MCID: SXC001
MIFTS: 43

Sex Cord-Gonadal Stromal Tumor

Categories: Cancer diseases, Reproductive diseases, Rare 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 51 69
Malignant Testicular Sex Cord-Stromal Tumor 12 69
Sex Cord-Stromal Tumor of Testis 12 55
Sex Cord-Stromal Neoplasm 12 14
Sex Cord-Stromal Tumor, No Icd-O Subtype 12
Testicular Sex Cord-Stromal Tumor 55
Specialized Gonadal Neoplasm Nos 12
Sex Cord Stromal Tumor of Testis 69
Sex Cord-Gonadal Stromal Tumors 41
Specialized Gonadal Neoplasm 12
Specialized Gonadal Tumor 12
Sex Cord Stromal Tumour 12

Characteristics:

Orphanet epidemiological data:

55
sex cord-stromal tumor of testis
Prevalence: <1/1000000 (Europe),1-9/1000000 (Europe);

Classifications:

Orphanet: 55  
Rare urogenital diseases


External Ids:

Disease Ontology 12 DOID:192 DOID:4757
MeSH 41 D018312
Orphanet 55 ORPHA363489
ICD10 via Orphanet 33 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 granulosa cell tumor of the ovary and ovarian cancer 1. 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 is Ovarian Infertility Genes. The drugs Carboplatin and Paclitaxel have been mentioned in the context of this disorder. Affiliated tissues include the sex cord-derived tissues of the ovary, testis and ovary, 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 229)
# Related Disease Score Top Affiliating Genes
1 granulosa cell tumor of the ovary 30.7 ENO2 FOXL2 INHA KRT7 SYP
2 ovarian cancer 1 30.5 KRT7 PGR WT1
3 sertoli cell tumor 29.6 CALB2 INHA NR5A1 SYP WT1
4 small cell carcinoma 29.4 ENO2 KRT7 SYP
5 mixed germ cell-sex cord neoplasm 11.8
6 ovarian sex cord tumor with annular tubules 11.3
7 ovarian fibroma 11.2
8 46,xy partial gonadal dysgenesis 10.6 NR5A1 WT1
9 fallopian tube carcinosarcoma 10.6 CALB2 WT1
10 renal adenoma 10.6 KRT7 WT1
11 epithelial predominant wilms' tumor 10.6 KRT7 WT1
12 mucinous bronchioloalveolar adenocarcinoma 10.5 CALB2 KRT7
13 ovarian serous cystadenofibroma 10.5 CALB2 INHA
14 eccrine papillary adenocarcinoma 10.5 KRT7 PGR
15 malignant leydig cell tumor 10.5 CALB2 KRT7
16 epithelioid trophoblastic tumor 10.5 INHA KRT7
17 metanephric adenoma 10.5 KRT7 WT1
18 cribriform carcinoma 10.5 KRT7 PGR
19 oncocytic breast carcinoma 10.5 KRT7 PGR
20 malignant mixed mullerian tumor 10.5 KRT7 PGR
21 adenofibroma 10.5 CALB2 INHA
22 adenoid basal cell carcinoma 10.5 KRT7 PGR
23 apocrine adenocarcinoma 10.5 KRT7 PGR
24 spindle cell liposarcoma 10.5 CALB2 WT1
25 corneal abscess 10.5 KRT7 PGR
26 kidney sarcoma 10.5 DICER1 WT1
27 papillary serous adenocarcinoma 10.5 KRT7 PGR
28 urethral diverticulum 10.4 KRT7 WT1
29 clear cell adenofibroma 10.4 CALB2 KRT7
30 intrahepatic bile duct adenoma 10.4 AFP KRT7
31 testicular granulosa cell tumor 10.4 AFP WT1
32 juvenile type testicular granulosa cell tumor 10.4 AFP WT1
33 ovarian germ cell cancer 10.4 AFP KRT7
34 maligant granulosa cell tumor of the ovary 10.4 DICER1 FOXL2
35 pneumatosis cystoides intestinalis 10.4 CALB2 WT1
36 intratubular embryonal carcinoma 10.4 AFP KRT7
37 mixed hepatoblastoma 10.4 AFP PGR
38 renal pelvis carcinoma 10.4 AFP KRT7
39 choriocarcinoma of the testis 10.4 AFP KRT7
40 nephrotic syndrome, type 1 10.4 AFP WT1
41 benign mesothelioma 10.4 CALB2 KRT7 WT1
42 corpus luteum cyst 10.4 AFP FOXL2
43 ovarian brenner tumor 10.4 CALB2 KRT7 WT1
44 dermoid cyst 10.4 KRT7 PGR
45 mesothelioma, malignant 10.4 CALB2 KRT7 WT1
46 kidney benign neoplasm 10.4 DICER1 KRT7
47 blepharophimosis, ptosis, and epicanthus inversus 10.4 FOXL2 NR5A1
48 endosalpingiosis 10.4 KRT7 PGR WT1
49 female reproductive endometrioid cancer 10.3 KRT7 PGR WT1
50 pleural cancer 10.3 CALB2 WT1

