GTN
MCID: GST010
MIFTS: 52

Gestational Trophoblastic Neoplasm (GTN)

Categories: Cancer diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Gestational Trophoblastic Neoplasm

MalaCards integrated aliases for Gestational Trophoblastic Neoplasm:

Name: Gestational Trophoblastic Neoplasm 12 20 58 15
Hydatidiform Mole 12 44 15 71
Gestational Trophoblastic Neoplasia 12 6
Gestational Trophoblastic Disease 44 71
Gestational Trophoblastic Tumor 20 54
Gtn 20 58
Gestational Trophoblastic Neoplasms 71
Hydatidiform Mole, Recurrent, 1 71
Molar Pregnancy 12

Characteristics:

Orphanet epidemiological data:

58
gestational trophoblastic neoplasm
Inheritance: Not applicable; Age of onset: Adult; Age of death: adult;

Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases


External Ids:

Disease Ontology 12 DOID:3590
ICD9CM 34 630
SNOMED-CT 67 156085008 417475006
ICD10 32 O01
MESH via Orphanet 45 D031901
UMLS via Orphanet 72 C1135868
Orphanet 58 ORPHA59305
SNOMED-CT via HPO 68 17369002 314631008 351814001
UMLS 71 C0020217 C0278796 C1135868 more

Summaries for Gestational Trophoblastic Neoplasm

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 59305DefinitionGestational trophoblastic tumors (GTT) are malignant forms of gestational trophoblastic disease. The tumor always follows pregnancy, most often molar pregnancy (hydatidiform mole; see this term). Four histological subtypes have been described: invasive mole, gestational choriocarcinoma, placental site trophoblastic tumor and epithelioid trophoblastic tumor (see these terms).EpidemiologyExact annual incidence is not known but it is estimated to be about 1/1,000,000 women.Clinical descriptionGTTs occur following hydatidiform moles (see this term) (15% of complete moles and about 3% of partial moles), following spontaneous miscarriage (1/150) or childbirth (1/40,000). Indicative signs are an absence of normalization or a secondary elevation of total serum chorionic gonadotropin (hCG) levels after evacuation of a hydatidiform mole (more than 60% of cases), persistent unexplained metrorrhagia following spontaneous miscarriage or voluntary termination of pregnancy (VTP) (about 30% of cases) and very occasionally, unexplained metrorrhagia in the weeks or months following normal childbirth or ectopic pregnancy (about 10% of cases). Exceptionally, metastasis may be a sign of the disease in women of childbearing age.EtiologyThe etiology of gestational trophoblastic tumors is not known. Identification of a GTT is based on a total serum hCG assay, which is recommended following hydatidiform moles in patients with metrorrhagia persisting for more than six weeks after pregnancy, and in any patient of childbearing age who has metastasis (lung, liver, brain, kidney, vagina) with no known primary tumor.Diagnostic methodsDiagnosis of a post-molar GTT relies on one of the following four criteria: stable hCG levels (variation of less than 10%) with at least four weekly assays over a period of at least three weeks (days 1, 7, 14, 21), increase of at least 10% in hCG with at least three weekly assays over at least two weeks (days 1, 7, 14), persistence of detectable hCG values for more than six months following mole evacuation or based on histological diagnosis of a choriocarcinoma.Differential diagnosisGTTs must not be confused with hydatidiform moles (see this term) and, for choriocarcinomas, with non-gestational choriocarcinomas, which are most often ovarian.Management and treatmentAs soon as the diagnosis is made, staging must be performed to identify frequent metastases. Staging involves endovaginal pelvic color doppler ultrasound, pelvic and cerebral MRI, and abdominal/chest CT. A lung X-ray must be performed to calculate the FIGO 2000 score (International Federation of Obstetrics and Gynecology) in case of lung metastasis on CT. This score makes it possible to distinguish between low-risk GTTs (score of 6 or lower) and high-risk GTTs (score of 7 or higher). Management should be multidisciplinary and must be discussed by a panel of physicians in a specialized center. Low-risk tumors are treated by systemic single-agent chemotherapy, e.g. methotrexate (marketing authorization). High-risk tumors are treated first line with systemic multi-agent chemotherapy. Hysterectomy can of course not be considered for first-line treatment in women who wish to become pregnant, unless there is no option. Placental site trophoblastic tumors and epithelioid trophoblastic tumors are special cases: the FIGO score is not appropriate and total hysterectomy is the standard treatment as these tumors are usually chemo-resistant.PrognosisThe overall recovery rate is around 99%. The prognosis is very closely related to the rapidity of diagnosis, the risk level of the tumor (low or high) and the suitability of treatment.Visit the Orphanet disease page for more resources.

