Details of Disease

Disease Name

seminoma, pure; seminoma, malignant; seminoma

Definition

A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes.

Disease Hierarchy

DISTDR2M: Malignant germ cell tumor

:

DIS3J8LJ: Seminoma

Disease Identifiers

MONDO ID

MONDO_0003001

MESH ID

D018239

UMLS CUI

C0036631

MedGen ID

11371

SNOMED CT ID

1162765005

General Information of Disease (ID: DIS3J8LJ)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 28 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CSE1L	TTTRULD	Limited	Biomarker	[1]
FGF4	TTCEKVZ	Limited	Biomarker	[2]
PRAME	TTPH7T0	Limited	Biomarker	[3]
PSMD10	TT2H4LN	Limited	Altered Expression	[4]
ACVR1	TTJNBQA	Strong	Biomarker	[5]
ACVR1B	TTPKHTZ	Strong	Biomarker	[5]
ACVR2B	TTLFRKS	Strong	Biomarker	[5]
CGB3	TTUH273	Strong	Biomarker	[6]
FGFR3	TTST7KB	Strong	Biomarker	[7]
HMBS	TTT0HW3	Strong	Altered Expression	[8]
HRAS	TT28ZON	Strong	Biomarker	[7]
IFNGR2	TT13TL0	Strong	Biomarker	[9]
IGF2	TTE8WGO	Strong	Biomarker	[10]
KDM3A	TTKXS4A	Strong	Biomarker	[11]
KLK5	TTULSEW	Strong	Altered Expression	[12]
LHCGR	TT2O4W9	Strong	Genetic Variation	[13]
MAGEA1	TT63M7Q	Strong	Biomarker	[14]
MAGEA3	TTWSKHD	Strong	Altered Expression	[14]
MAGEC2	TTKGUEB	Strong	Biomarker	[15]
NEK2	TT3VZ24	Strong	Altered Expression	[16]
NODAL	TTK2O1Q	Strong	Biomarker	[17]
PGD	TTZ3IFB	Strong	Genetic Variation	[18]
POLB	TTA0XPV	Strong	Altered Expression	[19]
PTPN13	TT405FP	Strong	Biomarker	[20]
RHO	TTH0KSX	Strong	Genetic Variation	[21]
TDGF1	TTN7HMG	Strong	Biomarker	[22]
TIGIT	TTWNL74	Strong	Biomarker	[23]
UBC	TTBP3XA	Strong	Altered Expression	[8]
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⏷ Show the Full List of 28 DTT(s)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC2A5	DTOR02F	Strong	Biomarker	[24]
SLC43A1	DTBMSWG	Strong	Altered Expression	[25]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
LDHC	DEQG7F9	Strong	Biomarker	[26]
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This Disease Is Related to 74 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DDX4	OTQOV093	Limited	Altered Expression	[27]
DMRT1	OT5PU9U1	Limited	Altered Expression	[28]
PIWIL1	OT7CRGZ3	Limited	Altered Expression	[27]
PIWIL4	OTDA9MY0	Limited	Altered Expression	[27]
SNED1	OTBQVXY5	Limited	Biomarker	[29]
TET1	OTZDHT1D	Limited	Altered Expression	[30]
TSPY3	OTQK3AKI	Limited	Altered Expression	[31]
POU5F1	OTDHHN7O	moderate	Biomarker	[32]
ALPG	OTCIM29R	Strong	Biomarker	[33]
ATP1A4	OT9PLMBH	Strong	Altered Expression	[34]
CBX3	OTOP9RLD	Strong	Altered Expression	[35]
CBX5	OT8VYY84	Strong	Altered Expression	[35]
CENPA	OT0NEJ4X	Strong	Biomarker	[36]
CKS1B	OTNUPLUJ	Strong	Biomarker	[37]
