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Hydatidiform mole, recurrent, 4(HYDM4)

MedGen UID:
1677210
•Concept ID:
C5193094
•
Disease or Syndrome
Synonyms: HYDATIDIFORM MOLE, RECURRENT, 4; HYDM4
 
Gene (location): TOP6BL (11q13.2)
 
Monarch Initiative: MONDO:0032747
OMIM®: 618432

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

Application of next-generation sequencing to preimplantation genetic testing for recurrent hydatidiform mole patients.
Yang J, Yan Z, Liu Y, Zhu X, Li R, Liu P, Yan L, Qiao J, Zhi X
J Assist Reprod Genet 2021 Nov;38(11):2881-2891. Epub 2021 Oct 4 doi: 10.1007/s10815-021-02325-8. PMID: 34608573Free PMC Article
Diagnosis and Management of Gestational Trophoblastic Disease: A Comparative Review of National and International Guidelines.
Tsakiridis I, Giouleka S, Kalogiannidis I, Mamopoulos A, Athanasiadis A, Dagklis T
Obstet Gynecol Surv 2020 Dec;75(12):747-756. doi: 10.1097/OGX.0000000000000848. PMID: 33369685
Management of high-risk hydatidiform mole and persistent gestational trophoblastic neoplasia: the Korean experience.
Kim SJ, Na YJ, Jung SG, Kim CJ, Bae SN, Lee C
J Reprod Med 2007 Sep;52(9):819-30. PMID: 17939600

Curated

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

Recent clinical studies

Etiology

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
Triploid pregnancy-Clinical implications.
Massalska D, Bijok J, Kucińska-Chahwan A, Zimowski JG, Ozdarska K, Panek G, Roszkowski T
Clin Genet 2021 Oct;100(4):368-375. Epub 2021 Jun 1 doi: 10.1111/cge.14003. PMID: 34031868
Risk of recurrent molar pregnancies following complete and partial hydatidiform moles.
Eagles N, Sebire NJ, Short D, Savage PM, Seckl MJ, Fisher RA
Hum Reprod 2015 Sep;30(9):2055-63. Epub 2015 Jul 22 doi: 10.1093/humrep/dev169. PMID: 26202916
Familial recurrent hydatidiform mole: a review.
Fisher RA, Hodges MD, Newlands ES
J Reprod Med 2004 Aug;49(8):595-601. PMID: 15457849
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

Diagnosis

Application of next-generation sequencing to preimplantation genetic testing for recurrent hydatidiform mole patients.
Yang J, Yan Z, Liu Y, Zhu X, Li R, Liu P, Yan L, Qiao J, Zhi X
J Assist Reprod Genet 2021 Nov;38(11):2881-2891. Epub 2021 Oct 4 doi: 10.1007/s10815-021-02325-8. PMID: 34608573Free PMC Article
Triploid pregnancy-Clinical implications.
Massalska D, Bijok J, Kucińska-Chahwan A, Zimowski JG, Ozdarska K, Panek G, Roszkowski T
Clin Genet 2021 Oct;100(4):368-375. Epub 2021 Jun 1 doi: 10.1111/cge.14003. PMID: 34031868
Diagnosis and Management of Gestational Trophoblastic Disease: A Comparative Review of National and International Guidelines.
Tsakiridis I, Giouleka S, Kalogiannidis I, Mamopoulos A, Athanasiadis A, Dagklis T
Obstet Gynecol Surv 2020 Dec;75(12):747-756. doi: 10.1097/OGX.0000000000000848. PMID: 33369685
Radiology of gestational trophoblastic neoplasia.
Allen SD, Lim AK, Seckl MJ, Blunt DM, Mitchell AW
Clin Radiol 2006 Apr;61(4):301-13. doi: 10.1016/j.crad.2005.12.003. PMID: 16546459
Familial recurrent hydatidiform mole: a review.
Fisher RA, Hodges MD, Newlands ES
J Reprod Med 2004 Aug;49(8):595-601. PMID: 15457849