MalaCards based summary : Gestational Trophoblastic Neoplasm, also known as hydatidiform mole, is related to partial hydatidiform mole and choriocarcinoma. An important gene associated with Gestational Trophoblastic Neoplasm is NLRP7 (NLR Family Pyrin Domain Containing 7). The drugs Nitroglycerin and Amifostine have been mentioned in the context of this disorder. Affiliated tissues include lung, placenta and uterus, and related phenotypes are spontaneous abortion and high maternal serum chorionic gonadotropin

Related Diseases for Gestational Trophoblastic Neoplasm

Diseases related to Gestational Trophoblastic Neoplasm via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 271)
# Related Disease Score Top Affiliating Genes
1 partial hydatidiform mole 33.2 NLRP7 KHDC3L
2 choriocarcinoma 32.4 H19 CSH2 CSH1 CGB5 CDKN1C
3 placental site trophoblastic tumor 32.3 LGALS1 CSH2 CSH1 CGB5
4 triploidy 31.6 NLRP7 KHDC3L
5 placenta praevia 31.2 CSH2 CSH1
6 gestational choriocarcinoma 31.0 NLRP7 H19 CSH2 CSH1
7 epithelioid trophoblastic tumor 30.6 LGALS1 CSH2 CSH1
8 placenta disease 30.5 LGALS1 CSH2 CSH1 CGB5
9 hydatidiform mole, recurrent, 1 30.3 PHLDA2 NLRP7 KHDC3L H19 CGB5 CDKN1C
10 neonatal diabetes 30.1 ZFP57 PLAGL1 HYMAI
11 trophoblastic neoplasm 29.7 ZFP57 PLAGL1 OOEP NLRP7 NLRP5 NLRP2
12 beckwith-wiedemann syndrome 29.3 ZFP57 PLAGL1 PHLDA2 NLRP7 NLRP5 NLRP2
13 silver-russell syndrome 1 29.2 ZFP57 PLAGL1 PHLDA2 NLRP7 NLRP5 NLRP2
14 recurrent hydatidiform mole 12.0
15 hydatidiform mole, recurrent, 2 11.9
16 hydatidiform mole, recurrent, 3 11.8
17 hydatidiform mole, recurrent, 4 11.8
18 invasive mole 11.4
19 pulmonary arteriovenous fistulas 11.2
20 pre-eclampsia 10.9
21 eclampsia 10.8
22 hyperthyroidism 10.8
23 ectopic pregnancy 10.6
24 neutropenia 10.6
25 severe pre-eclampsia 10.6
26 graves disease 1 10.6
27 chromosomal triplication 10.5
28 amenorrhea 10.5
29 ovarian cyst 10.5
30 pemphigoid gestationis 10.4
31 testicular trophoblastic tumor 10.4 CSH2 CSH1
32 gestational ovarian choriocarcinoma 10.4 CSH2 CSH1
33 ovarian hyperstimulation syndrome 10.4
34 choriocarcinoma of the testis 10.3 CSH2 CSH1
35 choriocarcinoma of ovary 10.3 CSH2 CSH1
36 non-gestational ovarian choriocarcinoma 10.3 CSH2 CSH1
37 paternal uniparental disomy of chromosome 6 10.3 PLAGL1 HYMAI
38 hemihyperplasia, isolated 10.3 H19 CDKN1C
39 rh isoimmunization 10.3 CSH2 CSH1
40 supine hypotensive syndrome 10.3 CSH2 CSH1
41 preimplantation embryonic lethality 1 10.3 TLE6 NLRP5
42 non-gestational choriocarcinoma 10.3 CSH2 CSH1
43 diabetes mellitus, transient neonatal, 1 10.3 ZFP57 PLAGL1
44 anencephaly 10.2
45 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.2
46 nephrotic syndrome 10.2
47 infertility 10.2
48 migraine with or without aura 1 10.2
49 alopecia 10.2
50 mosaic trisomy 8 10.2

Graphical network of the top 20 diseases related to Gestational Trophoblastic Neoplasm:



Diseases related to Gestational Trophoblastic Neoplasm

Symptoms & Phenotypes for Gestational Trophoblastic Neoplasm

Human phenotypes related to Gestational Trophoblastic Neoplasm:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spontaneous abortion 58 31 hallmark (90%) Very frequent (99-80%) HP:0005268
2 high maternal serum chorionic gonadotropin 58 31 hallmark (90%) Very frequent (99-80%) HP:0011433
3 menometrorrhagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0400008