CLGN	OTEWVFQV	Strong	Altered Expression	[38]
CSH1	OT33HTRR	Strong	Biomarker	[39]
CSH2	OTW8JVAN	Strong	Biomarker	[39]
CT45A1	OT80VTZO	Strong	Altered Expression	[15]
DDX1	OT3U8FD0	Strong	Altered Expression	[40]
DDX3Y	OTKL1FNX	Strong	Biomarker	[41]
DNAAF1	OTYLQLHO	Strong	Biomarker	[42]
DPPA4	OTAEOACS	Strong	Altered Expression	[20]
EEF1A1	OT00THXS	Strong	Altered Expression	[43]
ENTPD6	OT94M6A7	Strong	Biomarker	[44]
EOMES	OTB9VQFA	Strong	Biomarker	[45]
ERVW-1	OTWV8DXJ	Strong	Altered Expression	[46]
ETNK1	OTDKB4DQ	Strong	Genetic Variation	[47]
FAM50B	OTP3H38A	Strong	Altered Expression	[48]
FXYD5	OT81DIOD	Strong	Altered Expression	[49]
GCM1	OT5CPAUT	Strong	Altered Expression	[46]
GDF3	OTD3KGJK	Strong	Altered Expression	[50]
GH2	OT32TR4C	Strong	Altered Expression	[39]
GOLT1B	OTC6QPW3	Strong	Altered Expression	[51]
GTF2H2	OTK72L9I	Strong	Altered Expression	[52]
HERC5	OTZ5PR39	Strong	Biomarker	[53]
HPX	OT14T7Q1	Strong	Biomarker	[54]
IFI44	OTOKSZVA	Strong	Altered Expression	[52]
INHA	OT7HWCO3	Strong	Biomarker	[55]
INTS13	OTWE6180	Strong	Altered Expression	[51]
IRX1	OT0ZN9EJ	Strong	Biomarker	[20]
KIF3B	OT0HJREB	Strong	Altered Expression	[56]
KIFC1	OTNQDS00	Strong	Biomarker	[57]
MCFD2	OTM0XU0U	Strong	Altered Expression	[58]
MOS	OTNMQPFJ	Strong	Altered Expression	[59]
NANOG	OTUEY1FM	Strong	Genetic Variation	[60]
NLRP7	OTE9BI32	Strong	Altered Expression	[61]
NR6A1	OTFZOOQ9	Strong	Genetic Variation	[20]
NRM	OTK7F9XZ	Strong	Altered Expression	[62]
NXF2	OTJS5KTH	Strong	Altered Expression	[15]
PATZ1	OT0X9WGR	Strong	Biomarker	[63]
PIWIL2	OT1PXQIF	Strong	Altered Expression	[64]
PLAA	OTZ7NJGA	Strong	Biomarker	[65]
POU2AF1	OTOO6WHL	Strong	Altered Expression	[58]
PRAP1	OT48QD82	Strong	Altered Expression	[66]
PRDM14	OTWZKY4L	Strong	Biomarker	[67]
PRM3	OT6574BF	Strong	Altered Expression	[68]
RAD17	OT1I93DT	Strong	Genetic Variation	[69]
RAD9B	OTEFWVVE	Strong	Biomarker	[70]
RNF20	OT9NK6ZT	Strong	Biomarker	[71]
RPS27A	OTIIGGZ2	Strong	Altered Expression	[8]
SAGE1	OT4H6FFA	Strong	Altered Expression	[15]
SART3	OTC1AM7S	Strong	Altered Expression	[72]
SEM1	OTASLBM1	Strong	Biomarker	[73]
SNRPN	OTQB1ID1	Strong	Biomarker	[74]
SOX17	OT9H4WWE	Strong	Altered Expression	[75]
SPANXA1	OTMK3QIS	Strong	Altered Expression	[76]
SPIN1	OT69VAOX	Strong	Altered Expression	[77]
SPIN3	OT5PTQSH	Strong	Altered Expression	[77]
SSX2	OT2Z6RLL	Strong	Altered Expression	[15]
TCFL5	OTJL4348	Strong	Altered Expression	[38]
TFAP2C	OTUDIW05	Strong	Altered Expression	[78]
TPD52	OTPKSK43	Strong	Altered Expression	[79]
TSKS	OT5LZ6GG	Strong	Altered Expression	[80]
TSPY1	OTPY57X4	Strong	Altered Expression	[31]
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⏷ Show the Full List of 74 DOT(s)

