MCID: SPR018
MIFTS: 34

Spermatocytoma

Categories: Cancer diseases, Endocrine diseases, Reproductive diseases

Aliases & Classifications for Spermatocytoma

MalaCards integrated aliases for Spermatocytoma:

Name: Spermatocytoma 12 15
Spermatocytic Seminoma 12 6 70

Classifications:



External Ids:

Disease Ontology 12 DOID:5834
NCIt 50 C39921
SNOMED-CT 67 9294008
UMLS 70 C0334517

Summaries for Spermatocytoma

MalaCards based summary : Spermatocytoma, also known as spermatocytic seminoma, is related to testicular germ cell tumor and testicular cancer. An important gene associated with Spermatocytoma is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are Central carbon metabolism in cancer and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include testis, testes and thyroid, and related phenotype is reproductive system.

Wikipedia : 73 A seminoma is a germ cell tumor of the testicle or, more rarely, the mediastinum or other extra-gonadal... more...

Related Diseases for Spermatocytoma

Diseases related to Spermatocytoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 102)
# Related Disease Score Top Affiliating Genes
1 testicular germ cell tumor 32.6 MIR371A LRRC56 KIT HRAS FGFR3 DMRT1
2 testicular cancer 32.1 SSX2 MAGEA4 FGFR3 DMRT1 AFP
3 rhabdomyosarcoma 30.7 SSX2 LRRC56 KIT HRAS FGFR3
4 teratoma 30.7 KIT FGFR3 DMRT1 AFP
5 sarcoma 30.5 SSX2 SAGE1 KIT HRAS FGFR3
6 endodermal sinus tumor 30.5 SALL4 MIR371A AFP
7 testicular spermatocytic seminoma 30.4 MAGEA4 HRAS FGFR3
8 dysgerminoma 30.2 SALL4 MIR371A KIT AFP
9 cryptorchidism, unilateral or bilateral 30.1 UTF1 SALL4 NANOS2 KIT DMRT1 AFP
10 seminoma 29.7 SSX2 NANOG MAGEA4 KIT FGFR3 DMRT1
11 germ cells tumors 10.6
12 spitz nevus 10.4 LRRC56 HRAS
13 malignant dermis tumor 10.4 KIT HRAS
14 malignant skin fibrous histiocytoma 10.4 KIT HRAS
15 mixed germ cell-sex cord neoplasm 10.4 SALL4 DMRT1
16 vulvar melanoma 10.4 KIT HRAS
17 immature teratoma of ovary 10.4 HRAS AFP
18 mediastinum seminoma 10.4 KIT AFP
19 mixed germ cell tumor 10.4 KIT AFP
20 choriocarcinoma of the testis 10.4 SALL4 AFP
21 liver fibroma 10.4 SSX2 KIT
22 pineal region teratoma 10.4 KIT AFP
23 gallbladder leiomyosarcoma 10.4 KIT AFP
24 schimmelpenning-feuerstein-mims syndrome 10.4 LRRC56 HRAS FGFR3
25 ovarian primitive germ cell tumor 10.4 SALL4 AFP
26 ovarian endodermal sinus tumor 10.4 SALL4 AFP
27 nevus, epidermal 10.4 LRRC56 HRAS FGFR3
28 lip and oral cavity cancer 10.4 LRRC56 KIT HRAS
29 liver leiomyoma 10.4 KIT AFP
30 intratubular embryonal carcinoma 10.4 KIT AFP
31 esophageal adenoid cystic carcinoma 10.4 KIT AFP
32 heart sarcoma 10.4 SSX2 KIT
33 ovarian mixed germ cell neoplasm 10.4 KIT AFP
34 gonadoblastoma 10.4 KIT DMRT3 DMRT1
35 retroperitoneal sarcoma 10.4 SSX2 KIT
36 testicular seminoma 10.3
37 testicular malignant germ cell cancer 10.3 SALL4 AFP
38 biliary tract benign neoplasm 10.3 HRAS AFP
39 childhood endodermal sinus tumor 10.3 MIR371A AFP
40 sarcomatous intrahepatic cholangiocarcinoma 10.3 KIT AFP
41 pancreatic acinar cell adenocarcinoma 10.3 HRAS AFP
42 giant cell glioblastoma 10.3 LRRC56 HRAS FGFR3
43 uterine carcinosarcoma 10.3 LRRC56 KIT HRAS
44 mixed cell type cancer 10.3 KIT HRAS AFP
45 skeletal muscle cancer 10.3 SSX2 KIT HRAS
46 core binding factor acute myeloid leukemia 10.3 KIT HRAS
47 muscle cancer 10.3 SSX2 KIT HRAS
48 endometrial small cell carcinoma 10.3 KIT AFP
49 malignant anus melanoma 10.3 MAGEC1 KIT HRAS
50 chromosome 9p deletion syndrome 10.3 DMRT3 DMRT1