Drugs & Therapeutics for Gestational Trophoblastic Neoplasm

Drugs for Gestational Trophoblastic Neoplasm (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 127)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
2
Amifostine Approved, Investigational Phase 3 20537-88-6 2141
3
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
4
Levoleucovorin Approved, Investigational Phase 2, Phase 3 68538-85-2 149436
5
Etoposide Approved Phase 3 33419-42-0 36462
6
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
7
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
8
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
9
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
10
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
11
Dactinomycin Approved, Investigational Phase 3 50-76-0 2019 457193
12
leucovorin Approved Phase 3 58-05-9 6006
13
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
14
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
15
Moxifloxacin Approved, Investigational Phase 3 151096-09-2, 354812-41-2 152946
16
Norgestimate Approved, Investigational Phase 3 35189-28-7 6540478
17
Polyestradiol phosphate Approved Phase 3 28014-46-2
18
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
19 Radiation-Protective Agents Phase 3
20 Liver Extracts Phase 3
21 Etoposide phosphate Phase 3
22 Folic Acid Antagonists Phase 2, Phase 3
23 Vitamin B Complex Phase 2, Phase 3
24 Albumin-Bound Paclitaxel Phase 3
25 Tubulin Modulators Phase 3
26 Folate Phase 2, Phase 3
27 Antimitotic Agents Phase 3
28 Vitamin B9 Phase 2, Phase 3
29 Alkylating Agents Phase 3
30 Immunosuppressive Agents Phase 3
31 Antibiotics, Antitubercular Phase 3
32 Antimetabolites Phase 3
33 Antirheumatic Agents Phase 3
34 Immunologic Factors Phase 3
35 Dermatologic Agents Phase 3
36 Protective Agents Phase 3
37 Nutrients Phase 3
38 Micronutrients Phase 3
39 Trace Elements Phase 3
40 Vitamins Phase 3
41 Calcium, Dietary Phase 3
42 Antidotes Phase 3
43 Cactinomycin Phase 3
44 Hematinics Phase 3
45 Hormones Phase 3
46 Anti-Infective Agents Phase 3
47 Anti-Bacterial Agents Phase 3
48 Contraceptive Agents Phase 3
49 Estradiol 3-benzoate Phase 3
50 Contraceptives, Oral Phase 3

Interventional clinical trials:

(show top 50) (show all 53)
# Name Status NCT ID Phase Drugs
1 A Comparison of Single Versus Double Evacuation for Treatment of Hydatidiform Unknown status NCT01630954 Phase 4
2 Primary Surgery Plus Single Course Methotrexate Versus Primary Methotrexate for Treatment of Gestational Trophoblastic Neoplasms in Low Risk Cases Above 40y: a Randomized Controled Trial Unknown status NCT02606539 Phase 2, Phase 3 Methotrexate plus folinic acid alone
3 Comparison Between Rescue Regimen and High Dose Methotrexate in the Managment of Presistent Gestational Trophoplastic Neoplasia :( A Randomized Controlled Trial ) Unknown status NCT03280979 Phase 2, Phase 3 rescue regimen;high dose methotrxate
4 A Randomized Phase III Trial of Amifostine vs. No Treatment for Platinum Induced Peripheral Neuropathy Completed NCT00058071 Phase 3 amifostine trihydrate
5 A Randomized Phase III Trial of Weekly Parenteral Methotrexate Versus "Pulsed" Dactinomycin as Primary Management for Low Risk Gestational Trophoblastic Neoplasia Completed NCT00003702 Phase 3 Methotrexate
6 The Efficacy of Methotrexate for the Prevention of Postmolar Gestational Trophoblastic Disease Among Patients With High-Risk Hydatidiform Mole Completed NCT01984099 Phase 3 Methotrexate;Vitamin B Complex
7 A Prospective Randomized Multicenter Clinical Control Study of Paclitaxel Plus Cisplatin as the First-line Chemotherapy in High Risk Gestational Trophoblastic Tumor Recruiting NCT02639650 Phase 3 Etoposide;actinomycin D;methotrexate;vincristine;cyclophosphamide;Paclitaxel;Cisplatin;Carboplatin
8 A Prospective Randomized Multicenter Clinical Control Study of Hysteroscopic Repeat Curettage as the Primal Management of Low-risk Postmolar Gestational Trophoblastic Neoplasia Recruiting NCT03703271 Phase 3 Methotrexate
9 Women's Hospital, Zhejiang University School of Medicine Recruiting NCT03885388 Phase 2, Phase 3 MTX;MTX+ACTD
10 A Phase III Randomized Trial of Pulse Actinomycin-D Versus Multi-day Methotrexate for the Treatment of Low-Risk Gestational Trophoblastic Neoplasia Active, not recruiting NCT01535053 Phase 3 Leucovorin Calcium;Methotrexate
11 A Multicenter, Prospective, Randomized Trial of Methotrexate Single-dose Treatment and Methotrexate/Actinomycin-D Single-dose Treatment in Low-Risk Gestational Trophoblastic Neoplasia Active, not recruiting NCT01823315 Phase 3 MTX 1;MTX 2
12 Randomized, Double Blinded, Placebo-Controlled Trial of Antibacterial Prophylaxis for the Prevention of Bacterial Infections in the Post-Engraftment Phase After Allogeneic Hematopoeitic Stem Cell Transplantation Terminated NCT00324324 Phase 3 moxifloxacin hydrochloride;Placebo
13 Pulse Actinomycin-D as Salvage Therapy for Failed Low Risk Gestational Trophoblastic Neoplasia Completed NCT00003688 Phase 2
14 A Phase II Study to Determine the Response to Second Curettage as Initial Management for Persistent Low Risk, Non-metastatic Gestational Trophoblastic Neoplasia Completed NCT00521118 Phase 2
15 A Phase II Trial of Pemetrexed (Alimta) in the Treatment of Recurrent or Persistent Low Risk Gestational Trophoblastic Tumor Completed NCT00190918 Phase 2 Pemetrexed
16 A Phase II Study to Evaluate Low-Dose Alemtuzumab as a Glucocorticoid-Sparing Agent for Initial Systemic Treatment of Acute Graft-Versus-Host Disease Completed NCT00410657 Phase 2 methylprednisolone;prednisone
17 Phase II Clinical Trial Incorporating Alemtuzumab (Campath-1H) in Combination With FK506 and Methylprednisolone for Treatment of Severe Acute Graft vs Host Disease Completed NCT00109993 Phase 2 methylprednisolone;tacrolimus
18 A Phase I-II Safety, Tolerability And Pharmacokinetic Study Of Ravuconazole For Prophylaxis Of Invasive Fungal Infections In Patients Undergoing Non-Myeloablative Allogeneic Hematopoietic Stem Cell Transplantation Completed NCT00064311 Phase 1, Phase 2 ravuconazole
19 Oral Beclomethasone Dipropionate Capsules for Treatment of Intestinal Graft-Versus-Host Disease: Compassionate Use in Patients With Contraindictions to High-Dose Immunosuppressive Therapy Completed NCT00010283 Phase 1, Phase 2 beclomethasone dipropionate
20 Donor Lymphocyte Infusion (DLI) as Adoptive Immunotherapy for Relapse Malignancies After Allogeneic Hematopoietic Transplantation Completed NCT00003887 Phase 2
21 Cytokine-Based Immunotherapy Following High-Dose Chemotherapy and Autologous Stem Cell Transplantation Completed NCT00003408 Phase 2
22 Psychosexual Intervention for Gynecologic and Breast Cancer Patients Completed NCT01764802 Phase 2
23 Combination of Interleukin 11 (Neumega) With G-CSF to Mobilize Autologous Peripheral Blood Stem Cells (PBSC) Completed NCT00004157 Phase 2
