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Cell Adhesion & Migration Mar 2016The hydatidiform mole (HM) is a placental pathology of androgenetic origin. Placental villi have an abnormal hyperproliferation event and hydropic degeneration. Three... (Review)
Review
The hydatidiform mole (HM) is a placental pathology of androgenetic origin. Placental villi have an abnormal hyperproliferation event and hydropic degeneration. Three situations can be envisaged at its origin: 1. The destruction/expulsion of the female pronucleus at the time of fertilization by 1 or 2 spermatozoa with the former being followed by an endoreplication of the male pronucleus leading to a complete hydatidiform mole (CHM) 2. A triploid zygote (fertilization by 2 spermatozoa) leading to a partial hydatidiform mole (PHM) but can also lead to haploid and diploid clones. The diploid clone may produce a normal fetus while the haploid clone after endoreplication generates a CHM 3. A nutritional defect during the differentiation of the oocytes or the deterioration of the limited oxygen pressure during the first trimester of gestation may lead to the formation of a HM. In countries with poor medical health care system, moles (mainly the CHM) can become invasive or, in rare cases, lead to gestational choriocarcinomas.
Topics: Cytogenetics; Epigenesis, Genetic; Female; Humans; Hydatidiform Mole; Pregnancy
PubMed: 26421650
DOI: 10.1080/19336918.2015.1093275 -
Radiology and Oncology Dec 2022Gestational trophoblastic disease (GTD) is a heterogeneous group of rare tumours characterised by abnormal proliferation of trophoblastic tissue. It consists of benign... (Review)
Review
BACKGROUND
Gestational trophoblastic disease (GTD) is a heterogeneous group of rare tumours characterised by abnormal proliferation of trophoblastic tissue. It consists of benign or premalignant conditions, such as complete and partial molar pregnancy and variants of malignant diseases. The malignant tumours specifically are commonly referred to as gestational trophoblastic neoplasia (GTN). They consist of invasive mole, choriocarcinoma, placental-site trophoblastic tumour (PSTT) and epithelioid trophoblastic tumour (ETT).
CONCLUSIONS
Patients with GTD are often asymptomatic, although vaginal bleeding is a common presenting symptom. With the advances in ultrasound imaging in early pregnancy, the diagnosis of molar pregnancy is most commonly made in the first trimester of pregnancy. Sometimes, additional imaging such as chest X-ray, CT or MRI can help detect metastatic disease. Most women can be cured, and their reproductive function can be preserved. In this review, we focus on the advances in management strategies for gestational trophoblastic disease as well as possible future research directions.
Topics: Female; Humans; Pregnancy; Placenta; Gestational Trophoblastic Disease; Hydatidiform Mole; Magnetic Resonance Imaging; Uterine Neoplasms
PubMed: 36286620
DOI: 10.2478/raon-2022-0038 -
American Journal of Reproductive... Nov 2020The emergence of coronavirus disease 2019 (COVID-19) as a pandemic threatens the entire world resulting in severe consequences for people's health. Pregnant patients... (Review)
Review
The emergence of coronavirus disease 2019 (COVID-19) as a pandemic threatens the entire world resulting in severe consequences for people's health. Pregnant patients with COVID-19 had immune dysregulation that could result in abnormal pregnancy outcomes such as hydatidiform mole (HM), recurrent pregnancy loss, and early-onset preeclampsia. In this article, we tried to summarize the possible association between COVID-19 and the HM's development by reviewing the role of NOD-Like Receptor (NLR) Family Pyrin Domain Containing 7 (NLRP7), cytokines, zinc, and leukocytes in the pathogenesis of HM.
