Details of Disease

General Information of Disease (ID: DIS4EJNA)

• Disease Name: Gestational trophoblastic neoplasia
• Synonyms: molar pregnancy; hydatidiform mole; gestational trophoblastic disease; GTT; gestational trophoblastic tumour; gestational trophoblastic neoplasia; gestational trophoblastic tumor; GTN
• Disease Class: 2F33-2F76: Gynecologic cancer
• Definition: A diverse group of pregnancy-related tumors characterized by excessive proliferation of trophoblasts. Representative examples include hydatidiform mole, gestational choriocarcinoma, and placental site trophoblastic tumor.
• Disease Hierarchy:
  DISY8WKT: Trophoblastic neoplasm
  DISDVNRY: Female reproductive system neoplasm
  DIS5V7J6: Pregnancy disorder
  DIS4EJNA: Gestational trophoblastic neoplasia
• ICD Code: ICD-11: ICD-11: 2F33-2F76
• Disease Identifiers:
  MONDO ID: MONDO_0018944
  MESH ID: D031901
  UMLS CUI: C1135868
  MedGen ID: 210107
  Orphanet ID: 59305
  SNOMED CT ID: 609517002

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 3 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Dactinomycin	DM2YGNW	Approved	Small molecular drug	[1]
Methotrexate	DM2TEOL	Approved	Small molecular drug	[2]
Vinblastine	DM5TVS3	Approved	Small molecular drug	[3]

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
TRC105	DM1874J	Phase 3	Monoclonal antibody	[4]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PAK2	TT279WO	Strong	Altered Expression	[5]
QPCT	TTJ7YTV	Strong	Biomarker	[6]
USP14	TTVSYP9	Strong	Genetic Variation	[7]

This Disease Is Related to 19 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AKIRIN2	OTQ6WSKW	Strong	Altered Expression	[8]
DOC2A	OT5G9V94	Strong	Altered Expression	[9]
ERV3-1	OT4CW64T	Strong	Altered Expression	[10]
FTL	OTYQA8A6	Strong	Biomarker	[11]
GLYAT	OT3WWYXD	Strong	Genetic Variation	[12]
KHDC3L	OTJ7M1OH	Strong	Genetic Variation	[13]
KIF7	OT1J6NAW	Strong	Biomarker	[14]
MGAT4A	OT0ZW5FM	Strong	Altered Expression	[15]
NCR3LG1	OT15YWU7	Strong	Biomarker	[16]
NLRP7	OTE9BI32	Strong	Genetic Variation	[13]
PCTP	OTM36JXE	Strong	Altered Expression	[17]
PDS5B	OT3U3X8Z	Strong	Biomarker	[13]
PEG3	OTHQW98S	Strong	Altered Expression	[18]
POU5F1	OTDHHN7O	Strong	Biomarker	[19]
PPP1R13B	OTC88VQO	Strong	Biomarker	[20]
PSG6	OTUURZG3	Strong	Altered Expression	[21]
QTRT1	OTC33MCV	Strong	Genetic Variation	[7]
STARD7	OTDUZ296	Strong	Altered Expression	[17]
TP53BP2	OTOWJ2Y4	Strong	Biomarker	[20]

References

• [1] Dactinomycin FDA Label
• [2] Methotrexate FDA Label
• [3] Vinblastine FDA Label
• [4] Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
• [5] p21-Activated kinase-1 promotes aggressive phenotype, cell proliferation, and invasion in gestational trophoblastic disease.Am J Pathol. 2010 Jun;176(6):3015-22. doi: 10.2353/ajpath.2010.091263. Epub 2010 Apr 22.
• [6] Pathogenicity of A600V variant in exon 12 of the MSH2 gene detected in a Japanese kindred with Lynch syndrome.Jpn J Clin Oncol. 2012 Jan;42(1):78-82. doi: 10.1093/jjco/hyr162. Epub 2011 Nov 14.
• [7] K-ras point mutation occurs in the early stage of carcinogenesis in lung cancer.Br J Cancer. 1998 Mar;77(5):720-3. doi: 10.1038/bjc.1998.118.
• [8] FBI-1 Is Overexpressed in Gestational Trophoblastic Disease and Promotes Tumor Growth and Cell Aggressiveness of Choriocarcinoma via PI3K/Akt Signaling.Am J Pathol. 2015 Jul;185(7):2038-48. doi: 10.1016/j.ajpath.2015.03.011.
• [9] DOC-2/hDab2, a candidate tumor suppressor gene involved in the development of gestational trophoblastic diseases.Oncogene. 1998 Jul 30;17(4):419-24. doi: 10.1038/sj.onc.1201955.
• [10] Expression patterns of ERVWE1/Syncytin-1 and other placentally expressed human endogenous retroviruses along the malignant transformation process of hydatidiform moles.Placenta. 2016 Mar;39:116-24. doi: 10.1016/j.placenta.2016.01.011. Epub 2016 Jan 14.
• [11] Differential expression of insulin-like growth factor binding protein 1 and ferritin light polypeptide in gestational trophoblastic neoplasia: combined cDNA suppression subtractive hybridization and microarray study.Cancer. 2005 Dec 1;104(11):2409-16. doi: 10.1002/cncr.21483.
• [12] Proliferative potential and K-ras mutation in epithelial hyperplasia of the gallbladder in patients with anomalous pancreaticobiliary ductal union.Cancer. 1998 Jul 15;83(2):267-75.
• [13] Hepatic toxicity following actinomycin D chemotherapy in treatment of familial gestational trophoblastic neoplasia: A case report.Medicine (Baltimore). 2018 Sep;97(38):e12424. doi: 10.1097/MD.0000000000012424.
• [14] Downregulation of the gli transcription factors regulator Kif7 facilitates cell survival and migration of choriocarcinoma cells.PLoS One. 2014 Sep 29;9(9):e108248. doi: 10.1371/journal.pone.0108248. eCollection 2014.
• [15] N-acetylglucosaminyltransferase IVa promotes invasion of choriocarcinoma.Oncol Rep. 2017 Jul;38(1):440-448. doi: 10.3892/or.2017.5661. Epub 2017 May 23.
• [16] PD-L1, B7-H3 and VISTA are highly expressed in gestational trophoblastic neoplasia.Histopathology. 2019 Sep;75(3):421-430. doi: 10.1111/his.13882. Epub 2019 Jul 12.
• [17] GTT1/StarD7, a novel phosphatidylcholine transfer protein-like highly expressed in gestational trophoblastic tumour: cloning and characterization.Placenta. 2004 Jan;25(1):37-44. doi: 10.1016/S0143-4004(03)00214-5.
• [18] Identification of multiple differentially expressed messenger RNAs in normal and pathological trophoblast.Placenta. 2003 Feb-Mar;24(2-3):209-18. doi: 10.1053/plac.2002.0885.
• [19] Oct4 is epigenetically regulated by methylation in normal placenta and gestational trophoblastic disease.Placenta. 2008 Jun;29(6):549-54. doi: 10.1016/j.placenta.2008.03.003. Epub 2008 Apr 28.
• [20] Overexpression of iASPP is required for autophagy in response to oxidative stress in choriocarcinoma.BMC Cancer. 2019 Oct 15;19(1):953. doi: 10.1186/s12885-019-6206-z.
• [21] Linkage of two human pregnancy-specific beta 1-glycoprotein genes: one is associated with hydatidiform mole.Proc Natl Acad Sci U S A. 1990 Aug;87(15):5822-6. doi: 10.1073/pnas.87.15.5822.