Details of Disease

Disease Name

Testicular germ cell tumor

seminoma; Male germ cell tumor; testicular germ cell cancer; teratoma, testicular; embryonal cell carcinoma; endodermal sinus tumor; nonseminomatous germ cell tumors; Male germ cell tumour; endodermal sinus tumour; nonseminomatous germ cell tumours; spermatocytic seminoma; testicular tumor, somatic; testis germ cell tumour; testicular germ cell neoplasms; spermatocytic seminoma, somatic; germ cell tumor of testis; testis germ cell tumor; germ cell tumour of testis; male germ cell tumor, somatic; germ cell tumor of the testis; testicular germ cell tumor; TGCT; germ cell tumour of the testis; testicular germ cell neoplasm; germ cell tumors, somatic; germ cell neoplasm of testis; germ cell neoplasm of the testis

Definition

A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.

Disease Hierarchy

DISV4S22: Gonadal germ cell tumor

DIS62070: Germ cell tumor

DISK4XHT: Neoplasm of testis

DIS5RN24: Testicular germ cell tumor

Disease Identifiers

MONDO ID

MONDO_0010108

MESH ID

C563236

UMLS CUI

C1336708

OMIM ID

273300

MedGen ID

277809

Orphanet ID

363504

SNOMED CT ID

713577007

General Information of Disease (ID: DIS5RN24)