Topics: Adaptor Proteins, Signal Transducing; COVID-19; Cytokines; Female; Humans; Hydatidiform Mole; Leukocytes; Pandemics; Pregnancy; Pregnancy Complications, Infectious; Pregnancy Outcome; SARS-CoV-2
PubMed: 32698238
DOI: 10.1111/aji.13310 -
Best Practice & Research. Clinical... Jul 2021Gestational trophoblastic disease (GTD) consists of a spectrum of diseases, including hydatidiform moles, invasive mole, metastatic mole, choriocarcinoma, placental site... (Review)
Review
Gestational trophoblastic disease (GTD) consists of a spectrum of diseases, including hydatidiform moles, invasive mole, metastatic mole, choriocarcinoma, placental site trophoblastic tumour (PSTT) and epithelioid trophoblastic tumour (ETT). GTD is a relatively uncommon disease occurring in women of reproductive age, with high cure rates. Primary treatment of hydatidiform moles includes uterine evacuation, followed by close monitoring of serial hCG levels to detect for post-molar gestational trophoblastic neoplasia (GTN). In patients with GTN, the main therapy consists of chemotherapy, although some surgical procedures are important in selected patients to achieve curing. Hysterectomy is the mainstay treatment for PSTT or ETT and may be considered in selected patients for management of hydatidiform mole and malignant GTN especially in chemoresistant disease. Resection of metastatic lesions such as in the lung or brain can be considered in selected patients with isolated chemoresistant tumour. Surgical treatment of GTD will be discussed in this chapter.
Topics: Choriocarcinoma; Female; Gestational Trophoblastic Disease; Humans; Hydatidiform Mole; Placenta; Pregnancy; Uterine Neoplasms
PubMed: 33127305
DOI: 10.1016/j.bpobgyn.2020.10.005 -
Medecine Sciences : M/S Oct 2015"The battle of the sexes begins in the zygote" W. Reik and J. Walter. Complete hydatidiform mole (CHM) is a pathology of the placenta with androgenetic diploid origin... (Review)
Review
"The battle of the sexes begins in the zygote" W. Reik and J. Walter. Complete hydatidiform mole (CHM) is a pathology of the placenta with androgenetic diploid origin (chromosomes only from paternal origin). Placental villi present an abnormal hyperproliferation and hydropic degeneration associated with the absence of embryo. Three mechanisms can be envisaged at its origin: (1) destruction/expulsion of the female pronucleus at the time of fertilization by one or two spermatozoa, the former being followed by an endoreplication of the male pronucleus (homozygous mole), (2) a triploid zygote (fertilization by two spermatozoa) leading to a haploid and a diploid clones. The diploid clone may produce a normal fetus while the haploid clone, after endoreplication, generates a complete hydatidiform mole, (3) a nutritional defect during the differentiation of the oocytes of the female embryo that will affect the integrity and maturity of her oocytes during her adult life and lead to hydatidiform mole. In countries with a poor medical health care system, moles can be invasive or, in rare cases, lead to gestational choriocarcinomas.
Topics: Adult; Epigenesis, Genetic; Female; Humans; Hydatidiform Mole; Incidence; Male; Placenta; Pregnancy; Uterine Neoplasms
PubMed: 26481025
DOI: 10.1051/medsci/20153110012 -
Taiwanese Journal of Obstetrics &... Feb 2018Hydatidiform Mole (HM) is the most common form of Gestational Trophoblastic Disease (GTD), defined by hyper-proliferation of trophoblastic cells. HM is typified as... (Review)
Review
Hydatidiform Mole (HM) is the most common form of Gestational Trophoblastic Disease (GTD), defined by hyper-proliferation of trophoblastic cells. HM is typified as abnormal proliferation of extraembryonic trophoblastic (placental) tissues and failure of embryonic tissues development and is the only GTD with Mendelian inheritance, which can reoccur in different pregnancies. Moles are categorized into Complete Hydatidiform Moles (CHM) or Partial Hydatidiform Moles (PHM) and a rare familial trait, which forms a CHM and despite having androgenetic pattern, shows normal biparental inheritance, conceived from one sperm and egg. Recessive maternal-effect mutations in NLRP7 (NACHT, leucine rich repeat and PYD containing 7) and KHDC3L (KH Domain Containing 3-Like) genes have been shown to be responsible for Recurrent Hydatidiform Moles (HYDM1 MIM# 231090 when is caused by mutation in the NLRP7 gene and HYDM2 MIM#614293 when is caused by mutation in the KHDC3L gene). Methylation aberration in multiple maternally imprinted genes is introduced as the cause of Recurrent HYDM pathology. The current article reviews the histopathology, risk factors, and genetic and epigenetic characteristics of Recurrent HYDMs.
