MCID: SXC001
MIFTS: 46

Sex Cord-Gonadal Stromal Tumor

Categories: Cancer diseases, Endocrine 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 15
Sex Cord-Stromal Tumor 12 55 6 73
Malignant Testicular Sex Cord-Stromal Tumor 12 73
Sex Cord-Stromal Tumor of Testis 12 59
Sex Cord-Stromal Neoplasm 12 15
Sex Cord-Stromal Tumor, No Icd-O Subtype 12
Testicular Sex Cord-Stromal Tumor 59
Sex Cord Stromal Tumor of Testis 73
Sex Cord-Gonadal Stromal Tumors 44
Specialized Gonadal Neoplasm 12
Specialized Gonadal Tumor 12
Sex Cord Stromal Tumour 12

Characteristics:

Orphanet epidemiological data:

59
sex cord-stromal tumor of testis
Prevalence: <1/1000000 (Europe),1-9/1000000 (Europe);

Classifications:

Orphanet: 59  
Rare urogenital diseases


External Ids:

Disease Ontology 12 DOID:192 DOID:4757
MeSH 44 D018312
SNOMED-CT 68 71440001
Orphanet 59 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 mixed germ cell-sex cord neoplasm and malignant leydig cell tumor. An important gene associated with Sex Cord-Gonadal Stromal Tumor is GNAS (GNAS Complex Locus), and among its related pathways/superpathways is Ovarian Infertility Genes. The drugs Paclitaxel and Carboplatin have been mentioned in the context of this disorder. Affiliated tissues include testis, ovary and lung, and related phenotypes are behavior/neurological and homeostasis/metabolism

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 195)
# Related Disease Score Top Affiliating Genes
1 mixed germ cell-sex cord neoplasm 33.2 CALB2 WT1
2 malignant leydig cell tumor 32.2 CALB2 KRT7 POMC
3 malignant sertoli cell tumor 32.2 AFP SYP
4 gynandroblastoma 32.1 CALB2 DICER1 FOXL2
5 granulosa cell tumor of the ovary 31.7 FOXL2 INHA KRT7 SYP
6 dysgerminoma 30.0 AFP KRT7 WT1
7 leydig cell tumor 30.0 AFP CYP19A1 NR5A1
8 sertoli cell tumor 29.9 CALB2 INHA PGR SYP WT1
9 ovarian sex cord tumor with annular tubules 11.8
10 malignant sertoli-leydig cell tumor 11.5
11 ovarian fibroma 11.4
12 denys-drash syndrome 10.3 NR5A1 WT1
13 appendix cancer 10.3 GNAS KRT7
14 pregnancy adenoma 10.3 GNAS KRT7
15 prostatic acinar adenocarcinoma 10.3 KRT7 WT1
16 pneumatosis cystoides intestinalis 10.3 CALB2 WT1
17 pleural cancer 10.3 CALB2 WT1
18 pericardium cancer 10.3 CALB2 KRT7
19 spindle cell synovial sarcoma 10.3 CALB2 KRT7
20 46,xy partial gonadal dysgenesis 10.3 NR5A1 WT1
21 fallopian tube carcinosarcoma 10.3 CALB2 WT1
22 benign mesothelioma 10.3 KRT7 WT1
23 adenofibroma 10.2 CALB2 INHA
24 renal adenoma 10.2 KRT7 WT1
25 appendix disease 10.2 GNAS KRT7
26 epithelial predominant wilms' tumor 10.2 KRT7 WT1
27 sweat gland disease 10.2 KRT7 PGR
28 dermoid cyst 10.2 KRT7 PGR
29 breast secretory carcinoma 10.2 KRT7 PGR
30 ovarian serous cystadenofibroma 10.2 CALB2 INHA
31 kidney sarcoma 10.2 DICER1 WT1
32 peutz-jeghers syndrome 10.2
33 epithelioid trophoblastic tumor 10.2 INHA KRT7
34 eccrine papillary adenocarcinoma 10.2 KRT7 PGR
35 metanephric adenoma 10.2 KRT7 WT1
36 oncocytic breast carcinoma 10.2 KRT7 PGR
37 ovarian primitive germ cell tumor 10.2 AFP KRT7
38 cribriform carcinoma 10.2 KRT7 PGR
39 adenoid basal cell carcinoma 10.2 KRT7 PGR
40 rete testis neoplasm 10.2 AFP CALB2
41 testotoxicosis 10.2 CYP19A1 GNAS
42 urachal adenocarcinoma 10.2 AFP GNAS
43 corneal abscess 10.2 KRT7 PGR
44 papillary serous adenocarcinoma 10.2 KRT7 PGR
45 dowling-degos disease 1 10.2 GNAS POMC
46 maligant granulosa cell tumor of the ovary 10.2 DICER1 FOXL2
47 intrahepatic bile duct adenoma 10.2 AFP KRT7
48 spindle cell liposarcoma 10.2 CALB2 WT1
49 clear cell adenofibroma 10.2 CALB2 KRT7
50 renal pelvis adenocarcinoma 10.2 AFP KRT7

