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Hydatidiform mole, recurrent, 1(HYDM1)

MedGen UID:
483038
Concept ID:
C3463897
Disease or Syndrome
Synonyms: Gestational trophoblastic neoplasia; HYDM1
 
Gene (location): NLRP7 (19q13.42)
 
Monarch Initiative: MONDO:0009273
OMIM®: 231090

Definition

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.

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.

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. [from MedlinePlus Genetics]

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

Ngan HYS, Seckl MJ, Berkowitz RS, Xiang Y, Golfier F, Sekharan PK, Lurain JR, Massuger L
Int J Gynaecol Obstet 2021 Oct;155 Suppl 1(Suppl 1):86-93. doi: 10.1002/ijgo.13877. PMID: 34669197Free PMC Article
Eiriksson L, Dean E, Sebastianelli A, Salvador S, Comeau R, Jang JH, Bouchard-Fortier G, Osborne R, Sauthier P
J Obstet Gynaecol Can 2021 Jan;43(1):91-105.e1. doi: 10.1016/j.jogc.2020.03.001. PMID: 33384141
Ngan HYS, Seckl MJ, Berkowitz RS, Xiang Y, Golfier F, Sekharan PK, Lurain JR, Massuger L
Int J Gynaecol Obstet 2018 Oct;143 Suppl 2:79-85. doi: 10.1002/ijgo.12615. PMID: 30306586

Curated

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

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

Ngan HYS, Seckl MJ, Berkowitz RS, Xiang Y, Golfier F, Sekharan PK, Lurain JR, Massuger L
Int J Gynaecol Obstet 2021 Oct;155 Suppl 1(Suppl 1):86-93. doi: 10.1002/ijgo.13877. PMID: 34669197Free 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
Eiriksson L, Dean E, Sebastianelli A, Salvador S, Comeau R, Jang JH, Bouchard-Fortier G, Osborne R, Sauthier P
J Obstet Gynaecol Can 2021 Jan;43(1):91-105.e1. doi: 10.1016/j.jogc.2020.03.001. PMID: 33384141
Ngan HYS, Seckl MJ, Berkowitz RS, Xiang Y, Golfier F, Sekharan PK, Lurain JR, Massuger L
Int J Gynaecol Obstet 2018 Oct;143 Suppl 2:79-85. doi: 10.1002/ijgo.12615. PMID: 30306586
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

Diagnosis

Ngan HYS, Seckl MJ, Berkowitz RS, Xiang Y, Golfier F, Sekharan PK, Lurain JR, Massuger L
Int J Gynaecol Obstet 2021 Oct;155 Suppl 1(Suppl 1):86-93. doi: 10.1002/ijgo.13877. PMID: 34669197Free 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
Eiriksson L, Dean E, Sebastianelli A, Salvador S, Comeau R, Jang JH, Bouchard-Fortier G, Osborne R, Sauthier P
J Obstet Gynaecol Can 2021 Jan;43(1):91-105.e1. doi: 10.1016/j.jogc.2020.03.001. PMID: 33384141
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
Ngan HYS, Seckl MJ, Berkowitz RS, Xiang Y, Golfier F, Sekharan PK, Lurain JR, Massuger L
Int J Gynaecol Obstet 2018 Oct;143 Suppl 2:79-85. doi: 10.1002/ijgo.12615. PMID: 30306586

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
Ngan HYS, Seckl MJ, Berkowitz RS, Xiang Y, Golfier F, Sekharan PK, Lurain JR, Massuger L
Int J Gynaecol Obstet 2021 Oct;155 Suppl 1(Suppl 1):86-93. doi: 10.1002/ijgo.13877. PMID: 34669197Free PMC Article
Eiriksson L, Dean E, Sebastianelli A, Salvador S, Comeau R, Jang JH, Bouchard-Fortier G, Osborne R, Sauthier P
J Obstet Gynaecol Can 2021 Jan;43(1):91-105.e1. doi: 10.1016/j.jogc.2020.03.001. PMID: 33384141
Mestman JH
Endocrinol Metab Clin North Am 1998 Mar;27(1):127-49. doi: 10.1016/s0889-8529(05)70303-0. PMID: 9534033
Palmer JR
J Reprod Med 1994 Mar;39(3):155-62. PMID: 8035370

Prognosis

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
Eiriksson L, Dean E, Sebastianelli A, Salvador S, Comeau R, Jang JH, Bouchard-Fortier G, Osborne R, Sauthier P
J Obstet Gynaecol Can 2021 Jan;43(1):91-105.e1. doi: 10.1016/j.jogc.2020.03.001. PMID: 33384141
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
Ngan HYS, Seckl MJ, Berkowitz RS, Xiang Y, Golfier F, Sekharan PK, Lurain JR, Massuger L
Int J Gynaecol Obstet 2018 Oct;143 Suppl 2:79-85. doi: 10.1002/ijgo.12615. PMID: 30306586
Pandiyan N, Jequier AM
Obstet Gynecol Surv 1988 May;43(5):258-62. PMID: 3287245

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
Ngan HYS, Seckl MJ, Berkowitz RS, Xiang Y, Golfier F, Sekharan PK, Lurain JR, Massuger L
Int J Gynaecol Obstet 2021 Oct;155 Suppl 1(Suppl 1):86-93. doi: 10.1002/ijgo.13877. PMID: 34669197Free 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
Eiriksson L, Dean E, Sebastianelli A, Salvador S, Comeau R, Jang JH, Bouchard-Fortier G, Osborne R, Sauthier P
J Obstet Gynaecol Can 2021 Jan;43(1):91-105.e1. doi: 10.1016/j.jogc.2020.03.001. PMID: 33384141
Ngan HYS, Seckl MJ, Berkowitz RS, Xiang Y, Golfier F, Sekharan PK, Lurain JR, Massuger L
Int J Gynaecol Obstet 2018 Oct;143 Suppl 2:79-85. doi: 10.1002/ijgo.12615. PMID: 30306586

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

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

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