MCID: SXC001
MIFTS: 40

Sex Cord-Gonadal Stromal Tumor

Categories: Cancer diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Sex Cord-Gonadal Stromal Tumor

MalaCards integrated aliases for Sex Cord-Gonadal Stromal Tumor:

Name: Sex Cord-Gonadal Stromal Tumor 12 14
Sex Cord-Stromal Tumor 12 52 69
Malignant Testicular Sex Cord-Stromal Tumor 12 69
Sex Cord-Stromal Tumor of Testis 12 56
Sex Cord-Stromal Neoplasm 12 14
Sex Cord-Stromal Tumor, No Icd-O Subtype 12
Testicular Sex Cord-Stromal Tumor 56
Specialized Gonadal Neoplasm Nos 12
Sex Cord Stromal Tumor of Testis 69
Sex Cord-Gonadal Stromal Tumors 42
Specialized Gonadal Neoplasm 12
Specialized Gonadal Tumor 12
Sex Cord Stromal Tumour 12

Characteristics:

Orphanet epidemiological data:

56
sex cord-stromal tumor of testis
Prevalence: <1/1000000 (Europe),1-9/1000000 (Europe);

Classifications:

Orphanet: 56  
Rare urogenital diseases


External Ids:

Disease Ontology 12 DOID:192 DOID:4757
MeSH 42 D018312
Orphanet 56 ORPHA363489
ICD10 via Orphanet 34 C62.1

Summaries for Sex Cord-Gonadal Stromal Tumor

Disease Ontology : 12 A reproductive organ cancer that is located in the sex cord-derived tissues of the ovary and testis.

MalaCards based summary : Sex Cord-Gonadal Stromal Tumor, also known as sex cord-stromal tumor, is related to ovarian sex cord tumor with annular tubules and mixed germ cell-sex cord neoplasm. An important gene associated with Sex Cord-Gonadal Stromal Tumor is NR5A1 (Nuclear Receptor Subfamily 5 Group A Member 1), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Ovarian Infertility Genes. The drugs Carboplatin and Paclitaxel have been mentioned in the context of this disorder. Affiliated tissues include testis, ovary and endothelial, and related phenotypes are behavior/neurological and endocrine/exocrine gland

Related Diseases for Sex Cord-Gonadal Stromal Tumor

Diseases related to Sex Cord-Gonadal Stromal Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 201)
id Related Disease Score Top Affiliating Genes
1 ovarian sex cord tumor with annular tubules 11.2
2 mixed germ cell-sex cord neoplasm 11.2
3 ovarian fibroma 11.1
4 granulosa cell tumor of the ovary 11.1
5 idiopathic recurrent pericarditis 10.9 NR5A1 WT1
6 exotropia 10.8 PGR WT1
7 breast myoepithelial neoplasm 10.8 PGR WT1
8 conjunctivochalasis 10.8 DICER1 WT1
9 kallmann syndrome 10.8 PGR WT1
10 gingival hypertrophy 10.7 AFP WT1
11 uveal melanoma 10.7 AFP WT1
12 subvalvular aortic stenosis 10.7 AFP PGR
13 cutaneous liposarcoma 10.7 CALB2 WT1
14 premature ovarian failure 3 10.7 FOXL2 NR5A1
15 dementia 10.7 AFP FOXL2
16 testicular trophoblastic tumor 10.7 AFP CALB2
17 congenital pulmonary alveolar proteinosis 10.7 AFP WT1
18 mesenteric vascular occlusion 10.7 CALB2 WT1
19 lymphangiosarcoma 10.6 CALB2 INHA
20 extrahepatic bile duct leiomyoma 10.6 AFP FOXL2
21 clear cell adenofibroma 10.6 CALB2 NCAM1
22 liposarcoma of bone 10.6 ENO2 WT1
23 prion disease 10.6 CALB2 NCAM1
24 mucinous adenofibroma 10.6 NCAM1 WT1
25 posterior urethra cancer 10.6 CALB2 ENO2
26 schnitzler syndrome 10.6 ENO2 WT1
27 stromal predominant kidney wilms' tumor 10.6 NCAM1 WT1
28 kidney lipoma 10.6 CALB2 PGR
29 46 xx gonadal dysgenesis 10.6 FOXL2 NR5A1 WT1
30 lung benign neoplasm 10.5 ENO2 WT1
31 pineal region yolk sac tumor 10.5 ENO2 PGR
32 liver angiosarcoma 10.5 DICER1 PGR WT1
33 childhood pleomorphic rhabdomyosarcoma 10.5 AFP CALB2 WT1
34 malignant peritoneal solitary fibrous tumor 10.5 AFP CALB2 WT1
35 nodular medulloblastoma 10.5 AFP ENO2
36 basophilic carcinoma 10.5 SYP WT1
37 hairy palms and soles 10.5 CALB2 DICER1 FOXL2
38 lung leiomyosarcoma 10.5 ENO2 WT1
39 malignant syringoma 10.5 AFP ANO6
40 mohr syndrome 10.5 AFP INHA
41 benign pericardial teratoma 10.4 AFP ENO2
42 diabetes mellitus, insulin-resistant, with acanthosis nigricans 10.4 AFP NR5A1 WT1
43 morbid obesity 10.4 ENO2 INHA
44 olfactory nerve neoplasm 10.4 PGR SYP
45 osteoclast-like giant cell neoplasm of the pancreas 10.4 PGR SYP
46 retinal detachment 10.4 PGR SYP
47 diphtheria 10.4 ENO2 PGR
48 thymus lipoma 10.4 CALB2 NCAM1 WT1
49 arteriosclerosis obliterans 10.4 ENO2 NCAM1
50 sebaceous adenoma 10.4 PGR SYP