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 6 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Bleomycin	DMNER5S	Approved	Small molecular drug	[1]
Cisplatin	DMRHGI9	Approved	Small molecular drug	[2]
Ifosfamide	DMCT3I8	Approved	Small molecular drug	[3]
Mesna	DMXDHHH	Approved	Small molecular drug	[4]
Paclitaxel	DMLB81S	Approved	Small molecular drug	[5]
Vinblastine	DM5TVS3	Approved	Small molecular drug	[6]
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⏷ Show the Full List of 6 Drug(s)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 29 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ALOX12B	TTQ4QQH	Limited	Biomarker	[7]
ALOX5	TTSJ6Q4	Limited	Biomarker	[7]
MMP2	TTLM12X	Limited	Biomarker	[8]
HPGDS	TTCYE56	moderate	Genetic Variation	[9]
KIT	TTX41N9	moderate	Biomarker	[10]
AFP	TTCFEA1	Strong	Biomarker	[11]
ARAF	TT5TURO	Strong	Biomarker	[12]
BAK1	TTFM7V0	Strong	Genetic Variation	[9]
CDA	TTQ12RK	Strong	Posttranslational Modification	[13]
CDKL2	TTMO45N	Strong	Genetic Variation	[9]
CENPE	TTZD5QR	Strong	Genetic Variation	[9]
CGB3	TTUH273	Strong	Biomarker	[11]
CSF1	TT0IQER	Strong	Biomarker	[14]
CSF1R	TT7MRDV	Strong	Altered Expression	[15]
DNMT3L	TT3FDAV	Strong	Altered Expression	[16]
FGFR3	TTST7KB	Strong	Genetic Variation	[17]
FSHR	TTZFDBT	Strong	Genetic Variation	[18]
GATA4	TT1VDN2	Strong	Genetic Variation	[9]
GDF5	TT37XV9	Strong	Genetic Variation	[19]
HSD17B4	TTL1WGS	Strong	Genetic Variation	[20]
JUP	TTREN0G	Strong	Altered Expression	[21]
KIF20B	TTQECT2	Strong	Biomarker	[22]
KITLG	TTDJ51N	Strong	Genetic Variation	[9]
MAD1L1	TTNE9U7	Strong	Genetic Variation	[9]
PDE11A	TTTWC79	Strong	Genetic Variation	[23]
PDE8A	TTIS4OW	Strong	Genetic Variation	[9]
PIK3CD	TTGBPJE	Strong	Altered Expression	[24]
SLAMF7	TT7ILZ1	Strong	Genetic Variation	[25]
TKTL1	TTNQ1J3	Strong	Genetic Variation	[26]
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⏷ Show the Full List of 29 DTT(s)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
UCK2	DETN1O0	Strong	Genetic Variation	[9]
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This Disease Is Related to 56 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DAZL	OTZMTD4R	Limited	Biomarker	[27]
SPRY4	OT2VK9N0	Limited	Genetic Variation	[28]
STK10	OTC33Y2F	Limited	Genetic Variation	[29]
A1CF	OTJBKFA1	Strong	Biomarker	[13]
ADGRG6	OTY2UBXO	Strong	Biomarker	[30]
AIFM3	OTSWKCAO	Strong	Genetic Variation	[9]
ALDH1A3	OT1C9NKQ	Strong	Altered Expression	[31]
APOBEC1	OTY8QX2R	Strong	Biomarker	[13]
APOLD1	OTGJ4X9N	Strong	Biomarker	[32]
ARF3	OTYYQX85	Strong	Biomarker	[33]
ATF7IP	OTU6ZA7F	Strong	Genetic Variation	[9]
BCL10	OT47MCLI	Strong	Genetic Variation	[34]
BMERB1	OT1IH086	Strong	Genetic Variation	[9]
CLSTN1	OTQN35G2	Strong	Genetic Variation	[25]
CLUL1	OTYIXQ36	Strong	Genetic Variation	[9]
CSH1	OT33HTRR	Strong	Genetic Variation	[25]
CSH2	OTW8JVAN	Strong	Genetic Variation	[25]
DAZ3	OT3JIRRJ	Strong	Genetic Variation	[35]
DNAAF1	OTYLQLHO	Strong	Genetic Variation	[36]
DND1	OTHLC8TA	Strong	Genetic Variation	[37]
ENTPD5	OTFH05B9	Strong	Altered Expression	[38]
GAB2	OTBFN705	Strong	Genetic Variation	[39]
GCNT1	OTF6OC66	Strong	Biomarker	[40]
GPR160	OTMXJT73	Strong	Genetic Variation	[26]
GRB7	OTF8Y9XY	Strong	Altered Expression	[21]
GSPT1	OT18H1B0	Strong	Genetic Variation	[39]
HNF1B	OTSYIC3T	Strong	Genetic Variation	[9]
HSPA4L	OT181WZB	Strong	Biomarker	[30]
ITPRID2	OTO3JDX5	Strong	Genetic Variation	[25]
LHPP	OT9AGAIJ	Strong	Genetic Variation	[26]
MCM3AP	OT895FEC	Strong	Genetic Variation	[9]
MYOZ2	OTMEIQJA	Strong	Genetic Variation	[25]
NLRP7	OTE9BI32	Strong	Biomarker	[41]
PEG3	OTHQW98S	Strong	Biomarker	[42]
PITX1	OTA0UN4C	Strong	Biomarker	[27]
PIWIL2	OT1PXQIF	Strong	Biomarker	[43]
PIWIL4	OTDA9MY0	Strong	Biomarker	[44]
PPM1E	OTXRH3YA	Strong	Genetic Variation	[45]
PRDM14	OTWZKY4L	Strong	Genetic Variation	[9]
RAB1B	OTAFCUAS	Strong	Biomarker	[33]
RAB6B	OT5N57RK	Strong	Biomarker	[33]
RAD51C	OTUD6SY5	Strong	Genetic Variation	[45]
RAP1B	OTHEIIMM	Strong	Biomarker	[33]
RAP2B	OTD2NDQP	Strong	Biomarker	[33]
RESF1	OTQIZIJF	Strong	Genetic Variation	[9]
RFWD3	OTDUULBQ	Strong	Genetic Variation	[9]
SLC25A44	OTHHPC3C	Strong	Genetic Variation	[9]
SPANXA1	OTMK3QIS	Strong	Altered Expression	[46]
STK11	OT1YZSP3	Strong	Genetic Variation	[47]
TDRD1	OT0CBCI3	Strong	Biomarker	[48]
TEX14	OTBL9LPZ	Strong	Genetic Variation	[45]
TFCP2L1	OT7QIJ0X	Strong	Biomarker	[49]
TFDP2	OTKQFX5H	Strong	Genetic Variation	[9]
TIPIN	OT9PZHXV	Strong	Genetic Variation	[26]
TRIM44	OT0B1T2B	Strong	Biomarker	[50]
TRO	OTRZQMU8	Strong	Biomarker	[51]
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⏷ Show the Full List of 56 DOT(s)