Graphical network of the top 20 diseases related to Spermatocytoma:



Diseases related to Spermatocytoma

Symptoms & Phenotypes for Spermatocytoma

MGI Mouse Phenotypes related to Spermatocytoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 9.36 AFP DMRT1 DMRT2 DMRT3 FGFR3 KIT

Drugs & Therapeutics for Spermatocytoma

Search Clinical Trials , NIH Clinical Center for Spermatocytoma

Genetic Tests for Spermatocytoma

Anatomical Context for Spermatocytoma

MalaCards organs/tissues related to Spermatocytoma:

40
Testis, Testes, Thyroid, Ovary, Prostate

Publications for Spermatocytoma

Articles related to Spermatocytoma:

(show top 50) (show all 230)
# Title Authors PMID Year
1
Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors. 6
19855393 2009
2
Thanatophoric dysplasia type 2 with encephalocele during the second trimester. 6
16752380 2006
3
RAS point mutations and PAX8-PPAR gamma rearrangement in thyroid tumors: evidence for distinct molecular pathways in thyroid follicular carcinoma. 6
12727991 2003
4
The thanatophoric dysplasia type II mutation hampers complete maturation of fibroblast growth factor receptor 3 (FGFR3), which activates signal transducer and activator of transcription 1 (STAT1) from the endoplasmic reticulum. 6
12624096 2003
5
Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia. 6
9677066 1998
6
Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3. 6
9207791 1997
7
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. 6
7773297 1995
8
Contemporary Trends in Presentation and Management of Spermatocytic Seminoma. 61
33049234 2020
9
Recently Described and Clinically Important Entities in Testis Tumors: A Selective Review of Changes Incorporated Into the 2016 Classification of the World Health Organization. 61
29949388 2019
10
Prognostic and predictive factors in testicular cancer. 61
31115016 2019
11
[Testicular germ cell tumors: Histopathological and molecular features]. 61
30905378 2019
12
Erratum: Spermatocytic seminoma with rhabdomyoblastic differentiation: Case report and review of literature. 61
30971586 2019
13
Adjuvant radiotherapy for Stage I seminoma: A Single-institutional experience. 61
30900627 2019
14
Spermatocytic Seminoma: A Report of 85 Cases Emphasizing Its Morphologic Spectrum Including Some Aspects Not Widely Known. 61
29280854 2019
15
A case of spermatocytic seminoma in young individual. 61
30093773 2018
16
Spermatocytic seminoma with rhabdomyoblastic differentiation: Case report and review of literature. 61
30004076 2018
17
Giant paratesticular liposarcoma: A case report and review of the literature. 61
29556392 2018
18
Spermatocytic Tumor With Sarcoma: A Rare Testicular Neoplasm. 61
28440090 2017
19
Testicular Seminoma and Its Mimics: From the Radiologic Pathology Archives. 61
28574809 2017
20
[Germ cell and sex cord-stromal tumors of the testis : WHO classification 2016]. 61
28474163 2017
21
The World Health Organization 2016 classification of testicular germ cell tumours: a review and update from the International Society of Urological Pathology Testis Consultation Panel. 61
27747907 2017
22
Spermatocytic Seminoma with Brain Metastasis. 61
27815811 2017
23
The 2016 WHO Classification of Tumours of the Urinary System and Male Genital Organs-Part A: Renal, Penile, and Testicular Tumours. 61
26935559 2016
24
Gigantic spermatocytic seminoma: A rare tumor of germ cell origin. 61
29314802 2016
25
[Treatments of stage-Is testicular mixed germ cell tumors: A report of 3 cases]. 61
27416669 2016
26
Expression of Transcription Factors and Nuclear Receptors in Mixed Germ Cell-Sex Cord Stromal Tumor and Related Tumors of the Gonads. 61
26107563 2015
27
Conventional Cisplatin-Based Combination Chemotherapy Is Effective in the Treatment of Metastatic Spermatocytic Seminoma with Extensive Rhabdomyosarcomatous Transformation. 61
25381827 2015
28
Intratubular germ cell neoplasia of the testis: a brief review. 61
25844678 2015
29
Update on the pathology of testicular tumors. 61
26072638 2015
30
Immunohistochemical study of mixed germ cell sex cord stromal tumours in 13 canine testes. 61
25670671 2015
31
Biglycan is a novel binding partner of fibroblast growth factor receptor 3c (FGFR3c) in the human testis. 61
25260943 2015
32
Distribution of testicular tumors in Lebanon: a single institution overview. 61
25921159 2015
33
The utility of immunostaining for NUT, GAGE7 and NY-ESO-1 in the diagnosis of spermatocytic seminoma. 61
24393139 2014
34
Spermatocytic variant of classic seminoma: a report of five cases and a brief review of the literature. 61
25120921 2014
35
Expression of protein gene product 9.5 and Sal-like protein 4 in canine seminomas. 61
24680979 2014
36
Cancer testis antigen expression in testicular germ cell tumorigenesis. 61
24232866 2014
37
Therapy-resistant metastasizing anaplastic spermatocytic seminoma: a cytogenetic hybrid: a case report. 61
25141494 2014
38
[Spermatocytic seminoma. A tumor with many faces]. 61
24682373 2014
39
[Genetics of testicular germ cell tumors]. 61
24819977 2014
40
Recent advances in understanding the etiology and pathogenesis of pediatric germ cell tumors. 61
24577549 2014
41
Cellular evidence for selfish spermatogonial selection in aged human testes. 61
24357637 2014
42
Histologic variants of seminoma mimicking lymphatic malignancies of the testis: a literature review with a report of case series focusing on problems in differential diagnosis. 61
23958546 2014
43
Periodic acid Schiff staining-positive spermatocytic seminoma. 61
24750191 2014
44
First case of bilateral, synchronous anaplastic variant of spermatocytic seminoma treated with radical orchifunicolectomy as single approach: case report and review of the literature. 61
24704931 2014
45
The management of retroperitoneal lymphadenopathy in spermatocytic seminoma of the testicle. 61
24361173 2014
46
Reaction to Yadav S et al: Invalid presentation of bilateral synchronous spermatocytic seminoma. 61
25667696 2014
47
Bilateral synchronous spermatocytic seminoma: a rare case report. 61
25309674 2014
48
Reaction to Koppad SN et al. Bilateral spermatocytic seminoma: an update on "synchronous" and "sequential" presentation of this rare variant of testicular tumour. 61
25309648 2014
49
Bilateral spermatocytic seminoma: a case report. 61
25032177 2014
50
Spermatocytic seminoma with sarcoma: an indication for adjuvant chemotherapy in localized disease. 61
24363873 2013