Topics: Adaptor Proteins, Signal Transducing; Epigenomics; Female; Genetic Predisposition to Disease; Humans; Hydatidiform Mole; Mutation; Placenta; Pregnancy; Proteins; Recurrence
PubMed: 29458875
DOI: 10.1016/j.tjog.2017.12.001 -
Taiwanese Journal of Obstetrics &... May 2022To evaluate the obstetrical and oncological progression of twin pregnancies with hydatidiform mole coexisting fetus (HMCF).
OBJECTIVE
To evaluate the obstetrical and oncological progression of twin pregnancies with hydatidiform mole coexisting fetus (HMCF).
MATERIALS AND METHODS
Using a retrospective method based on patients from the Women's Hospital, Zhejiang University School of Medicine database between January 1990 and October 2020, 17 patients were histologically confirmed as having HMCF, and the patients' prenatal diagnosis, outcomes and development of gestational trophoblastic neoplasia (GTN) were reviewed.
RESULTS
Among these 17 cases, 11 (64.71%) cases were complete hydatidiform mole coexisting fetus (CHMCF), and 6 (35.29%) cases were partial hydatidiform mole coexisting fetus (PHMCF). The gestational age at diagnosis of CHMCF was significantly earlier than that of PHMCF [9 (8-24) vs. 18 (11-32) weeks, respectively, P < 0.05]. The live birth rate of PHMCF was slightly higher than that of CHMCF (33.33%; 18.18%), but this difference was not statistically significant. The overall rate of GTN incidence of HMCF was 47.06% (8/17), and the GTN rates of PHMCF and CHMCF were 33.33% (2/6) and 54.55% (6/11), respectively. There was no significant difference in the GTN rate between patients who chose to continue pregnancy and those who terminated pregnancy before 24 weeks of gestation. The GTN rate of patients with term delivery was not significantly higher than that of preterm delivery.
CONCLUSION
In HMCF cases, the incidence rate of CHMCF was higher than that of PHMCF, and PHMCF is more difficult to diagnose in the early stage. Continuing pregnancy does not increase the risk of GTN compared to terminating pregnancy. In cases of HMCF, when the fetal karyotype is normal and maternal complications are controlled, it is safe to continue the pregnancy and extend it to term.
Topics: Female; Fetus; Gestational Trophoblastic Disease; Humans; Hydatidiform Mole; Infant, Newborn; Pregnancy; Pregnancy, Twin; Retrospective Studies; Uterine Neoplasms
PubMed: 35595437
DOI: 10.1016/j.tjog.2022.03.010 -
Archives of Pathology & Laboratory... Dec 2018Distinction of hydatidiform moles from nonmolar specimens and subclassification of hydatidiform moles as complete hydatidiform mole versus partial hydatidiform mole are... (Review)
Review
CONTEXT.—
Distinction of hydatidiform moles from nonmolar specimens and subclassification of hydatidiform moles as complete hydatidiform mole versus partial hydatidiform mole are important for clinical practice and investigational studies. Risk of persistent gestational trophoblastic disease and clinical management differ for these entities. Diagnosis based on morphology is subject to interobserver variability and remains problematic, even for experienced gynecologic pathologists.
OBJECTIVES.—
To explain how ancillary techniques target the unique genetic features of hydatidiform moles to establish diagnostic truth, highlight the issue of diagnostic reproducibility and importance of diagnostic accuracy, and illustrate use of p57 immunohistochemistry and polymerase chain reaction-based DNA genotyping for diagnosis.