References

1	Bleomycin FDA Label
2	Cisplatin FDA Label
3	Ifosfamide FDA Label
4	Mesna FDA Label
5	Paclitaxel FDA Label
6	Vinblastine FDA Label
7	Mitochondrial uncoupling reveals a novel therapeutic opportunity for p53-defective cancers. Nat Commun. 2018 Sep 26;9(1):3931.
8	Mono-(2-ethylhexyl) phthalate (MEHP) promotes invasion and migration of human testicular embryonal carcinoma cells.Biol Reprod. 2012 May 31;86(5):160, 1-10. doi: 10.1095/biolreprod.111.097295. Print 2012 May.
9	Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor.Nat Genet. 2017 Jul;49(7):1133-1140. doi: 10.1038/ng.3896. Epub 2017 Jun 12.
10	The genomic landscape of testicular germ cell tumours: from susceptibility to treatment.Nat Rev Urol. 2016 Jul;13(7):409-19. doi: 10.1038/nrurol.2016.107. Epub 2016 Jun 14.
11	MiR-371a-3p Serum Levels Are Increased in Recurrence of Testicular Germ Cell Tumor Patients.Int J Mol Sci. 2018 Oct 12;19(10):3130. doi: 10.3390/ijms19103130.
12	The roles of supernumerical X chromosomes and XIST expression in testicular germ cell tumors.J Urol. 2003 Apr;169(4):1546-52. doi: 10.1097/01.ju.0000044927.23323.5a.
13	Parent-of-origin effects of A1CF and AGO2 on testicular germ-cell tumors, testicular abnormalities, and fertilization bias.Proc Natl Acad Sci U S A. 2016 Sep 13;113(37):E5425-33. doi: 10.1073/pnas.1604773113. Epub 2016 Aug 31.
14	Pexidartinib versus placebo for advanced tenosynovial giant cell tumour (ENLIVEN): a randomised phase 3 trial.Lancet. 2019 Aug 10;394(10197):478-487. doi: 10.1016/S0140-6736(19)30764-0. Epub 2019 Jun 19.
15	Clinical characteristics and treatment outcomes in six cases of malignant tenosynovial giant cell tumor: initial experience of molecularly targeted therapy.BMC Cancer. 2018 Dec 29;18(1):1296. doi: 10.1186/s12885-018-5188-6.
16	DNA methyltransferase-3 like protein expression in various histological types of testicular germ cell tumor.Jpn J Clin Oncol. 2016 May;46(5):475-81. doi: 10.1093/jjco/hyw012. Epub 2016 Feb 24.
17	Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.Nat Genet. 2009 Nov;41(11):1247-52. doi: 10.1038/ng.470. Epub 2009 Oct 25.
18	Analysis of single nucleotide polymorphisms of FSH receptor gene suggests association with testicular cancer susceptibility.Endocr Relat Cancer. 2008 Jun;15(2):429-37. doi: 10.1677/ERC-07-0257. Epub 2008 Apr 22.
19	Genetic contributions to the association between adult height and testicular germ cell tumors.Int J Epidemiol. 2011 Jun;40(3):731-9. doi: 10.1093/ije/dyq260. Epub 2011 Jan 13.
20	Association of testicular germ cell tumor with polymorphisms in estrogen receptor and steroid metabolism genes.Endocr Relat Cancer. 2010 Jan 29;17(1):17-25. doi: 10.1677/ERC-09-0176. Print 2010 Mar.
21	Candidate genes for testicular cancer evaluated by in situ protein expression analyses on tissue microarrays.Neoplasia. 2003 Sep-Oct;5(5):397-404. doi: 10.1016/s1476-5586(03)80042-8.
22	Clinicopathological Significance and Antitumor Effect of MPHOSPH1 in Testicular Germ Cell Tumor.J Cancer. 2018 Oct 31;9(23):4440-4448. doi: 10.7150/jca.25279. eCollection 2018.
23	Rare inactivating PDE11A variants associated with testicular germ cell tumors.Endocr Relat Cancer. 2015 Dec;22(6):909-17. doi: 10.1530/ERC-15-0034.
24	Knockdown of SPRY4 and SPRY4-IT1 inhibits cell growth and phosphorylation of Akt in human testicular germ cell tumours.Sci Rep. 2018 Feb 6;8(1):2462. doi: 10.1038/s41598-018-20846-8.
25	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.
26	Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor.Nat Genet. 2017 Jul;49(7):1141-1147. doi: 10.1038/ng.3879. Epub 2017 Jun 12.
27	Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.Nat Genet. 2013 Jun;45(6):686-9. doi: 10.1038/ng.2635. Epub 2013 May 12.
28	Genes associated with testicular germ cell tumors and testicular dysgenesis in patients with testicular microlithiasis.Asian J Androl. 2018 Nov-Dec;20(6):593-599. doi: 10.4103/aja.aja_54_18.
