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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.
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.

Professional guidelines

PubMed

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
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
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

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
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
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
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
Fisher RA, Hodges MD, Newlands ES
J Reprod Med 2004 Aug;49(8):595-601. PMID: 15457849

Diagnosis

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
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
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
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
Fisher RA, Hodges MD, Newlands ES
J Reprod Med 2004 Aug;49(8):595-601. PMID: 15457849

Therapy

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
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
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
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
Kim SJ, Na YJ, Jung SG, Kim CJ, Bae SN, Lee C
J Reprod Med 2007 Sep;52(9):819-30. PMID: 17939600

Prognosis

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
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
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
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
Fisher RA, Hodges MD, Newlands ES
J Reprod Med 2004 Aug;49(8):595-601. PMID: 15457849

Clinical prediction guides

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
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
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
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
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

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
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

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

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