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
Hydatidiform molar pregnancy following assisted reproduction.
Nickkho-Amiry M, Horne G, Akhtar M, Mathur R, Brison DR
J Assist Reprod Genet 2019 Apr;36(4):667-671. Epub 2019 Jan 5 doi: 10.1007/s10815-018-1389-9. PMID: 30612209Free PMC Article
Invasive mole in a perimenopausal woman: a case report and systematic review.
von Welser SF, Grube M, Ortmann O
Arch Gynecol Obstet 2015 Dec;292(6):1193-9. Epub 2015 Jun 7 doi: 10.1007/s00404-015-3777-z. PMID: 26050078
Gestational trophoblastic neoplasia after achieving a nondetectable serum human chorionic gonadotrophin level.
Gueye M, Kane-Gueye SM, Ndiaye-Gueye MD, Mbaye M, Diouf AA, Niang MM, Diallo M, Moreau JC
BJOG 2014 Oct;121(11):1415-9. Epub 2014 Mar 28 doi: 10.1111/1471-0528.12742. PMID: 24674295
Management of high-risk hydatidiform mole and persistent gestational trophoblastic neoplasia: the Korean experience.
Kim SJ, Na YJ, Jung SG, Kim CJ, Bae SN, Lee C
J Reprod Med 2007 Sep;52(9):819-30. PMID: 17939600

Prognosis

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
Triploid pregnancy-Clinical implications.
Massalska D, Bijok J, Kucińska-Chahwan A, Zimowski JG, Ozdarska K, Panek G, Roszkowski T
Clin Genet 2021 Oct;100(4):368-375. Epub 2021 Jun 1 doi: 10.1111/cge.14003. PMID: 34031868
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
Radiology of gestational trophoblastic neoplasia.
Allen SD, Lim AK, Seckl MJ, Blunt DM, Mitchell AW
Clin Radiol 2006 Apr;61(4):301-13. doi: 10.1016/j.crad.2005.12.003. PMID: 16546459
Familial recurrent hydatidiform mole: a review.
Fisher RA, Hodges MD, Newlands ES
J Reprod Med 2004 Aug;49(8):595-601. PMID: 15457849

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
The genomic basis of sporadic and recurrent pregnancy loss: a comprehensive in-depth analysis of 24,900 miscarriages.
Finley J, Hay S, Oldzej J, Meredith MM, Dzidic N, Slim R, Aradhya S, Hovanes K, Sahoo T
Reprod Biomed Online 2022 Jul;45(1):125-134. Epub 2022 Mar 23 doi: 10.1016/j.rbmo.2022.03.014. PMID: 35523710
Triploid pregnancy-Clinical implications.
Massalska D, Bijok J, Kucińska-Chahwan A, Zimowski JG, Ozdarska K, Panek G, Roszkowski T
Clin Genet 2021 Oct;100(4):368-375. Epub 2021 Jun 1 doi: 10.1111/cge.14003. PMID: 34031868
Diagnosis and Management of Gestational Trophoblastic Disease: A Comparative Review of National and International Guidelines.
Tsakiridis I, Giouleka S, Kalogiannidis I, Mamopoulos A, Athanasiadis A, Dagklis T
Obstet Gynecol Surv 2020 Dec;75(12):747-756. doi: 10.1097/OGX.0000000000000848. PMID: 33369685
Radiology of gestational trophoblastic neoplasia.
Allen SD, Lim AK, Seckl MJ, Blunt DM, Mitchell AW
Clin Radiol 2006 Apr;61(4):301-13. doi: 10.1016/j.crad.2005.12.003. PMID: 16546459

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
Invasive mole in a perimenopausal woman: a case report and systematic review.
von Welser SF, Grube M, Ortmann O
Arch Gynecol Obstet 2015 Dec;292(6):1193-9. Epub 2015 Jun 7 doi: 10.1007/s00404-015-3777-z. PMID: 26050078

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    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
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