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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

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
Comparison of 5-day MTX and 5-day ETP treatment results and early predictors of drug resistance to 5-day MTX in patients with post-molar low-risk gestational trophoblastic neoplasia.
Kizaki S, Hashimoto K, Matsui H, Usui H, Shozu M
Gynecol Oncol 2015 Dec;139(3):429-32. Epub 2015 Oct 9 doi: 10.1016/j.ygyno.2015.10.007. PMID: 26456138
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, 2023

Recent clinical studies

Etiology

When to Consult a Geneticist Specialising in Gestational Trophoblastic Disease.
McMahon L, Maher GJ, Joyce C, Niemann I, Fisher R, Sunde L
Gynecol Obstet Invest 2024;89(3):198-213. Epub 2023 May 26 doi: 10.1159/000531218. PMID: 37245506
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
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
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

Diagnosis

Recurrent choriocarcinoma complicated with leprosy during chemotherapy: A case report and literature review.
Hu S, Lin X, Yin R, Wang W, Li Q
Medicine (Baltimore) 2023 Aug 11;102(32):e34548. doi: 10.1097/MD.0000000000034548. PMID: 37565881Free PMC Article
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
Biparental hydatidiform moles: a maternal effect mutation affecting imprinting in the offspring.
Van den Veyver IB, Al-Hussaini TK
Hum Reprod Update 2006 May-Jun;12(3):233-42. Epub 2006 Mar 15 doi: 10.1093/humupd/dmk005. PMID: 16540529
Postmolar contraception.
Pandiyan N, Jequier AM
Obstet Gynecol Surv 1988 May;43(5):258-62. PMID: 3287245

Therapy

Recurrent choriocarcinoma complicated with leprosy during chemotherapy: A case report and literature review.
Hu S, Lin X, Yin R, Wang W, Li Q
Medicine (Baltimore) 2023 Aug 11;102(32):e34548. doi: 10.1097/MD.0000000000034548. PMID: 37565881Free PMC Article
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
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
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
Clinical aspects of gestational trophoblastic disease: a review based partly on 25-year experience of a statewide registry.
Khoo SK
Aust N Z J Obstet Gynaecol 2003 Aug;43(4):280-9. doi: 10.1046/j.0004-8666.2003.00091.x. PMID: 14714712

Prognosis

When to Consult a Geneticist Specialising in Gestational Trophoblastic Disease.
McMahon L, Maher GJ, Joyce C, Niemann I, Fisher R, Sunde L
Gynecol Obstet Invest 2024;89(3):198-213. Epub 2023 May 26 doi: 10.1159/000531218. PMID: 37245506
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
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
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
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

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, 2023
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Gestational Trophoblastic Neoplasia, 2023

    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
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      Related literature resources in PubMed
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      Related literature resources in PubMed

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