24 Prevention of DMSO-Related Nausea and Vomiting by Prophylactic Administration of Ondansetron for Patients Receiving Autologous Cryopreserved Peripheral Blood Stem Cells Completed NCT00795769 Phase 2 ondansetron
25 A Phase II Trial of Avelumab in Chemo-resistant Gestational Trophoblastic Neoplasias (GTN) Recruiting NCT03135769 Phase 2 Avelumab administration at 10mg/kg
26 TROPHAMET, a Phase I/II Trial of Avelumab and METhotrexate in Low-risk Gestational TROPHoblastic Neoplasias as First Line Treatment Recruiting NCT04396223 Phase 1, Phase 2 Avelumab Injection;Methotrexate 1 GM Injection
27 DART: Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors Recruiting NCT02834013 Phase 2
28 Camrelizumab Combined With Apatinib for Recurrent Resistant Gestational Trophoblastic Neoplasia: a Phase 2, Single-arm, Prospective Study Active, not recruiting NCT04047017 Phase 2 Apatinib;Camrelizumab
29 Phase 2 Trial for Chemo-Resistant Gestational Trophoblastic Neoplasias With Pembrolizumab Not yet recruiting NCT04303884 Phase 2 Pembrolizumab Injection [Keytruda]
30 A Phase 2A Study of TRC105 (With Option to Add Bevacizumab) in Patients With Refractory Gestational Trophoblastic Neoplasia (GTN) Terminated NCT02664961 Phase 2 TRC105;Bevacizumab
31 A Phase II Trial of Pemetrexed (ALIMTA®, LY231514, IND #40061) as Salvage Therapy for Failed Low Risk Gestational Trophoblastic Tumor Terminated NCT00096187 Phase 2 pemetrexed disodium
32 Deferasirox Treatment and Labile Plasma Iron in Iron Overloaded Patients Who Have Undergone Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01159067 Phase 2 deferasirox
33 A Phase I Trial of Recombinant Human Interleukin-12 After High-Dose Therapy and Autologous Hematopoietic Stem Cell Support Completed NCT00003107 Phase 1
34 Prolonged Infusion Compared to Standard Infusion Cefepime as Empiric Treatment of Febrile Neutropenia: A Pilot Study Completed NCT01484015 Phase 1 cefepime hydrochloride
35 Prediction of Chemoresistance in Patients Treated for Gestational Trophoblastic Tumors Unknown status NCT03488901
36 Conformation of Beta Human Chorionic Gonadotropin During Chemotherapy for Persistent Gestational Trophoblastic Tumors Using Atomic Force Microscopy and Dual Polarisation Interferometry Unknown status NCT00294177
37 Detection of Minimal Amount of Human Chorionic Gonadotropin by Interferometry in Gestational Trophoblastic Disease Unknown status NCT00166790 chemotherapy agents
38 A Global Assessment of Medical, Emotional and Reproductive Concerns in Gestational Trophoblastic Disease Survivors Completed NCT00706875
39 Emotional Needs of Caregivers and Patient/Spouse Couples During Hematopoietic Stem Cell Transplantation (HSCT) Completed NCT00082654
40 Randomized-Controlled, Pilot Study of the Effects of a Brief, Scripted Sexual Health Intervention on Sexual Function for Women With Gynecologic Cancer Completed NCT02096783
41 A Pilot Study to Evaluate the Potential Efficacy of Lithium Carbonate for Stimulation of Intestinal Recovery In Patients With Acute Graft-versus-host Disease (GVHD) Completed NCT00408681 lithium carbonate
42 A Biobehavioral Intervention for Patients With Gynecologic or Breast Cancer Recurrence Completed NCT01764789
43 Pilot Study Evaluating Aprepitant (MK-869) for Prevention of Nausea & Vomiting Secondary to High Dose Cyclophosphamide Administered to Patients Underging Undergoing Peripheral Hematopoietic Progenitor Cell Mobilization Prior to Autologous Transplantation Completed NCT00293384 Aprepitant;Cyclophosphamide;Dexamethasone;Granisetron hydrochloride
44 Tissue Bank for Studies Related to Graft-Versus-Host Disease (GVHD) Completed NCT00900406
45 Acquisition of Human Gynecologic Specimens to be Used in Studying the Causes, Diagnosis, Prevention and Treatment of Cancer Completed NCT00897442
46 A Prospective,Multicenter,Randomized Trial of Biweekly Single-dose Actinomycin-D Versus Multi-day Methotrexate Protocol for the Treatment of Low-risk Gestational Trophoblastic Neoplasia Recruiting NCT04562558 Methotrexate;Leucovorin;Dactinomycin
47 The French National Reference Centre of Gestational Trophoblastic Disease Recruiting NCT02892877
48 Genetic Studies in Gestational Trophoblastic Disease Recruiting NCT01008501
49 Study of Different Therapeutic Strategies in Hydatidiform Mole With Lung Nodule,A Prospective Multicentre Randomized Controlled Trial Recruiting NCT03785574 chemotherapy
50 The Registry of Oncology Outcomes Associated With Testing and Treatment (ROOT) Not yet recruiting NCT04028479 Systemic Treatment (T)