Graphical network of the top 20 diseases related to Sex Cord-Gonadal Stromal Tumor:



Diseases related to Sex Cord-Gonadal Stromal Tumor

Symptoms & Phenotypes for Sex Cord-Gonadal Stromal Tumor

MGI Mouse Phenotypes related to Sex Cord-Gonadal Stromal Tumor:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 AFP CALB2 CYP19A1 DICER1 ENO2 NCAM1
2 endocrine/exocrine gland MP:0005379 9.86 NR5A1 PGR WT1 AFP CYP19A1 DICER1
3 normal MP:0002873 9.61 CALB2 CYP19A1 DICER1 FOXL2 INHA NR5A1
4 neoplasm MP:0002006 9.55 AFP DICER1 INHA PGR WT1
5 reproductive system MP:0005389 9.23 AFP CYP19A1 DICER1 FOXL2 INHA NR5A1

Drugs & Therapeutics for Sex Cord-Gonadal Stromal Tumor

Drugs for Sex Cord-Gonadal Stromal Tumor (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 36)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 3,Phase 2,Phase 1 41575-94-4 10339178 498142 38904
2
Paclitaxel Approved, Vet_approved Phase 3,Phase 2 33069-62-4 36314
3
Bleomycin Approved Phase 3,Phase 2 11056-06-7 5360373
4
Cisplatin Approved Phase 3,Phase 2 15663-27-1 84093 441203 2767
5
Etoposide Approved Phase 3,Phase 2 33419-42-0 36462
6 Albumin-Bound Paclitaxel Phase 3,Phase 2
7 Antimitotic Agents Phase 3,Phase 2
8 Antineoplastic Agents, Phytogenic Phase 3,Phase 2
9 Anti-Bacterial Agents Phase 3,Phase 2
10 Antibiotics, Antitubercular Phase 3,Phase 2
11 Etoposide phosphate Phase 3,Phase 2
12 Topoisomerase Inhibitors Phase 3,Phase 2
13
nivolumab Approved Phase 2 946414-94-4
14
Bevacizumab Approved, Investigational Phase 2 216974-75-3
15
Ketoconazole Approved, Investigational Phase 2 65277-42-1 47576 3823
16
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
17 Anti-Infective Agents Phase 2,Phase 1
18 Antibodies Phase 2
19 Antibodies, Monoclonal Phase 2
20 Immunoglobulins Phase 2
21 Angiogenesis Inhibitors Phase 2
22 Angiogenesis Modulating Agents Phase 2
23 Endothelial Growth Factors Phase 2
24 Mitogens Phase 2
25 Antifungal Agents Phase 2
26 Cytochrome P-450 CYP3A Inhibitors Phase 2
27 Cytochrome P-450 Enzyme Inhibitors Phase 2
28 Hormone Antagonists Phase 2
29 Hormones Phase 2
30 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
31 Steroid Synthesis Inhibitors Phase 2
32
Gemcitabine Approved Phase 1 95058-81-4 60750
33 Antimetabolites Phase 1
34 Antimetabolites, Antineoplastic Phase 1
35 Antiviral Agents Phase 1
36 Immunosuppressive Agents Phase 1

Interventional clinical trials:

(show all 13)

id Name Status NCT ID Phase Drugs
1 TC or BEP in Treating Patients With Ovarian Malignant Sex Cord-Stromal Tumors Enrolling by invitation NCT02429700 Phase 3 Paclitaxel;Carboplatin;Bleomycin;Etoposide;Cisplatin
2 Paclitaxel in Treating Patients With Ovarian Stromal Cancer Completed NCT00006227 Phase 2 Paclitaxel
3 Paclitaxel and Carboplatin or Bleomycin Sulfate, Etoposide Phosphate, and Cisplatin in Treating Patients With Advanced or Recurrent Sex Cord-Ovarian Stromal Tumors Recruiting NCT01042522 Phase 2 Carboplatin;Cisplatin;Etoposide Phosphate;Paclitaxel
4 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
5 Efficacy and Safety of Bevacizumab (Avastin®) Combined to Weekly Paclitaxel Followed by Bevacizumab (Avastin®) Alone in Patients With Relapsed Ovarian Sex-cord Stromal Tumours (ALIENOR) Active, not recruiting NCT01770301 Phase 2 Paclitaxel;Bevacizumab
6 Bevacizumab in Treating Patients With Recurrent Sex Cord-Stromal Tumors of the Ovary Active, not recruiting NCT00748657 Phase 2
7 Ketoconazole as Inhibitor of the Enzyme CYP17 in Locally Advanced or Disseminated Granulosa Cell Tumour of Ovary Terminated NCT01584297 Phase 2 Ketoconazole
8 Carboplatin, Gemcitabine Hydrochloride, and Stereotactic Body Radiation Therapy in Gynecological Cancer Completed NCT01652794 Phase 1 carboplatin;gemcitabine hydrochloride
9 Studying Genes in Samples From Younger Patients With Ovarian or Testicular Sex Cord Stromal Tumors Completed NCT01572467
10 Stress Reduction in Improving Quality of Life in Patients With Recurrent Gynecologic or Breast Cancer Completed NCT01764789
11 International Ovarian & Testicular Stromal Tumor Registry Recruiting NCT01970696
12 DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study Recruiting NCT01247597
13 Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome Recruiting NCT00565903

Search NIH Clinical Center for Sex Cord-Gonadal Stromal Tumor

Cochrane evidence based reviews: sex cord-gonadal stromal tumors

Genetic Tests for Sex Cord-Gonadal Stromal Tumor

Anatomical Context for Sex Cord-Gonadal Stromal Tumor

MalaCards organs/tissues related to Sex Cord-Gonadal Stromal Tumor:

39
Testis, Ovary, Endothelial

Publications for Sex Cord-Gonadal Stromal Tumor

Articles related to Sex Cord-Gonadal Stromal Tumor:

id Title Authors Year
1
Sex cord-gonadal stromal tumor of the rete testis. ( 19125206 )
2009
2
Incompletely differentiated (unclassified) sex cord/gonadal stromal tumor of the testis with a "pure" spindle cell component: report of a case with diagnostic and histogenetic considerations. ( 17850986 )
2007
3
An enormous testicular sex cord/gonadal stromal tumor. ( 8811574 )
1996
4
Response of metastasized sex cord gonadal stromal tumor of the testis to cisplatin-based chemotherapy. ( 7510344 )
1994
5
Sertoli-Leydig cell testicular tumor: case report and review of sex cord/gonadal stromal tumor histogenesis. ( 1512847 )
1992

Variations for Sex Cord-Gonadal Stromal Tumor

ClinVar genetic disease variations for Sex Cord-Gonadal Stromal Tumor:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GNAS NM_000516.5(GNAS): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic/Likely pathogenic rs11554273 GRCh37 Chromosome 20, 57484420: 57484420
2 GNAS NM_000516.5(GNAS): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh37 Chromosome 20, 57484421: 57484421

Expression for Sex Cord-Gonadal Stromal Tumor

Search GEO for disease gene expression data for Sex Cord-Gonadal Stromal Tumor.

Pathways for Sex Cord-Gonadal Stromal Tumor

Pathways related to Sex Cord-Gonadal Stromal Tumor according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.26 AFP NCAM1 WT1
2 10.43 CYP19A1 INHA NR5A1 PGR

GO Terms for Sex Cord-Gonadal Stromal Tumor

Biological processes related to Sex Cord-Gonadal Stromal Tumor according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 male gonad development GO:0008584 9.58 INHA NR5A1 WT1
2 adrenal gland development GO:0030325 9.49 NR5A1 WT1
3 tissue development GO:0009888 9.48 NR5A1 WT1
4 uterus development GO:0060065 9.46 CYP19A1 FOXL2
5 ovulation from ovarian follicle GO:0001542 9.37 AFP PGR
6 sex determination GO:0007530 9.32 NR5A1 WT1
7 positive regulation of male gonad development GO:2000020 9.26 NR5A1 WT1
8 positive regulation of follicle-stimulating hormone secretion GO:0046881 9.16 FOXL2 INHA
9 apoptotic DNA fragmentation GO:0006309 9.13 FOXL2
10 negative regulation of female gonad development GO:2000195 8.96 NR5A1 WT1
11 female gonad development GO:0008585 8.8 CYP19A1 FOXL2 NR5A1

Sources for Sex Cord-Gonadal Stromal Tumor

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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