Difference between revisions of "Talk:Abnormal Development - Hydatidiform Mole"

From Embryology
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==2015==
 
==2015==
 +
 +
===Risk of recurrent molar pregnancies following complete and partial hydatidiform moles===
 +
Hum Reprod. 2015 Jul 22. pii: dev169. [Epub ahead of print]
 +
 +
Eagles N1, Sebire NJ2, Short D1, Savage PM1, Seckl MJ3, Fisher RA4.
 +
 +
Abstract
 +
 +
STUDY QUESTION:
 +
What is the risk of further molar pregnancies for women with one or more hydatidiform moles (HM) in relation to molar subtype.
 +
SUMMARY ANSWER:
 +
Women with a complete hydatidiform mole (CM) have a 1 in 100 and 1 in 4 risk of further CM after one or two consecutive CM, respectively, while women with a partial hydatidiform mole (PM) have only a small increase in risk for further molar pregnancies.
 +
WHAT IS KNOWN ALREADY:
 +
Women with a molar pregnancy have an increased risk of further HM. A small subgroup of women with recurrent HM has an autosomal recessive condition, familial recurrent hydatidiform moles (FRHM), that predisposes them to molar pregnancies.
 +
STUDY DESIGN, SIZE, DURATION:
 +
A retrospective study of subsequent pregnancies in 16 000 women registered at a centralized referral centre, with a CM or PM, between 1990 and 2009.
 +
PARTICIPANTS/MATERIALS, SETTING, METHODS:
 +
One hundred and sixty-six women with two or more molar pregnancies were identified from electronic records and patient notes. Histopathological features of all molar tissue were reviewed in these cases and genotyping performed where diagnosis was not possible on the basis of histopathological features alone. In addition, genotyping of molar tissue was performed in all cases of women with three or more CM to establish whether the tissue was diploid and biparental or androgenetic.
 +
MAIN RESULTS AND THE ROLE OF CHANCE:
 +
This study confirms an increased recurrence risk of ∼1% for a second molar pregnancy and in addition that this risk is associated with CM rather than PM. The data further indicate that the risk of a third HM is associated almost exclusively with CM and enabled an estimate that 1 in 640 women registered with a CM has the rare condition FRHM. The study also found that there was no significant difference between the risk of developing gestational trophoblastic neoplasia (GTN) for typical sporadic CM and the diploid biparental CM associated with FRHM (GTN; proportion difference 0.05, Z = 0.87, P = 0.29).
 +
LIMITATIONS, REASONS FOR CAUTION:
 +
While pathology was reviewed for all women with two or more molar pregnancies, not all cases registered underwent central review particularly those women registered in the early 1990s. It is therefore possible that the total number of CM and PM may differ slightly from that stated. While women were followed for a minimum of 5 years, it is possible that some women may subsequently have further molar pregnancies that will not have been included in the present study.
 +
WIDER IMPLICATIONS OF THE FINDINGS:
 +
This is the largest study to date on recurrence for molar pregnancies, and as such provides the most detailed information so far regarding the risk of further molar pregnancies for women with a PM or CM. Furthermore, the data provide new insights into the incidence of the rare autosomal recessive condition, FRHM, important information for counselling women with molar pregnancies.
 +
STUDY FUNDING/COMPETING INTERESTS:
 +
No competing interests declared. No funding was obtained for this study.
 +
© The Author 2015. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.
 +
KEYWORDS:
 +
NLRP7; complete hydatidiform mole; gestational trophoblastic neoplasia; partial hydatidiform mole; recurrent hydatidiform moles
 +
PMID 26202916
  
 
===NLRP7, Involved in Hydatidiform Molar Pregnancy (HYDM1), Interacts with the Transcriptional Repressor ZBTB16===
 
===NLRP7, Involved in Hydatidiform Molar Pregnancy (HYDM1), Interacts with the Transcriptional Repressor ZBTB16===

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Cite this page: Hill, M.A. (2019, December 8) Embryology Abnormal Development - Hydatidiform Mole. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Talk:Abnormal_Development_-_Hydatidiform_Mole


2015

Risk of recurrent molar pregnancies following complete and partial hydatidiform moles

Hum Reprod. 2015 Jul 22. pii: dev169. [Epub ahead of print]

Eagles N1, Sebire NJ2, Short D1, Savage PM1, Seckl MJ3, Fisher RA4.