DATA SOURCES.—
Sources are the author's 10-year experience using ancillary techniques for the evaluation of potentially molar specimens in a large gynecologic pathology practice and the literature.
CONCLUSIONS.—
The unique genetics of complete hydatidiform moles (purely androgenetic), partial hydatidiform moles (diandric triploid), and nonmolar specimens (biparental, with allelic balance) allow for certain techniques, including immunohistochemical analysis of p57 expression (a paternally imprinted, maternally expressed gene) and genotyping, to refine diagnoses of hydatidiform moles. Although p57 immunostaining alone can identify complete hydatidiform moles, which lack p57 expression because of a lack of maternal DNA, this analysis does not distinguish partial hydatidiform moles from nonmolar specimens because both express p57 because of the presence of maternal DNA. Genotyping, which compares villous and decidual DNA patterns to determine the parental source and ratios of polymorphic alleles, distinguishes purely androgenetic complete hydatidiform moles from diandric triploid partial hydatidiform moles, and both of these from biparental nonmolar specimens. An algorithmic approach to diagnosis using these techniques is advocated.
Topics: Cyclin-Dependent Kinase Inhibitor p57; Female; Genotype; Humans; Hydatidiform Mole; Immunohistochemistry; Observer Variation; Polymerase Chain Reaction; Pregnancy; Reproducibility of Results; Risk; Uterine Neoplasms
PubMed: 30500280
DOI: 10.5858/arpa.2018-0226-RA -
Journal of Forensic Sciences Jul 2020We were presented with the STR (short tandem repeat) profiles from two separate paternity trios. Each trio consisted of a mother, an alleged father, and products of...
We were presented with the STR (short tandem repeat) profiles from two separate paternity trios. Each trio consisted of a mother, an alleged father, and products of conception (POC) that contained a hydatidiform mole but no visible fetus. In both cases, antecedent pregnancies had followed alleged sexual assaults. Mole classification and pathogenesis are described in order to explain the analyses and statistical reasoning used in each case. One mole exhibited several loci with two different paternal alleles, indicating it was a dispermic (heterozygous) mole. Maternal decidua contaminated the POC, preventing the identification of paternal obligate alleles (POAs) at some loci. The other mole exhibited only one paternal allele/locus at all loci and no maternal alleles, indicating it was a diandric and diploid (homozygous) mole. In each case, traditional calculations were used to determine paternity indices (PIs) at loci that exhibited one paternal allele/locus. PIs at mole loci with two different paternal alleles/locus were calculated from formulas first used for child chimeras that are always dispermic. Combined paternity indices in both mole cases strongly supported the paternity of each suspect.
Topics: Alleles; Female; Heterozygote; Homozygote; Humans; Hydatidiform Mole; Likelihood Functions; Male; Microsatellite Repeats; Paternity; Pregnancy; Uterine Neoplasms
PubMed: 31999355
DOI: 10.1111/1556-4029.14291 -
Ugeskrift For Laeger Aug 2019This review summarises the knowledge of recurrent diploid biparental hydatidiform mole, which is a rare genetic condition. Pathogenic variants in both alleles of NLRP7... (Review)
Review
This review summarises the knowledge of recurrent diploid biparental hydatidiform mole, which is a rare genetic condition. Pathogenic variants in both alleles of NLRP7 or KHDC3L are associated with maternal imprinting defects and can cause the condition. Women with biallelic inactivation of NLRP7 can achieve a normal pregnancy by oocyte donation, and it is highly likely, that this applies to women with biallelic inactivation of KHDCL3 as well. Identifying the cause of the recurrent moles can prevent that couples waist time and possibly reduce medical expenses related to fertility treatment.
Topics: Adaptor Proteins, Signal Transducing; Diploidy; Female; Humans; Hydatidiform Mole; Neoplasm Recurrence, Local; Pregnancy; Uterine Neoplasms
PubMed: 31495354
DOI: No ID Found