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.92 NR5A1 AFP CALB2 PGR SYP CYP19A1
2 endocrine/exocrine gland MP:0005379 9.86 NR5A1 AFP PGR CYP19A1 WT1 DICER1
3 homeostasis/metabolism MP:0005376 9.85 KRT7 NR5A1 AFP ANO6 PGR CYP19A1
4 normal MP:0002873 9.61 NR5A1 PGR CALB2 CYP19A1 SYP WT1
5 reproductive system MP:0005389 9.23 NR5A1 AFP PGR CYP19A1 WT1 DICER1

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 45)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 3,Phase 2,Phase 1 41575-94-4 10339178 38904 498142
2
Paclitaxel Approved, Vet_approved Phase 3,Phase 2 33069-62-4 36314
3
Bleomycin Approved, Investigational Phase 3,Phase 2 11056-06-7 5360373
4
Cisplatin Approved Phase 3,Phase 2 15663-27-1 2767 441203 84093
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 3823 47576
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
37
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
38
Dactinomycin Approved, Investigational 50-76-0 457193 2019
39
Doxorubicin Approved, Investigational 23214-92-8 31703
40
Ifosfamide Approved 3778-73-2 3690
41
Vincristine Approved, Investigational 2068-78-2, 57-22-7 5978
42
Dobutamine Approved 34368-04-2 36811
43
Menthol Approved 2216-51-5 16666
44
Doxil Approved June 1999 31703
45 Isophosphamide mustard 0

Interventional clinical trials:

(show all 15)

# 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 International PPB Registry for PPB, DICER1 and Associated Conditions Recruiting NCT03382158
13 DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study Recruiting NCT01247597
14 Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome Recruiting NCT00565903
15 Living After a Rare Cancer of the Ovary: Chronic Fatigue, Quality of Life and Late Effects of Chemotherapy Not yet recruiting NCT03418844

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

The Foundational Model of Anatomy Ontology organs/tissues related to Sex Cord-Gonadal Stromal Tumor:

18
The Sex Cord-Derived Tissues Of The Ovary

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

38
Testis, Ovary, Endothelial

Publications for Sex Cord-Gonadal Stromal Tumor

Articles related to Sex Cord-Gonadal Stromal Tumor:

# 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
# 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:

# Super pathways Score Top Affiliating Genes
1 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)
# 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 apoptotic DNA fragmentation GO:0006309 9.43 DICER1 FOXL2
6 ovulation from ovarian follicle GO:0001542 9.37 AFP PGR
7 sex determination GO:0007530 9.32 NR5A1 WT1
8 positive regulation of male gonad development GO:2000020 9.26 NR5A1 WT1
9 positive regulation of follicle-stimulating hormone secretion GO:0046881 9.16 FOXL2 INHA
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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