Details of Disease

General Information of Disease (ID: DISOF3TK)

• Disease Name: Germ cell tumour
• Synonyms: pediatric germ cell cancer; paediatric germ cell cancer; germ cell tumour; germ cell tumor; pediatric germ cell tumor; pediatric germ cell neoplasm; paediatric germ cell tumour; paediatric germ cell neoplasm; childhood germ cell tumor; childhood germ cell neoplasm
• Disease Class: 2C80: Testicular cancer
• Definition: A germ cell tumor that occurs during childhood.
• Disease Hierarchy:
  DIS62070: Germ cell tumor
  DIS3CD3W: Childhood neoplasm
  DISOF3TK: Germ cell tumour
• ICD Code:
  ICD-11: ICD-11: 2C80.2
  Expand ICD-9: 1.83E+11
• Disease Identifiers:
  MONDO ID: MONDO_0003751
  UMLS CUI: C0279014
  MedGen ID: 75907

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 2 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
EGFR806-specific CAR T cell	DM3AD65	Phase 1	CAR T Cell Therapy	[1]
HER2-specific CAR T cell	DMJKBWO	Phase 1	CAR T Cell Therapy	[2]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AFP	TTCFEA1	Strong	Altered Expression	[3]
DFFA	TTYVQ9C	Strong	Biomarker	[4]
JUP	TTREN0G	Strong	Biomarker	[5]
SLAMF7	TT7ILZ1	Strong	Biomarker	[6]

This Disease Is Related to 15 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DND1	OTHLC8TA	Limited	Biomarker	[7]
GDF3	OTD3KGJK	Limited	Genetic Variation	[8]
AKR1E2	OT7GBQEB	Strong	Altered Expression	[9]
ALPG	OTCIM29R	Strong	Biomarker	[10]
CLSTN1	OTQN35G2	Strong	Biomarker	[6]
DHDH	OTKA2AL6	Strong	Altered Expression	[11]
DMRT3	OTNV7F7Q	Strong	Altered Expression	[9]
ITPRID2	OTO3JDX5	Strong	Biomarker	[6]
MYOZ2	OTMEIQJA	Strong	Biomarker	[6]
PAGE1	OT7SQGM8	Strong	Biomarker	[12]
PAGE4	OT2VLWT0	Strong	Biomarker	[12]
PRSS21	OT8ZYC7G	Strong	Biomarker	[13]
SNAI3	OTG9DI66	Strong	Altered Expression	[14]
TSPY1	OTPY57X4	Strong	Biomarker	[15]
TSPY3	OTQK3AKI	Strong	Biomarker	[15]

References

• [1] ClinicalTrials.gov (NCT03638167) EGFR806-specific CAR T Cell Locoregional Immunotherapy for EGFR-positive Recurrent or Refractory Pediatric CNS Tumors
• [2] ClinicalTrials.gov (NCT03500991) HER2-specific CAR T Cell Locoregional Immunotherapy for HER2-positive Recurrent/Refractory Pediatric CNS Tumors
• [3] Epidemiologic study of 230 cases of testicular/paratesticular tumors or masses: 15-year experience of a single center.J Pediatr Surg. 2017 Dec;52(12):2056-2060. doi: 10.1016/j.jpedsurg.2017.08.027. Epub 2017 Sep 4.
• [4] Mutations in the N-terminal domain of DFF45 in a primary germ cell tumor and in neuroblastoma tumors.Int J Oncol. 2004 Nov;25(5):1297-302.
• [5] Identification of testicular cancer driver genes by a cross-species comparative oncology approach.Andrology. 2019 Jul;7(4):545-554. doi: 10.1111/andr.12644. Epub 2019 May 13.
• [6] Economy of Standards: European Association of Urology Guideline Changes Influence Treatment Costs in Stage I Testicular Cancer Patients.Urol Int. 2018;100(3):279-287. doi: 10.1159/000486343. Epub 2018 Mar 7.
• [7] The role of dead-end in germ-cell tumor development.Ann N Y Acad Sci. 2007 Dec;1120:181-6. doi: 10.1196/annals.1411.006. Epub 2007 Sep 28.
• [8] Human STELLAR, NANOG, and GDF3 genes are expressed in pluripotent cells and map to chromosome 12p13, a hotspot for teratocarcinoma.Stem Cells. 2004;22(2):169-79. doi: 10.1634/stemcells.22-2-169.
• [9] Identification of a TSPY co-expression network associated with DNA hypomethylation and tumor gene expression in somatic cancers.J Genet Genomics. 2016 Oct 20;43(10):577-585. doi: 10.1016/j.jgg.2016.09.003. Epub 2016 Sep 17.
• [10] The Y-encoded TSPY protein: a significant marker potentially plays a role in the pathogenesis of testicular germ cell tumors.Hum Pathol. 2007 Oct;38(10):1470-81. doi: 10.1016/j.humpath.2007.03.011. Epub 2007 May 22.
• [11] Dihydrodiol dehydrogenases regulate the generation of reactive oxygen species and the development of cisplatin resistance in human ovarian carcinoma cells.Cancer Chemother Pharmacol. 2008 May;61(6):979-87. doi: 10.1007/s00280-007-0554-0. Epub 2007 Jul 28.
• [12] PAGE-1, an X chromosome-linked GAGE-like gene that is expressed in normal and neoplastic prostate, testis, and uterus.Proc Natl Acad Sci U S A. 1998 Sep 1;95(18):10757-62. doi: 10.1073/pnas.95.18.10757.
• [13] Epigenetic silencing of the putative tumor suppressor gene testisin in testicular germ cell tumors.J Cancer Res Clin Oncol. 2006 Dec;132(12):765-70. doi: 10.1007/s00432-006-0124-6. Epub 2006 Jun 21.
• [14] Identification and characterization of human SNAIL3 (SNAI3) gene in silico.Int J Mol Med. 2003 Mar;11(3):383-8.
• [15] Testis-specific protein Y-encoded gene is expressed in early and late stages of gonadoblastoma and testicular carcinoma in situ.Urol Oncol. 2007 Mar-Apr;25(2):141-6. doi: 10.1016/j.urolonc.2006.08.002.