Details of Disease

General Information of Disease (ID: DIS5MQSB)

• Disease Name: Embryonal neoplasm
• Synonyms: embryonal cancer; EMBT; embryonal tumour; embryo neoplasm; embryonal tumor; embryonal neoplasm
• Definition: A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003
• Disease Hierarchy:
  DISTBY9Z: Tumour
  DIS5MQSB: Embryonal neoplasm
• Disease Identifiers:
  MONDO ID: MONDO_0005564
  MESH ID: D009373
  UMLS CUI: C0027654
  MedGen ID: 45034
  HPO ID: HP:0002898

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CTCFL	TTY0RZT	moderate	Altered Expression	[1]
CD9	TTZEIBV	Strong	Biomarker	[2]
GPC3	TTJTSX4	Strong	Biomarker	[3]
IGF2	TTE8WGO	Strong	Altered Expression	[4]
KITLG	TTDJ51N	Definitive	Biomarker	[5]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC2A3	DT9SQ3L	Strong	Biomarker	[2]

This Disease Is Related to 17 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DPPA2	OT8Y55RY	moderate	Altered Expression	[1]
HTN1	OTH3W1RR	moderate	Biomarker	[6]
ALPG	OTCIM29R	Strong	Biomarker	[7]
BUB1B	OT8KME51	Strong	Biomarker	[8]
DPPA3	OTS7N4Q9	Strong	Biomarker	[2]
GDF3	OTD3KGJK	Strong	Biomarker	[2]
INSM1	OTG8RV8E	Strong	Altered Expression	[9]
NANOG	OTUEY1FM	Strong	Biomarker	[2]
PHC1	OT1JMX8U	Strong	Biomarker	[2]
POU5F1	OTDHHN7O	Strong	Genetic Variation	[10]
SCNN1A	OTE2KVZV	Strong	Biomarker	[2]
SUN2	OT2IQJUC	Strong	Altered Expression	[11]
TRIP13	OTFM3TI9	Strong	Biomarker	[8]
ATF7IP	OTU6ZA7F	Definitive	Biomarker	[12]
DMRT1	OT5PU9U1	Definitive	Biomarker	[12]
ERCC1	OTNPYQHI	Definitive	Biomarker	[13]
ERCC4	OTFIOPG1	Definitive	Biomarker	[13]

References

• [1] Differential expression of the embryo/cancer gene ECSA(DPPA2), the cancer/testis gene BORIS and the pluripotency structural gene OCT4, in human preimplantation development.Mol Hum Reprod. 2008 Jun;14(6):347-55. doi: 10.1093/molehr/gan025. Epub 2008 May 8.
• [2] Retinoic acid represses a cassette of candidate pluripotency chromosome 12p genes during induced loss of human embryonal carcinoma tumorigenicity. Biochim Biophys Acta. 2005 Oct 15;1731(1):48-56. doi: 10.1016/j.bbaexp.2005.08.006. Epub 2005 Sep 1.
• [3] Immunotherapeutic Targeting of GPC3 in Pediatric Solid Embryonal Tumors.Front Oncol. 2019 Feb 26;9:108. doi: 10.3389/fonc.2019.00108. eCollection 2019.
• [4] Altered expression of imprinted genes in Wilms tumors.Oncol Rep. 2011 Mar;25(3):817-23. doi: 10.3892/or.2010.1113. Epub 2010 Dec 20.
• [5] Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer.Nat Genet. 2009 Jul;41(7):811-5. doi: 10.1038/ng.393. Epub 2009 May 31.
• [6] Hidden chromosomal abnormalities in pleuropulmonary blastomas identified by multiplex FISH.BMC Cancer. 2006 Jan 5;6:4. doi: 10.1186/1471-2407-6-4.
• [7] Identification of two molecular groups of seminomas by using expression and tissue microarrays.Clin Cancer Res. 2005 Aug 15;11(16):5722-9. doi: 10.1158/1078-0432.CCR-05-0533.
• [8] Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation. Nat Genet. 2017 Jul;49(7):1148-1151. doi: 10.1038/ng.3883. Epub 2017 May 29.
• [9] INSM1 Expression in Peripheral Neuroblastic Tumors and Other Embryonal Neoplasms.Pediatr Dev Pathol. 2019 Oct;22(5):440-448. doi: 10.1177/1093526619843725. Epub 2019 Apr 11.
• [10] Expression analysis of stem cell-related genes reveal OCT4 as a predictor of poor clinical outcome in medulloblastoma.J Neurooncol. 2012 Jan;106(1):71-9. doi: 10.1007/s11060-011-0647-9. Epub 2011 Jul 2.
• [11] Downregulation of SUN2, a novel tumor suppressor, mediates miR-221/222-induced malignancy in central nervous system embryonal tumors.Carcinogenesis. 2014 Oct;35(10):2164-74. doi: 10.1093/carcin/bgu105. Epub 2014 May 15.
• [12] Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.Nat Genet. 2010 Jul;42(7):604-7. doi: 10.1038/ng.607. Epub 2010 Jun 13.
• [13] ERCC1 and XPF expression in human testicular germ cell tumors.Oncol Rep. 2010 Jan;23(1):223-7.