References

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27	Distinguishing epigenetic features of preneoplastic testis tissues adjacent to seminomas and nonseminomas.Oncotarget. 2016 Apr 19;7(16):22439-47. doi: 10.18632/oncotarget.7074.
28	Protein expression of the transcription factors DMRT1, TCLF5, and OCT4 in selected germ cell neoplasms of the testis.Hum Pathol. 2018 Dec;82:68-75. doi: 10.1016/j.humpath.2018.07.019. Epub 2018 Jul 29.
29	Somatostatin receptor expression profile as a potential criterion for discrimination between seminoma and non-seminoma testicular tumors.Cancer Detect Prev. 2001;25(5):446-53.
30	Overexpression of TET dioxygenases in seminomas associates with low levels of DNA methylation and hydroxymethylation.Mol Carcinog. 2017 Aug;56(8):1837-1850. doi: 10.1002/mc.22638. Epub 2017 May 24.
31	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.
32	Protein Expression of PTTG-1, OCT-4, and KLF-4 in Seminoma: A Pilot Study.Front Endocrinol (Lausanne). 2019 Sep 11;10:619. doi: 10.3389/fendo.2019.00619. eCollection 2019.
33	Regenerating I messenger RNA and protein expression in the failing human testis: a potential molecular prognostic marker of seminoma.Hum Pathol. 2011 Dec;42(12):1841-8. doi: 10.1016/j.humpath.2010.05.033. Epub 2011 Jun 17.
34	Reduced semen quality in patients with testicular cancer seminoma is associated with alterations in the expression of sperm proteins.Asian J Androl. 2020 Jan-Feb;22(1):88-93. doi: 10.4103/aja.aja_17_19.
35	Heterochromatin marks HP1, HP1 and H3K9me3, and DNA damage response activation in human testis development and germ cell tumours.Int J Androl. 2011 Aug;34(4 Pt 2):e103-13. doi: 10.1111/j.1365-2605.2010.01096.x. Epub 2010 Aug 1.
36	Gene expression profiling identifies new biological markers of neoplastic germ cells.Anticancer Res. 2007 Sep-Oct;27(5A):3091-100.
37	Altered expression of p27(Kip1) -interacting cell-cycle regulators in the adult testicular germ cell tumors: potential role in tumor development and histological progression.APMIS. 2012 Nov;120(11):890-900. doi: 10.1111/j.1600-0463.2012.02919.x. Epub 2012 May 24.
38	Genomic and expression profiling of human spermatocytic seminomas: primary spermatocyte as tumorigenic precursor and DMRT1 as candidate chromosome 9 gene.Cancer Res. 2006 Jan 1;66(1):290-302. doi: 10.1158/0008-5472.CAN-05-2936.
39	The testis-specific expression pattern of the growth hormone/placental lactogen (GH/PL) gene cluster changes with malignancy.Hum Pathol. 1999 Oct;30(10):1201-6. doi: 10.1016/s0046-8177(99)90038-2.
40	DDX1 is required for testicular tumorigenesis, partially through the transcriptional activation of 12p stem cell genes.Oncogene. 2009 May 28;28(21):2142-51. doi: 10.1038/onc.2009.89. Epub 2009 Apr 27.
41	AZFa protein DDX3Y is differentially expressed in human male germ cells during development and in testicular tumours: new evidence for phenotypic plasticity of germ cells.Hum Reprod. 2012 Jun;27(6):1547-55. doi: 10.1093/humrep/des047. Epub 2012 Mar 30.
42	Mutations in LRRC50 predispose zebrafish and humans to seminomas.PLoS Genet. 2013 Apr;9(4):e1003384. doi: 10.1371/journal.pgen.1003384. Epub 2013 Apr 11.
43	The human Y-encoded testis-specific protein interacts functionally with eukaryotic translation elongation factor eEF1A, a putative oncoprotein.Int J Cancer. 2008 Oct 1;123(7):1573-85. doi: 10.1002/ijc.23697.
44	Ectonucleoside triphosphate diphosphohydrolase 6 expression in testis and testicular cancer and its implication in cisplatin resistance.Oncol Rep. 2011 Jul;26(1):161-7. doi: 10.3892/or.2011.1274. Epub 2011 Apr 20.
45	In vivo differentiation and genomic evolution in adult male germ cell tumors.Genes Chromosomes Cancer. 2008 Jan;47(1):43-55. doi: 10.1002/gcc.20504.
46	DNA hypomethylation and aberrant expression of the human endogenous retrovirus ERVWE1/syncytin-1 in seminomas.Retrovirology. 2017 Mar 17;14(1):20. doi: 10.1186/s12977-017-0342-9.
47	Coamplification of DAD-R, SOX5, and EKI1 in human testicular seminomas, with specific overexpression of DAD-R, correlates with reduced levels of apoptosis and earlier clinical manifestation.Cancer Res. 2002 Mar 15;62(6):1822-31.
48	Novel retrotransposed imprinted locus identified at human 6p25.Nucleic Acids Res. 2011 Jul;39(13):5388-400. doi: 10.1093/nar/gkr108. Epub 2011 Mar 18.