Variations for Spermatocytoma

ClinVar genetic disease variations for Spermatocytoma:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGFR3 NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) SNV Pathogenic 16331 rs78311289 GRCh37: 4:1807889-1807889
GRCh38: 4:1806162-1806162
2 HRAS , LRRC56 NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) SNV Pathogenic 12601 rs28933406 GRCh37: 11:533875-533875
GRCh38: 11:533875-533875

Expression for Spermatocytoma

Search GEO for disease gene expression data for Spermatocytoma.

Pathways for Spermatocytoma

Pathways related to Spermatocytoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.18 KIT HRAS FGFR3
2 11.05 ZFP42 UTF1 NANOG AFP
3 10.86 ZFP42 NANOG KIT
4 10.49 UTF1 NANOG

GO Terms for Spermatocytoma

Biological processes related to Spermatocytoma according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.98 UTF1 TFAP2C SALL4 NANOG HRAS DMRT2
2 regulation of transcription by RNA polymerase II GO:0006357 9.81 ZFP42 UTF1 TFAP2C SALL4 NANOG KIT
3 positive regulation of MAPK cascade GO:0043410 9.67 KIT HRAS FGFR3
4 somatic stem cell population maintenance GO:0035019 9.63 SALL4 NANOG KIT
5 snRNA 3'-end processing GO:0034472 9.51 SAGE1 CT45A1
6 stem cell population maintenance GO:0019827 9.5 SALL4 NANOG KIT
7 positive regulation of phospholipase C activity GO:0010863 9.48 KIT HRAS
8 negative regulation of meiotic nuclear division GO:0045835 9.4 NANOS2 DMRT1
9 germ cell migration GO:0008354 9.37 KIT DMRT1
10 male sex differentiation GO:0046661 9.26 DMRT3 DMRT1
11 sex differentiation GO:0007548 9.13 DMRT3 DMRT2 DMRT1
12 male gonad development GO:0008584 9.02 ZFP42 UTF1 TFAP2C KIT DMRT1

Molecular functions related to Spermatocytoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.7 ZFP42 TFAP2C SALL4 NANOG DMRT3 DMRT2
2 sequence-specific double-stranded DNA binding GO:1990837 9.65 ZFP42 TFAP2C NANOG DMRT3 DMRT1
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.5 ZFP42 TFAP2C SALL4 NANOG DMRT3 DMRT2
4 DNA-binding transcription factor activity GO:0003700 9.1 ZFP42 TFAP2C NANOG DMRT3 DMRT2 DMRT1

Sources for Spermatocytoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....