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:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.15 AFP CALB2 CYP19A1 DICER1 GNAS NR5A1
2 homeostasis/metabolism MP:0005376 10.14 AFP CYP19A1 DICER1 FOXL2 GNAS INHA
3 endocrine/exocrine gland MP:0005379 10.13 AFP CYP19A1 DICER1 FOXL2 GNAS INHA
4 cardiovascular system MP:0005385 10.08 CYP19A1 DICER1 GNAS INHA NR5A1 PGR
5 cellular MP:0005384 10.06 CYP19A1 DICER1 GNAS KRT7 NR5A1 PGR
6 liver/biliary system MP:0005370 9.91 AFP CYP19A1 DICER1 GNAS INHA POMC
7 neoplasm MP:0002006 9.87 AFP DICER1 GNAS INHA PGR POMC
8 normal MP:0002873 9.85 CALB2 CYP19A1 DICER1 FOXL2 GNAS INHA
9 no phenotypic analysis MP:0003012 9.73 DICER1 FOXL2 GNAS PGR POMC WT1
10 renal/urinary system MP:0005367 9.43 CYP19A1 DICER1 GNAS KRT7 POMC WT1
11 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 45)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Paclitaxel Approved, Vet_approved Phase 3,Phase 2 33069-62-4 36314
2
Carboplatin Approved Phase 3,Phase 2,Phase 1 41575-94-4 10339178 38904 498142
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 Antineoplastic Agents, Phytogenic Phase 3,Phase 2
7 Albumin-Bound Paclitaxel Phase 3,Phase 2
8 Antimitotic Agents Phase 3,Phase 2
9 Anti-Bacterial Agents Phase 3,Phase 2
10 Topoisomerase Inhibitors Phase 3,Phase 2
11 Antibiotics, Antitubercular Phase 3,Phase 2
12 Etoposide phosphate Phase 3,Phase 2
13
Bevacizumab Approved, Investigational Phase 2 216974-75-3
14
Nivolumab Approved Phase 2 946414-94-4
15
Ketoconazole Approved, Investigational Phase 2 65277-42-1 3823 47576
16
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
17 Immunologic Factors Phase 2,Phase 1
18 Mitogens Phase 2
19 Immunoglobulin G Phase 2
20 Immunoglobulins Phase 2
21 Angiogenesis Modulating Agents Phase 2
22 Antibodies, Monoclonal Phase 2
23 Endothelial Growth Factors Phase 2
24 Angiogenesis Inhibitors Phase 2
25 Antibodies Phase 2
26 Anti-Infective Agents Phase 2,Phase 1
27 Cytochrome P-450 Enzyme Inhibitors Phase 2
28 Steroid Synthesis Inhibitors Phase 2
29 Antifungal Agents Phase 2
30 Cytochrome P-450 CYP3A Inhibitors Phase 2
31 Hormone Antagonists Phase 2
32 Hormones Phase 2
33 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
34
Gemcitabine Approved Phase 1 95058-81-4 60750
35 Immunosuppressive Agents Phase 1
36 Antiviral Agents Phase 1
37 Antimetabolites, Antineoplastic Phase 1
38 Antimetabolites Phase 1
39
Dactinomycin Approved, Investigational 50-76-0 457193 2019
40
Cyclophosphamide Approved, Investigational 6055-19-2, 50-18-0 2907
41
Vincristine Approved, Investigational 57-22-7, 2068-78-2 5978
42
Ifosfamide Approved 3778-73-2 3690
43
Doxorubicin Approved, Investigational 23214-92-8 31703
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 Recruiting NCT02429700 Phase 3 Paclitaxel;Carboplatin;Bleomycin;Etoposide;Cisplatin
2 Bevacizumab in Treating Patients With Recurrent Sex Cord-Stromal Tumors of the Ovary Completed NCT00748657 Phase 2
3 Paclitaxel in Treating Patients With Ovarian Stromal Cancer Completed NCT00006227 Phase 2 Paclitaxel
4 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
5 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
6 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
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 Not Applicable
11 International Ovarian & Testicular Stromal Tumor Registry Recruiting NCT01970696
12 Living After a Rare Cancer of the Ovary: Chronic Fatigue, Quality of Life and Late Effects of Chemotherapy Recruiting NCT03418844 Not Applicable
13 DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study Recruiting NCT01247597
14 International PPB Registry for PPB, DICER1 and Associated Conditions Recruiting NCT03382158
15 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:

41
Testis, Ovary, Lung, Kidney, Colon, Prostate, Thymus

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

19
The Sex Cord-Derived Tissues Of The Ovary

Publications for Sex Cord-Gonadal Stromal Tumor

Articles related to Sex Cord-Gonadal Stromal Tumor:

(show top 50) (show all 58)
# Title Authors Year
1
Prognostic significance of lymphadenectomyin malignant ovarian sex cord stromal tumor: A retrospective cohort study and meta-analysis. ( 29107349 )
2018
2
Co-occurrence of a metastatic mammary liposarcoma and an ovarian sex-cord stromal tumor in a dog. ( 27892865 )
2016
3
A Sex Cord-stromal Tumor, Specifically a Fibroma, Arising From the Uterine Corpus: A Case Report. ( 26166719 )
2016
4
Mixed germ cell-sex cord stromal tumor of the testis with an intratubular component: a problem in differential diagnosis. ( 27067782 )
2016
5
Clinicopathological significance of steroidogenic factor-1 expression in ovarian cancer versus ovarian sex cord stromal tumor. ( 25604140 )
2015
6
Mixed germ cell-sex cord-stromal tumor with a concurrent interstitial cell tumor in a ferret. ( 25311985 )
2015
7
Expression of Transcription Factors and Nuclear Receptors in Mixed Germ Cell-Sex Cord Stromal Tumor and Related Tumors of the Gonads. ( 26107563 )
2015
8
Recurrence of Non-Syndromic Sex Cord Stromal Tumor with Annular Tubules of Ovary: Case Report. ( 26516327 )
2015
9
Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome. ( 24755370 )
2014
10
Metastatic ovarian sex-cord stromal tumor with annular tubules in a patient without Peutz-Jeghers syndrome. ( 24932834 )
2014
11
Feto-maternal outcomes of pregnancy complicated by ovarian sex-cord stromal tumor: a systematic review of literature. ( 24439718 )
2014
12
Unclassified mixed germ cell-sex cord-stromal tumor with multiple malignant cellular elements in a young woman: a case report and review of the literature. ( 25197407 )
2014
13
Minimal deviation adenocarcinoma of the cervix and tumorlets of sex-cord stromal tumor with annular tubules of the ovary in Peutz-Jeghers syndrome. ( 23346318 )
2013
14
Alfa-fetoprotein secreting ovarian sex cord-stromal tumor. ( 23924561 )
2013
15
Non Peutz-Jegher syndrome associated malignant sex cord stromal tumor with annular tubules. ( 24083149 )
2013
16
Estrogen-producing endometrioid adenocarcinoma resembling sex cord-stromal tumor of the ovary: a review of four postmenopausal cases. ( 23190574 )
2012
17
Sclerosing Sertoli cell tumor without expression of typical sex cord stromal tumor markers: case report and literature review. ( 22226390 )
2012
18
Precocious puberty secondary to a mixed germ cell-sex cord-stromal tumor associated with an ovarian yolk sac tumor: a case report. ( 22734844 )
2012
19
Hepatoid carcinoma of the ovary with sex cord stromal tumor: a previously unrecognized association. ( 19856182 )
2010
20
A case report of an uncommon sex-cord stromal tumor consisted of luteal and sertoli cells in a spayed bitch. ( 19940389 )
2010
21
Sex cord-gonadal stromal tumor of the rete testis. ( 19125206 )
2009
22
Supraclavicular metastases from a sex cord stromal tumor of the ovary. ( 19579877 )
2009
23
Biphasic malignant testicular sex cord-stromal tumor in a cotton-top tamarin (Saguinus oedipus) with review of the literature. ( 18984797 )
2008
24
SF-1 is a diagnostically useful immunohistochemical marker and comparable to other sex cord-stromal tumor markers for the differential diagnosis of ovarian sertoli cell tumor. ( 18753972 )
2008
25
Fine needle aspiration of metastatic undifferentiated malignant sex cord stromal tumor. ( 18540310 )
2008
26