Abstract

STUDY QUESTION: What is the risk of further molar pregnancies for women with one or more hydatidiform moles (HM) in relation to molar subtype. SUMMARY ANSWER: Women with a complete hydatidiform mole (CM) have a 1 in 100 and 1 in 4 risk of further CM after one or two consecutive CM, respectively, while women with a partial hydatidiform mole (PM) have only a small increase in risk for further molar pregnancies. WHAT IS KNOWN ALREADY: Women with a molar pregnancy have an increased risk of further HM. A small subgroup of women with recurrent HM has an autosomal recessive condition, familial recurrent hydatidiform moles (FRHM), that predisposes them to molar pregnancies. STUDY DESIGN, SIZE, DURATION: A retrospective study of subsequent pregnancies in 16 000 women registered at a centralized referral centre, with a CM or PM, between 1990 and 2009. PARTICIPANTS/MATERIALS, SETTING, METHODS: One hundred and sixty-six women with two or more molar pregnancies were identified from electronic records and patient notes. Histopathological features of all molar tissue were reviewed in these cases and genotyping performed where diagnosis was not possible on the basis of histopathological features alone. In addition, genotyping of molar tissue was performed in all cases of women with three or more CM to establish whether the tissue was diploid and biparental or androgenetic. MAIN RESULTS AND THE ROLE OF CHANCE: This study confirms an increased recurrence risk of ∼1% for a second molar pregnancy and in addition that this risk is associated with CM rather than PM. The data further indicate that the risk of a third HM is associated almost exclusively with CM and enabled an estimate that 1 in 640 women registered with a CM has the rare condition FRHM. The study also found that there was no significant difference between the risk of developing gestational trophoblastic neoplasia (GTN) for typical sporadic CM and the diploid biparental CM associated with FRHM (GTN; proportion difference 0.05, Z = 0.87, P = 0.29). LIMITATIONS, REASONS FOR CAUTION: While pathology was reviewed for all women with two or more molar pregnancies, not all cases registered underwent central review particularly those women registered in the early 1990s. It is therefore possible that the total number of CM and PM may differ slightly from that stated. While women were followed for a minimum of 5 years, it is possible that some women may subsequently have further molar pregnancies that will not have been included in the present study. WIDER IMPLICATIONS OF THE FINDINGS: This is the largest study to date on recurrence for molar pregnancies, and as such provides the most detailed information so far regarding the risk of further molar pregnancies for women with a PM or CM. Furthermore, the data provide new insights into the incidence of the rare autosomal recessive condition, FRHM, important information for counselling women with molar pregnancies. STUDY FUNDING/COMPETING INTERESTS: No competing interests declared. No funding was obtained for this study. © The Author 2015. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com. KEYWORDS: NLRP7; complete hydatidiform mole; gestational trophoblastic neoplasia; partial hydatidiform mole; recurrent hydatidiform moles PMID 26202916

NLRP7, Involved in Hydatidiform Molar Pregnancy (HYDM1), Interacts with the Transcriptional Repressor ZBTB16

PLoS One. 2015 Jun 29;10(6):e0130416. doi: 10.1371/journal.pone.0130416.

Singer H1, Biswas A1, Nuesgen N1, Oldenburg J1, El-Maarri O1.

Abstract

Mutations in the maternal effect gene NLRP7 cause biparental hydatidiform mole (HYDM1). HYDM1 is characterized by abnormal growth of placenta and lack of proper embryonic development. The molar tissues are characterized by abnormal methylation patterns at differentially methylated regions (DMRs) of imprinted genes. It is not known whether this occurs before or after fertilization, but the high specificity of this defect to the maternal allele indicates a possible maternal germ line-specific effect. To better understand the unknown molecular mechanism leading to HYDM1, we performed a yeast two-hybrid screen against an ovarian library using NLRP7 as bait. We identified the transcriptional repressor ZBTB16 as an interacting protein of NLRP7 and verified this interaction in mammalian cells by immunoprecipitation and confocal microscopy. Native protein analysis detected NLRP7 and ZBTB16 in a 480kD protein complex and both proteins co-localize in the cytoplasm in juxtanuclear aggregates. HYDM1-causing mutations in NLRP7 did not show altered patterns of interaction with ZBTB16. Hence, the biological significance of the NLRP7-ZBTB16 interaction remains to be revealed. However, a clear effect of harvesting ZBTB16 to the cytoplasm when the NLRP7 protein is overexpressed may be linked to the pathology of the molar pregnancy disease.

PMID 26121690

http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0130416

2013

Two cases of complete hydatidiform mole and coexistent live fetus

J Prenat Med. 2013 Jan;7(1):1-4.

Vimercati A, de Gennaro AC, Cobuzzi I, Grasso S, Abruzzese M, Fascilla FD, Cormio G, Selvaggi L. Source Obstetrics, Gynaecology and Neonatology, University of Bari, Bari, Italy.