Search NIH Clinical Center for Gestational Trophoblastic Neoplasm

Cochrane evidence based reviews: hydatidiform mole

Genetic Tests for Gestational Trophoblastic Neoplasm

Anatomical Context for Gestational Trophoblastic Neoplasm

MalaCards organs/tissues related to Gestational Trophoblastic Neoplasm:

40
Lung, Placenta, Uterus, Thyroid, T Cells, Cervix, Bone

Publications for Gestational Trophoblastic Neoplasm

Articles related to Gestational Trophoblastic Neoplasm:

(show top 50) (show all 2846)
# Title Authors PMID Year
1
Criteria for initiating chemotherapy in patients after evacuation of hydatidiform mole. 61 54
14610317 2003
2
Methylation profiles of imprinted genes are distinct between mature ovarian teratoma, complete hydatidiform mole, and extragonadal mature teratoma. 61
32873866 2021
3
Immune cell composition in the endometrium of patients with a complete molar pregnancy: Effects on outcome. 61
33213898 2021
4
Emergency craniotomy in patient with intracranial metastatic choriocarcinoma: a case report. 61
33530802 2021
5
Video hysteroscopy in the diagnosis of molar pregnancy in two challenging situations: complete mole with normal hCG and partial mole with early gestational age. 61
33556583 2021
6
Gestational Trophoblastic Disease: Current Evaluation and Management. 61
33416290 2021
7
Management of a complete hydatidiform mole with a coexisting live fetus followed by successful treatment of maternal metastatic gestational trophoblastic disease: learning points. 61
33461990 2021
8
Invasive mole with lung metastasis after an abdominal complete hydatidiform mole treatment. 61
33078868 2021
9
Psychological factors influencing emotional reactions to gestational trophoblastic disease: The role of coping mechanisms and illness perception. 61
33459425 2021
10
Guideline No. 408: Management of Gestational Trophoblastic Diseases. 61
33384141 2021
11
Obstetrics outcomes after complete and partial molar pregnancy: Review of the literature and meta-analysis. 61
33550107 2021
12
Directive clinique no 408 : Prise en charge des maladies gestationnelles trophoblastiques. 61
33384137 2021
13
[Persistent gestational trophoblastic disease following ectopic molar pregnancy]. 61
33512127 2021
14
Hydatidiform mole diagnostics using circulating gestational trophoblasts isolated from maternal blood. 61
33306861 2020
15
Diagnosis and Management of Gestational Trophoblastic Disease: A Comparative Review of National and International Guidelines. 61
33369685 2020
16
Recurrent GTD and GTD coexisting with normal twin pregnancy. 61
33451920 2020
17
Clinical presentation and diagnosis of Gestational Trophoblastic Disease. 61
33422446 2020
18
Distinct genomic profiles of gestational choriocarcinoma, a unique cancer of pregnant tissues. 61
33319857 2020
19
Detection of Parental Contribution to Molar Genome Leads to Diagnosis of Recurrent Hydatidiform Mole in a Family with NLRP7 Variants. 61
33252287 2020
20
COVID-19 and hydatidiform mole. 61
32698238 2020
21
[Clinical analysis of 12 cases of acute myeloid leukemia complicated with synchronous primary solid tumor]. 61
33202495 2020
22
Obstetric outcomes of twin pregnancies presenting with a complete hydatidiform mole and coexistent normal fetus: a systematic review and meta-analysis. 61
32339446 2020
23
Persistent complete hydatidiform molar pregnancy following assisted reproductive technology in a gestational carrier: Case report. 61
33015278 2020
24
Role of hysteroscopy and ultrasound in early identification of post-molar gestational trophoblastic neoplasia. 61
32920420 2020
25
Impact of ultrasound in diagnosis of hydatidiform mole in early pregnancy: A protocol of systematic review. 61
33031268 2020
26
Abnormal processing of IL-1β in NLRP7-mutated monocytes in hydatidiform mole patients. 61
32484253 2020
27
People living with human immunodeficiency virus and gestational trophoblastic neoplasm. 61
33176993 2020
28
Epithelioid trophoblastic tumor coexisting with choriocarcinoma around an abdominal wall cesarean scar: a case report and review of the literature. 61
33012293 2020
29
Surgery including fertility-sparing treatment of GTD. 61
33127305 2020
30
p57 in Hydatidiform Moles: Evaluation of Antibodies and Expression in Various Cell Types. 61
31567274 2020
31
Refined diagnosis of hydatidiform moles with p57 immunohistochemistry and molecular genotyping: updated analysis of a prospective series of 2217 cases. 61
33024305 2020
32
Decreasing incidence of registered hydatidiform moles in Denmark 1999-2014. 61
33046739 2020
33
Diagnosis and outcome of hydatidiform moles in missed-miscarriage: a cohort-study, systematic review and meta-analysis. 61
32877774 2020
34
P57kip2 immunohistochemical marker as a diagnostic tool for cases of hydatidiform moles in a tertiary health facility in Southwestern Nigeria. 61
33154286 2020
35
Human epidermal growth factor receptor 2 fluorescence in situ hybridization and P57KIP2 immunohistochemistry using tissue microarray: Improving histopathological subtyping of hydatidiform mole. 61
32810764 2020
36
The impact of pre-evacuation ultrasound examination in histologically confirmed hydatidiform mole in missed abortion. 61
32912152 2020
37
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance. 61
32928291 2020
38
Hydatidiform Mole in a Patient With a Concern for Neoplasia: A Case Report. 61
33052280 2020
39
A Case Report of Twin Pregnancy with Hydatidiform Mole and Co-existing Live Fetus. 61
32952514 2020
40
Molar Changes With a Normal Viable Fetus: A Case Report. 61
33603814 2020
41
Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy. 61
32938693 2020
42
Telomere-to-telomere assembly of a complete human X chromosome. 61
32663838 2020
43
Pregnancy after oocyte donation in a patient with NLRP7 gene mutations and recurrent molar hydatidiform pregnancies. 61
32592075 2020
44
MiR-30a-5p inhibits proliferation and metastasis of hydatidiform mole by regulating B3GNT5 through ERK/AKT pathways. 61
32575164 2020
45
Spliceosome protein EFTUD2 is upregulated in the trophoblast of spontaneous miscarriage and hydatidiform mole. 61
32447180 2020
46
Germline NLRP7 mutations: genomic imprinting and hydatidiform mole. 61
32577811 2020
47
Pulmonary deportation of hydatidiform mole: a 12-year, single tertiary center experience in China. 61
32826456 2020
48
[Molecular pathological diagnosis of twin pregnancy with complicated genetical characteristics]. 61
32746544 2020
49
NLRP7 plays a functional role in regulating BMP4 signaling during differentiation of patient-derived trophoblasts. 61
32814763 2020
50
Ultrasound diagnosis of complete and partial hydatidiform moles in early pregnancy failure: An inter-observer study. 61
32792066 2020

Variations for Gestational Trophoblastic Neoplasm

ClinVar genetic disease variations for Gestational Trophoblastic Neoplasm:

6 (show top 50) (show all 109)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NLRP7 NM_001127255.1(NLRP7):c.1857_1858del (p.Lys619fs) Deletion Pathogenic 812700 19:55450329-55450330 19:54938961-54938962
2 NLRP7 NM_001127255.1(NLRP7):c.337dup (p.Glu113fs) Duplication Pathogenic 97796 rs104895553 19:55452313-55452314 19:54940945-54940946
3 NLRP7 NM_001127255.1(NLRP7):c.2320_2321insT (p.Thr774fs) Insertion Likely pathogenic 830330 19:55446007-55446008 19:54934639-54934640
4 NLRP7 NM_001127255.1(NLRP7):c.531C>T (p.His177=) SNV Conflicting interpretations of pathogenicity 330181 rs746150420 19:55451656-55451656 19:54940288-54940288
5 NLRP7 NM_001127255.1(NLRP7):c.352+13G>A SNV Uncertain significance 330184 rs115894800 19:55452286-55452286 19:54940918-54940918
6 NLRP7 NM_001127255.1(NLRP7):c.1718G>A (p.Gly573Asp) SNV Uncertain significance 330165 rs149696586 19:55450469-55450469 19:54939101-54939101
7 NLRP7 NM_001127255.1(NLRP7):c.*5C>T SNV Uncertain significance 330154 rs115724298 19:55435103-55435103 19:54923735-54923735
8 NLRP7 NM_001127255.1(NLRP7):c.2548C>T (p.His850Tyr) SNV Uncertain significance 330159 rs886054632 19:55445031-55445031 19:54933663-54933663
9 NLRP7 NM_001127255.1(NLRP7):c.9G>A (p.Ser3=) SNV Uncertain significance 127264 rs199475821 19:55453071-55453071 19:54941703-54941703
10 NLRP7 NM_001127255.1(NLRP7):c.1168C>T (p.Arg390Cys) SNV Uncertain significance 330171 rs543019983 19:55451019-55451019 19:54939651-54939651
11 NLRP7 NM_001127255.1(NLRP7):c.1302C>T (p.Asp434=) SNV Uncertain significance 97718 rs104895545 19:55450885-55450885 19:54939517-54939517
12 NLRP7 NM_001127255.1(NLRP7):c.555C>T (p.Thr185=) SNV Uncertain significance 330180 rs754428027 19:55451632-55451632 19:54940264-54940264
13 NLRP7 NM_001127255.1(NLRP7):c.835G>T (p.Val279Leu) SNV Uncertain significance 330177 rs144378653 19:55451352-55451352 19:54939984-54939984
14 NLRP7 NM_001127255.1(NLRP7):c.1257C>G (p.Ala419=) SNV Uncertain significance 330170 rs151120858 19:55450930-55450930 19:54939562-54939562
15 NLRP7 NM_001127255.1(NLRP7):c.66A>G (p.Leu22=) SNV Uncertain significance 330186 rs149175257 19:55453014-55453014 19:54941646-54941646
16 NLRP7 NM_001127255.1(NLRP7):c.-39-3C>T SNV Uncertain significance 330188 rs772074527 19:55453121-55453121 19:54941753-54941753
17 NLRP7 NM_001127255.1(NLRP7):c.445G>A (p.Asp149Asn) SNV Uncertain significance 330182 rs756978762 19:55451742-55451742 19:54940374-54940374
18 NLRP7 NM_001127255.1(NLRP7):c.336G>C (p.Ser112=) SNV Uncertain significance 330185 rs766338217 19:55452315-55452315 19:54940947-54940947
19 NLRP7 NM_001127255.1(NLRP7):c.-9C>T SNV Uncertain significance 330187 rs184816368 19:55453088-55453088 19:54941720-54941720
20 NLRP7 NM_001127255.1(NLRP7):c.*183G>A SNV Uncertain significance 330152 rs886054631 19:55434925-55434925 19:54923557-54923557
21 NLRP7 NM_001127255.1(NLRP7):c.1548T>C (p.Ile516=) SNV Uncertain significance 330166 rs367965993 19:55450639-55450639 19:54939271-54939271
22 NLRP7 NM_001127255.1(NLRP7):c.2384G>A (p.Arg795His) SNV Uncertain significance 330160 rs200965650 19:55445944-55445944 19:54934576-54934576
23 NLRP7 NM_001127255.1(NLRP7):c.2750G>A (p.Arg917His) SNV Uncertain significance 330157 rs371741023 19:55441927-55441927 19:54930559-54930559
24 NLRP7 NM_001127255.1(NLRP7):c.3083C>T (p.Thr1028Met) SNV Uncertain significance 330155 rs144955489 19:55435139-55435139 19:54923771-54923771
25 NLRP7 NM_001127255.1(NLRP7):c.1138G>C (p.Gly380Arg) SNV Uncertain significance 97716 rs104895557 19:55451049-55451049 19:54939681-54939681
26 NLRP7 NM_001127255.1(NLRP7):c.1196G>A (p.Cys399Tyr) SNV Uncertain significance 97717 rs104895510 19:55450991-55450991 19:54939623-54939623
27 NLRP7 NM_001127255.1(NLRP7):c.2156C>T (p.Ala719Val) SNV Uncertain significance 97747 rs104895526 19:55447773-55447773 19:54936405-54936405
28 NLRP7 NM_001127255.1(NLRP7):c.251G>A (p.Cys84Tyr) SNV Uncertain significance 97761 rs104895509 19:55452829-55452829 19:54941461-54941461
29 NLRP7 NM_001127255.1(NLRP7):c.574A>C (p.Met192Leu) SNV Uncertain significance 97804 rs104895529 19:55451613-55451613 19:54940245-54940245
30 NLRP7 NM_001127255.1(NLRP7):c.701T>C (p.Leu234Ser) SNV Uncertain significance 97805 rs61732584 19:55451486-55451486 19:54940118-54940118
31 NLRP7 NM_001127255.1(NLRP7):c.1823C>T (p.Ser608Phe) SNV Uncertain significance 127260 rs199475830 19:55450364-55450364 19:54938996-54938996
32 NLRP7 NM_001127255.1(NLRP7):c.719G>A (p.Ser240Asn) SNV Uncertain significance 127263 rs199475824 19:55451468-55451468 19:54940100-54940100
33 NLRP7 NM_001127255.1(NLRP7):c.*44G>A SNV Uncertain significance 892762 19:55435064-55435064 19:54923696-54923696
34 NLRP7 NM_001127255.1(NLRP7):c.2226C>T (p.Ile742=) SNV Uncertain significance 892800 19:55447703-55447703 19:54936335-54936335
35 NLRP7 NM_001127255.1(NLRP7):c.2204A>G (p.His735Arg) SNV Uncertain significance 892801 19:55447725-55447725 19:54936357-54936357
36 NLRP7 NM_001127255.1(NLRP7):c.2154C>T (p.Thr718=) SNV Uncertain significance 892802 19:55447775-55447775 19:54936407-54936407
37 NLRP7 NM_001127255.1(NLRP7):c.1149G>A (p.Pro383=) SNV Uncertain significance 892830 19:55451038-55451038 19:54939670-54939670
38 NLRP7 NM_001127255.1(NLRP7):c.1111A>G (p.Thr371Ala) SNV Uncertain significance 892831 19:55451076-55451076 19:54939708-54939708
39 NLRP7 NM_001127255.1(NLRP7):c.1104T>G (p.Ile368Met) SNV Uncertain significance 892832 19:55451083-55451083 19:54939715-54939715
40 NLRP7 NM_001127255.1(NLRP7):c.361G>A (p.Glu121Lys) SNV Uncertain significance 892857 19:55451826-55451826 19:54940458-54940458
41 NLRP7 NM_001127255.1(NLRP7):c.278-12A>C SNV Uncertain significance 892858 19:55452385-55452385 19:54941017-54941017
42 NLRP7 NM_001127255.1(NLRP7):c.226G>C (p.Glu76Gln) SNV Uncertain significance 892859 19:55452854-55452854 19:54941486-54941486
43 NLRP7 NM_001127255.1(NLRP7):c.198G>C (p.Trp66Cys) SNV Uncertain significance 892860 19:55452882-55452882 19:54941514-54941514
44 NLRP7 NM_001127255.1(NLRP7):c.184T>G (p.Ser62Ala) SNV Uncertain significance 892861 19:55452896-55452896 19:54941528-54941528
45 NLRP7 NM_001127255.1(NLRP7):c.*20C>T SNV Uncertain significance 893568 19:55435088-55435088 19:54923720-54923720
46 NLRP7 NM_001127255.1(NLRP7):c.749T>G (p.Phe250Cys) SNV Uncertain significance 330178 rs78096121 19:55451438-55451438 19:54940070-54940070
47 NLRP7 NM_001127255.1(NLRP7):c.2373G>A (p.Leu791=) SNV Uncertain significance 330161 rs768473188 19:55445955-55445955 19:54934587-54934587
48 NLRP7 NM_001127255.1(NLRP7):c.1113G>A (p.Thr371=) SNV Uncertain significance 330173 rs531055840 19:55451074-55451074 19:54939706-54939706
49 NLRP7 NM_001127255.1(NLRP7):c.977A>T (p.Glu326Val) SNV Uncertain significance 330175 rs146193856 19:55451210-55451210 19:54939842-54939842
50 NLRP7 NM_001127255.1(NLRP7):c.1488C>T (p.Asp496=) SNV Uncertain significance 330168 rs775944680 19:55450699-55450699 19:54939331-54939331

