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Hydatidiform mole, recurrent, 2(HYDM2)

MedGen UID:
481982
Concept ID:
C3280352
Disease or Syndrome
Synonym: HYDM2
 
Gene (location): KHDC3L (6q13)
 
Monarch Initiative: MONDO:0013671
OMIM®: 614293

Definition

A hydatidiform mole is an abnormal pregnancy characterized by hydropic placental villi, trophoblastic hyperplasia, and poor fetal development. Familial recurrent hydatidiform mole is an autosomal recessive condition in which women experience recurrent pregnancy losses, predominantly complete hydatidiform mole (CHM). However, unlike sporadic CHMs, which are androgenetic with 2 paternal chromosome complements, CHMs associated with familial recurrence are genetically biparental in origin with both a maternal and a paternal contribution to the genome. Other pregnancy losses in this condition include partial hydatidiform mole, stillbirths, ectopic pregnancies, early neonatal deaths, and miscarriages, some of which may be undiagnosed molar pregnancies. Normal pregnancies are extremely rare in families with this condition (summary by Fallahian et al., 2013). For a discussion of genetic heterogeneity of recurrent hydatidiform mole, see HYDM1 (231090). [from OMIM]

Additional description

From MedlinePlus Genetics
Recurrent hydatidiform mole is a condition that affects women and is characterized by the occurrence of at least two abnormal pregnancies that result in the formation of hydatidiform moles. A hydatidiform mole is a mass that forms early in pregnancy and is made up of cells from an abnormally developed embryo and placenta. Normally, the embryo would develop into a fetus and the placenta would grow to provide nutrients to the growing fetus. When a hydatidiform mole occurs once, it is known as sporadic hydatidiform mole; if it happens again, the condition is known as recurrent hydatidiform mole.

The first symptom of a hydatidiform mole is often vaginal bleeding in the first trimester of pregnancy. During an ultrasound examination, the abnormal placenta appears as numerous small sacs, often described as resembling a bunch of grapes.

Hydatidiform moles are not naturally discharged from the body and must be surgically removed, typically by the end of the first trimester. After removal, there is up to a 20 percent risk that any tissue left behind will continue to grow and become a cancerous (malignant) tumor called a persistent mole. If the tumor invades the surrounding tissue of the uterus, it is called an invasive mole. In rare cases, this malignant tumor can transform into a different form of cancer called gestational choriocarcinoma that can spread (metastasize) to other tissues such as the liver, lungs, or brain.  https://medlineplus.gov/genetics/condition/recurrent-hydatidiform-mole

Clinical features

From HPO
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

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
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
Zhou Q, Lei XY, Xie Q, Cardoza JD
J Ultrasound Med 2005 Jan;24(1):15-24. doi: 10.7863/jum.2005.24.1.15. PMID: 15615924

Curated

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

Suggested Reading

PubMed

Nguyen NM, Slim R
Curr Obstet Gynecol Rep 2014;3(1):55-64. Epub 2014 Jan 21 doi: 10.1007/s13669-013-0076-1. PMID: 24533231Free PMC Article

Recent clinical studies

Etiology

Chawla T, Bouchard-Fortier G, Turashvili G, Osborne R, Hack K, Glanc P
Abdom Radiol (NY) 2023 May;48(5):1793-1815. Epub 2023 Feb 10 doi: 10.1007/s00261-023-03820-5. PMID: 36763119
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
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
Pandiyan N, Jequier AM
Obstet Gynecol Surv 1988 May;43(5):258-62. PMID: 3287245
Rustin GJ, Bagshawe KD
Crit Rev Oncol Hematol 1985;3(2):103-42. doi: 10.1016/s1040-8428(85)80022-6. PMID: 2992827

Diagnosis

Chawla T, Bouchard-Fortier G, Turashvili G, Osborne R, Hack K, Glanc P
Abdom Radiol (NY) 2023 May;48(5):1793-1815. Epub 2023 Feb 10 doi: 10.1007/s00261-023-03820-5. PMID: 36763119
Kayastha S , Shah L , Mainali S
Kathmandu Univ Med J (KUMJ) 2021 Jul-Sept.;19(75):305-308. PMID: 36254414
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
Mangili G, Bergamini A, Giorgione V, Picchio M, Petrone M, Mapelli P, Rabaiotti E, Incerti E, Candiani M
Q J Nucl Med Mol Imaging 2016 Jun;60(2):103-16. Epub 2016 Feb 11 PMID: 26868372
Pandiyan N, Jequier AM
Obstet Gynecol Surv 1988 May;43(5):258-62. PMID: 3287245

Therapy

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
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
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
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
Rustin GJ, Bagshawe KD
Crit Rev Oncol Hematol 1985;3(2):103-42. doi: 10.1016/s1040-8428(85)80022-6. PMID: 2992827

Prognosis

Chawla T, Bouchard-Fortier G, Turashvili G, Osborne R, Hack K, Glanc P
Abdom Radiol (NY) 2023 May;48(5):1793-1815. Epub 2023 Feb 10 doi: 10.1007/s00261-023-03820-5. PMID: 36763119
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
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
Pandiyan N, Jequier AM
Obstet Gynecol Surv 1988 May;43(5):258-62. PMID: 3287245
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

Chawla T, Bouchard-Fortier G, Turashvili G, Osborne R, Hack K, Glanc P
Abdom Radiol (NY) 2023 May;48(5):1793-1815. Epub 2023 Feb 10 doi: 10.1007/s00261-023-03820-5. PMID: 36763119
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
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
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

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

Supplemental Content

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    • PubMed
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      See practice and clinical guidelines in NCBI Bookshelf. 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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