Bilateral testicular germ cell-sex cord-stromal tumor in a pekin duck (Anas platyrhynchos domesticus). ( 19216259 )
2008
27
Histologic and immunohistochemical characterization of a testicular mixed germ cell sex cord-stromal tumor and a leydig cell tumor in a dog. ( 18039910 )
2007
28
Incompletely differentiated (unclassified) sex cord/gonadal stromal tumor of the testis with a &amp;quot;pure&amp;quot; spindle cell component: report of a case with diagnostic and histogenetic considerations. ( 17850986 )
2007
29
Undifferentiated sex cord-stromal tumor in a young adult. ( 16835728 )
2007
30
Pediatric sex cord-stromal tumor with composite morphology: a case report. ( 16222477 )
2005
31
Ovarian sex cord-stromal tumor, unclassified: case report of endocrinologic findings and review of the literature. ( 16343200 )
2005
32
Cytogenetics of a pediatric unclassified sex cord-stromal tumor of the testis: a case report. ( 15588862 )
2005
33
CT and MRI findings of sex cord-stromal tumor of the ovary. ( 15972425 )
2005
34
Conservative management of a uterine tumor resembling an ovarian sex cord-stromal tumor. ( 14751183 )
2004
35
Juvenile granulosa-theca cell (sex cord-stromal) tumor of the infant testis. ( 12629401 )
2003
36
Gonadal sex cord stromal tumor in a patient with Rubinstein-Taybi syndrome. ( 11982910 )
2002
37
Sonographic presentation of uterine sex cord-stromal tumor. ( 10323191 )
1999
38
Loss of the Y-chromosome in the primary metastasis of a male sex cord stromal tumor: pathogenetic implications. ( 10432930 )
1999
39
Recurrent mixed germ cell-sex cord-stromal tumor of the ovary in an adult. ( 9656127 )
1998
40
Monosomy 22 in a mixed germ cell-sex cord-stromal tumor of the ovary. ( 9219001 )
1997
41
Estrogen secretion from a malignant sex cord stromal tumor in a patient with complete androgen insensitivity. ( 9423767 )
1997
42
Extraovarian sex cord-stromal tumor: case report and review of the literature. ( 9100075 )
1997
43
An enormous testicular sex cord/gonadal stromal tumor. ( 8811574 )
1996
44
Mixed germ cell-sex cord stromal tumor of the testis: the incidental finding of a rare testicular neoplasm. ( 7658567 )
1995
45
Characterization of gonadal sex cord-stromal tumor cell lines from inhibin-alpha and p53-deficient mice: the role of activin as an autocrine growth factor. ( 7997239 )
1994
46
Response of metastasized sex cord gonadal stromal tumor of the testis to cisplatin-based chemotherapy. ( 7510344 )
1994
47
Sertoli-Leydig cell testicular tumor: case report and review of sex cord/gonadal stromal tumor histogenesis. ( 1512847 )
1992
48
Malignant sex-cord stromal tumor of the testis: report of a case with special reference to its unusual intracytoplasmic substructures. ( 1283994 )
1992
49
Mixed germ cell-sex cord stromal tumor with heterologous structures. ( 1328081 )
1992
50
Polycystic sex cord-stromal tumor in a rat. ( 1667217 )
1991

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.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic/Likely pathogenic rs11554273 GRCh38 Chromosome 20, 58909365: 58909365
3 GNAS NM_000516.5(GNAS): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh37 Chromosome 20, 57484421: 57484421
4 GNAS NM_000516.5(GNAS): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh38 Chromosome 20, 58909366: 58909366

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 tissue development GO:0009888 9.49 NR5A1 WT1
3 adrenal gland development GO:0030325 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 positive regulation of male gonad development GO:2000020 9.32 NR5A1 WT1
8 sex determination GO:0007530 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....