29	Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults.Genes Chromosomes Cancer. 2006 Jan;45(1):42-6. doi: 10.1002/gcc.20265.
30	Expression of Apg-1, a member of the Hsp110 family, in the human testis and sperm.Int J Urol. 2001 Jun;8(6):308-14. doi: 10.1046/j.1442-2042.2001.00304.x.
31	Disulfiram Overcomes Cisplatin Resistance in Human Embryonal Carcinoma Cells.Cancers (Basel). 2019 Aug 22;11(9):1224. doi: 10.3390/cancers11091224.
32	Genome-wide DNA methylation profiling reveals novel epigenetically regulated genes and non-coding RNAs in human testicular cancer.Br J Cancer. 2010 Jan 19;102(2):419-27. doi: 10.1038/sj.bjc.6605505. Epub 2010 Jan 5.
33	Overexpression of RhoA mRNA is associated with advanced stage in testicular germ cell tumour.BJU Int. 2001 Feb;87(3):227-31. doi: 10.1046/j.1464-410x.2001.02030.x.
34	Association of BCL10 germ line polymorphisms on chromosome 1p with advanced stage testicular germ cell tumor patients.Cancer Lett. 2006 Aug 18;240(1):41-7. doi: 10.1016/j.canlet.2005.08.019. Epub 2005 Oct 17.
35	A physical analysis of the Y chromosome shows no additional deletions, other than Gr/Gr, associated with testicular germ cell tumour.Br J Cancer. 2007 Jan 29;96(2):357-61. doi: 10.1038/sj.bjc.6603557. Epub 2007 Jan 9.
36	Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility.Nat Commun. 2016 Dec 20;7:13840. doi: 10.1038/ncomms13840.
37	Screening for germline DND1 mutations in testicular cancer patients.Fam Cancer. 2010 Sep;9(3):439-42. doi: 10.1007/s10689-010-9340-y.
38	PCPH expression is an early event in the development of testicular germ cell tumors.Int J Oncol. 2006 Mar;28(3):595-604.
39	Identification of four new susceptibility loci for testicular germ cell tumour.Nat Commun. 2015 Oct 27;6:8690. doi: 10.1038/ncomms9690.
40	Core 2 N-acetylglucosaminyltransferase-1 expression induces aggressive potential of testicular germ cell tumor.Int J Cancer. 2010 Sep 1;127(5):1052-9. doi: 10.1002/ijc.25117.
41	Oncogenic role of NALP7 in testicular seminomas.Cancer Sci. 2004 Dec;95(12):949-54. doi: 10.1111/j.1349-7006.2004.tb03182.x.
42	Loss of miR-514a-3p regulation of PEG3 activates the NF-kappa B pathway in human testicular germ cell tumors.Cell Death Dis. 2017 May 4;8(5):e2759. doi: 10.1038/cddis.2016.464.
43	Expression profiles of PIWIL2 short isoforms differ in testicular germ cell tumors of various differentiation subtypes.PLoS One. 2014 Nov 10;9(11):e112528. doi: 10.1371/journal.pone.0112528. eCollection 2014.
44	Profiling of the small RNA populations in human testicular germ cell tumors shows global loss of piRNAs.Mol Cancer. 2015 Aug 12;14:153. doi: 10.1186/s12943-015-0411-4.
45	Meta-analysis identifies four new loci associated with testicular germ cell tumor.Nat Genet. 2013 Jun;45(6):680-5. doi: 10.1038/ng.2634. Epub 2013 May 12.
46	Expression of SpanX mRNA in testicular germ cell tumors.Hum Cell. 2006 Aug;19(3):87-90. doi: 10.1111/j.1749-0774.2006.00014.x.
47	Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.Hum Mol Genet. 1999 Jan;8(1):45-51. doi: 10.1093/hmg/8.1.45.
48	Epigenetic loss of the PIWI/piRNA machinery in human testicular tumorigenesis.Epigenetics. 2014 Jan;9(1):113-8. doi: 10.4161/epi.27237. Epub 2013 Nov 18.
49	Validation of loci at 2q14.2 and 15q21.3 as risk factors for testicular cancer.Oncotarget. 2017 Dec 7;9(16):12630-12638. doi: 10.18632/oncotarget.23117. eCollection 2018 Feb 27.
50	A novel prognostic factor TRIM44 promotes cell proliferation and migration, and inhibits apoptosis in testicular germ cell tumor.Cancer Sci. 2017 Jan;108(1):32-41. doi: 10.1111/cas.13105. Epub 2016 Dec 1.
51	Functional correlation of trophinin expression with the malignancy of testicular germ cell tumor.Cancer Res. 2004 Jun 15;64(12):4257-62. doi: 10.1158/0008-5472.CAN-04-0732.