Expression for Gestational Trophoblastic Neoplasm

Search GEO for disease gene expression data for Gestational Trophoblastic Neoplasm.

Pathways for Gestational Trophoblastic Neoplasm

GO Terms for Gestational Trophoblastic Neoplasm

Cellular components related to Gestational Trophoblastic Neoplasm according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical cortex GO:0045179 8.96 OOEP KHDC3L
2 cell cortex GO:0005938 8.92 TLE6 OOEP NLRP5 KHDC3L

Biological processes related to Gestational Trophoblastic Neoplasm according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.83 PLAGL1 PHLDA2 NLRP2 LGALS1 CGB5
2 positive regulation of JAK-STAT cascade GO:0046427 9.49 CSH2 CSH1
3 replication fork processing GO:0031297 9.48 OOEP KHDC3L
4 animal organ development GO:0048513 9.46 CSH2 CSH1
5 actin filament organization GO:0007015 9.46 TLE6 OOEP NLRP5 KHDC3L
6 positive regulation of double-strand break repair GO:2000781 9.4 OOEP KHDC3L
7 positive regulation of embryonic development GO:0040019 9.37 TLE6 KHDC3L
8 growth hormone receptor signaling pathway GO:0060396 9.32 CSH2 CSH1
9 positive regulation of growth GO:0045927 9.26 CSH2 CSH1
10 regulation of cell division GO:0051302 9.13 TLE6 OOEP NLRP5
11 establishment of spindle localization GO:0051293 8.8 TLE6 OOEP NLRP5

Molecular functions related to Gestational Trophoblastic Neoplasm according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.13 CSH2 CSH1 CGB5
2 growth hormone receptor binding GO:0005131 8.62 CSH2 CSH1

Sources for Gestational Trophoblastic Neoplasm

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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