49	Involvement of dysadherin and E-cadherin in the development of testicular tumours.Br J Cancer. 2005 Dec 12;93(12):1382-7. doi: 10.1038/sj.bjc.6602880.
50	Down-regulation of stem cell genes, including those in a 200-kb gene cluster at 12p13.31, is associated with in vivo differentiation of human male germ cell tumors.Cancer Res. 2006 Jan 15;66(2):820-7. doi: 10.1158/0008-5472.CAN-05-2445.
51	Genomic and expression analysis of the 12p11-p12 amplicon using EST arrays identifies two novel amplified and overexpressed genes.Cancer Res. 2002 Nov 1;62(21):6218-23.
52	The expression and function of androgen receptor coactivator p44 and protein arginine methyltransferase 5 in the developing testis and testicular tumors.J Urol. 2007 May;177(5):1918-22. doi: 10.1016/j.juro.2007.01.017.
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63	Down-regulation of oestrogen receptor- associates with transcriptional co-regulator PATZ1 delocalization in human testicular seminomas.J Pathol. 2011 May;224(1):110-20. doi: 10.1002/path.2846. Epub 2011 Mar 7.
64	Stem-cell protein Piwil2 is widely expressed in tumors and inhibits apoptosis through activation of Stat3/Bcl-XL pathway.Hum Mol Genet. 2006 Jan 15;15(2):201-11. doi: 10.1093/hmg/ddi430. Epub 2005 Dec 23.
65	Clinical and biological significance of an isozyme tumor marker--PLAP.Clin Biochem. 1987 Dec;20(6):387-92. doi: 10.1016/0009-9120(87)90003-8.
66	Increased expression of urokinase plasminogen activator and its cognate receptor in human seminomas.BMC Cancer. 2010 Apr 19;10:151. doi: 10.1186/1471-2407-10-151.
67	PRDM14 is expressed in germ cell tumors with constitutive overexpression altering human germline differentiation and proliferation.Stem Cell Res. 2018 Mar;27:46-56. doi: 10.1016/j.scr.2017.12.016. Epub 2018 Jan 4.
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69	Human and mouse RAD17 genes: identification, localization, genomic structure and histological expression pattern in normal testis and seminoma.Hum Genet. 1999 Jul-Aug;105(1-2):17-27. doi: 10.1007/s004399900067.
70	Expression of mammalian paralogues of HRAD9 and Mrad9 checkpoint control genes in normal and cancerous testicular tissue.Cancer Res. 2003 Sep 1;63(17):5291-8.
71	Deficiency in mammalian histone H2B ubiquitin ligase Bre1 (Rnf20/Rnf40) leads to replication stress and chromosomal instability.Cancer Res. 2012 Apr 15;72(8):2111-9. doi: 10.1158/0008-5472.CAN-11-2209. Epub 2012 Feb 21.
72	Eukaryotic initiation factor 3 p110 mRNA is overexpressed in testicular seminomas.Am J Pathol. 2000 Nov;157(5):1597-604. doi: 10.1016/S0002-9440(10)64797-9.
73	Establishment and characterization of a new human extragonadal germ cell line, SEM-1, and its comparison with TCam-2 and JKT-1.Urology. 2013 Feb;81(2):464.e1-9. doi: 10.1016/j.urology.2012.09.029.
74	Yolk sac tumor but not seminoma or teratoma is associated with abnormal epigenetic reprogramming pathway and shows frequent hypermethylation of various tumor suppressor genes.Cancer Sci. 2009 Apr;100(4):698-708. doi: 10.1111/j.1349-7006.2009.01102.x. Epub 2009 Feb 24.
75	Unique and redundant roles of SOX2 and SOX17 in regulating the germ cell tumor fate.Int J Cancer. 2020 Mar 15;146(6):1592-1605. doi: 10.1002/ijc.32714. Epub 2019 Nov 1.
76	Expression of SpanX proteins in normal testes and in testicular germ cell tumours.Int J Androl. 2006 Apr;29(2):368-73. doi: 10.1111/j.1365-2605.2005.00615.x. Epub 2005 Dec 22.
77	SPIN1 is a proto-oncogene and SPIN3 is a tumor suppressor in human seminoma.Oncotarget. 2018 Aug 21;9(65):32466-32477. doi: 10.18632/oncotarget.25977. eCollection 2018 Aug 21.
78	The role of BLIMP1 and its putative downstream target TFAP2C in germ cell development and germ cell tumours.Int J Androl. 2011 Aug;34(4 Pt 2):e152-8; discussion e158-9. doi: 10.1111/j.1365-2605.2011.01167.x. Epub 2011 May 12.
79	TPD52, a candidate gene from genomic studies, is overexpressed in testicular germ cell tumours.Mol Cell Endocrinol. 2009 Jul 10;306(1-2):75-80. doi: 10.1016/j.mce.2008.10.043. Epub 2008 Nov 11.
80	Identification and characterization of a novel human testis-specific kinase substrate gene which is downregulated in testicular tumors.Biochem Biophys Res Commun. 2001 Jul 13;285(2):400-8. doi: 10.1006/bbrc.2001.5165.