Abstract

The aim of this study was to report the clinical features, management, and outcome of complete hydatidiform mole with a coexisting viable fetus. Two cases are reported. In both cases ultrasound examination demonstrated a normally growing live fetus alongside a normal placenta and an additional intrauterine echogenic mass with features of hydatidiform mole. The hCG levels were significantly increased and fetal karyotypes were normal. A cesarean section performed at 28 weeks' gestation in the first case and at 26 weeks' gestation in the second one resulted in the delivery of live normal infant and two adjoining placentas in both cases. Microscopic examination of the abnormal placentas confirmed complete hydatidiform mole. The babies did well and serial maternal serum hCG levels showed a declining trend and were undetectable by a few months after delivery. Continuation of a twin pregnancy with complete hydatidiform mole (CHMF) is an acceptable option. There is, although, an increased risk of developing maternal and fetal complications. Close surveillance of an ongoing pregnancy is compulsory to detect potential early signs of complications. KEYWORDS: complete hydatidiform mole, gestational trophoblastic disease, twin pregnancy

PMID 23741539


2012

Minimally-aggressive gestational trophoblastic neoplasms

Gynecol Oncol. 2012 Apr;125(1):145-50. Epub 2011 Dec 22.

Cole LA. Abstract INTRODUCTION: We have previously defined a new syndrome "Minimally-aggressive gestational trophoblastic neoplasms" in which choriocarcinoma or persistent hydatidiform mole has a minimal growth rate and becomes chemorefractory. Previously we described a new treatment protocol, waiting for hCG rise to >3000 mIU/ml and disease becomes more advanced, then using combination chemotherapy. Initially we found this treatment successful in 8 of 8 cases, here we find this protocol appropriate in a further 16 cases. Initially we used hyperglycosylated hCG, a limited availability test, to identify this syndrome. Here we propose also using hCG doubling rate to detect this syndrome. METHODS: Minimally aggressive gestational trophoblastic disease can be detected by chemotherapy resistance or low hyperglycosylated hCG, <40% of total hCG. It can also be identified by hCG doubling rate, with doubling time greater than 2weeks. RESULTS: Nineteen new cases were identified as having minimally aggressive gestational trophoblastic disease by hyperglycosylated hCG and by hCG doubling test. All were recommended to hold off further chemotherapy until hCG >3000mIU/ml. One case died prior to the start of the study, one case withdrew because of a lung nodule and one withdrew refusing the suggested combination chemotherapy. The remaining 16 women were all successfully treated. DISCUSSION: A total of 8 plus 16 or 24 of 24 women were successfully treated using the proposed protocol, holding back on chemotherapy until hCG >3000mIU/ml. Copyright © 2011 Elsevier Inc. All rights reserved.

PMID 22198244


Chemotherapy and human chorionic gonadotropin concentrations 6 months after uterine evacuation of molar pregnancy: a retrospective cohort study

Lancet. 2012 Jan 14;379(9811):130-5. Epub 2011 Nov 28.


Agarwal R, Teoh S, Short D, Harvey R, Savage PM, Seckl MJ. Source Imperial College London, London, UK. Abstract BACKGROUND: Indications for chemotherapy in gestational trophoblastic disease include raised human chorionic gonadotropin (hCG) concentrations 6 months after uterine evacuation of hydatidiform mole, even when values are falling. We aimed to establish whether chemotherapy is always necessary in these patients. METHODS: We retrospectively identified women registered between January, 1993, and May, 2008, at Charing Cross Hospital, London, UK, who had persistently high hCG concentrations 6 months after evacuation of hydatidiform mole. Rates of hCG normalisation, relapse, and death were assessed in patients continued under surveillance and those who received chemotherapy after 6 months. We postulated that a surveillance policy would be clinically acceptable if hCG values returned to normal in 75% of patients or more. FINDINGS: 76 (<1%) of 13,960 patients with hydatidiform moles had persistently high hCG concentrations of more than 5 IU/L 6 months after evacuation. 66 (87%) patients continued under surveillance and hCG values spontaneously returned to normal without chemotherapy in 65 (98%) of these patients. Values in one patient did not become normal because of chronic renal failure, but she remains healthy. Ten patients received chemotherapy, and hCG concentrations returned to normal in eight (80%) of these individuals (surveillance vs chemotherapy groups p=0·044) and remained slightly high (6-11 IU/L) in two without any associated clinical problems off treatment. We noted no significant differences between individuals in the surveillance and chemotherapy groups, apart from lower median hCG concentrations 6 months after evacuation in those under surveillance than in those given chemotherapy (13 IU/L, range 5-887, vs 157 IU/L, range 6-6438; p=0·004). Overall, there were no deaths in this series. INTERPRETATION: A surveillance policy seems to be clinically acceptable in patients with low and declining concentrations of hCG 6 months after evacuation of hydatidiform mole. FUNDING: National Commissioning Group, Imperial Experimental Cancer Medicine Centre, Imperial Biomedical Research Centre, and Cancer Research UK. Copyright © 2012 Elsevier Ltd. All rights reserved. Comment in Lancet. 2012 Jan 14;379(9811):98-100.

PMID 22130490

2011

2010