MCID: OVR058
MIFTS: 39

Ovarian Small Cell Carcinoma

Categories: Cancer diseases, Endocrine diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Ovarian Small Cell Carcinoma

MalaCards integrated aliases for Ovarian Small Cell Carcinoma:

Name: Ovarian Small Cell Carcinoma 12 54 15 17 74
Small Cell Carcinoma of the Ovary 54 60
Small Cell Ovarian Carcinoma 60
Scco 60

Classifications:



External Ids:

Disease Ontology 12 DOID:6179
NCIt 51 C27390
ICD10 via Orphanet 35 C56
Orphanet 60 ORPHA370396
UMLS 74 C2212006

Summaries for Ovarian Small Cell Carcinoma

NIH Rare Diseases : 54 Ovarian small cell carcinoma is a rare form of ovarian cancer that typically occurs in young women. It is typically an aggressive cancer that can spread (metastasize) to other parts of the body. There are two types of ovarian small cell carcinoma: hypercalcemic and pulmonary. Approximately 2/3 of individuals with ovarian small cell carcinoma have the hypercalcemic type. Symptoms are fairly nonspecific and are similar to other types of ovarian cancer. Symptoms may include: bloating, pelvic or abdominal pain, and appetite changes. Treatment may involve surgery to remove the tumor/tumors if the cancer is detected at an early stage, chemotherapy, and radiation therapy.

MalaCards based summary : Ovarian Small Cell Carcinoma, also known as small cell carcinoma of the ovary, is related to small cell carcinoma and atypical teratoid rhabdoid tumor, and has symptoms including abdominal pain An important gene associated with Ovarian Small Cell Carcinoma is SMARCA4 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. The drug lysine has been mentioned in the context of this disorder. Affiliated tissues include ovary, bone and lymph node, and related phenotypes are cardiovascular system and liver/biliary system

Disease Ontology : 12 An ovarian carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.

Related Diseases for Ovarian Small Cell Carcinoma

Diseases in the Ovarian Clear Cell Carcinoma family:

Ovarian Small Cell Carcinoma

Diseases related to Ovarian Small Cell Carcinoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 small cell carcinoma 31.2 SMARCA4 SYP
2 atypical teratoid rhabdoid tumor 30.0 SMARCA4 SYP
3 pleomorphic liposarcoma 29.7 DES INHA
4 rhabdoid cancer 29.5 SMARCA4 SYP WT1
5 hypercalcemic type ovarian small cell carcinoma 12.7
6 pulmonary type ovarian small cell carcinoma 12.6
7 rhabdoid tumor predisposition syndrome 2 11.5
8 childhood ovarian cancer 11.2
9 ovarian cancer 10.3
10 ovarian cancer 1 10.3
11 angiomyoma 10.1 PTHLH SYP
12 testicular granulosa cell tumor 10.1 SMARCA4 WT1
13 juvenile type testicular granulosa cell tumor 10.1 SMARCA4 WT1
14 granulosa cell tumor of the ovary 10.1 INHA SYP
15 peritoneal serous adenocarcinoma 10.0 SYP WT1
16 dysgerminoma 10.0 PTHLH WT1
17 cauda equina neoplasm 10.0 SYP WT1
18 venous hemangioma 10.0 SYP WT1
19 dysgerminoma of ovary 10.0 PTHLH WT1
20 male reproductive organ benign neoplasm 10.0 SYP WT1
21 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 10.0 INHA SYP
22 cystadenoma 10.0 INHA SYP
23 large cell carcinoma 10.0 PTHLH SYP
24 ovarian mucinous neoplasm 10.0 SYP WT1
25 hemangioblastoma 10.0 INHA SYP
26 chondrosarcoma, extraskeletal myxoid 10.0 SYP WT1
27 coffin-siris syndrome 1 9.9
28 li-fraumeni syndrome 9.9
29 li-fraumeni syndrome 2 9.9
30 microphthalmia 9.9
31 neuroendocrine tumor 9.9
32 liposarcoma 9.9
33 pancreatitis 9.9
34 chondromyxoid fibroma 9.9 DES PTHLH
35 perivascular epithelioid cell tumor 9.9 DES SYP
36 pulmonary blastoma 9.9 DES SYP
37 extraskeletal ewing sarcoma 9.9 DES SYP
38 glomus tumor 9.9 DES SYP
39 granular cell tumor 9.9 DES INHA
40 medullomyoblastoma 9.9 DES SYP
41 breast cancer 9.9
42 endometrial cancer 9.9
43 calcinosis 9.9
44 constipation 9.9
45 meningitis 9.9
46 cystic nephroma 9.9 DES WT1
47 spindle cell carcinoma 9.8 DES SYP
48 cavernous hemangioma 9.8 DES SYP
49 malignant mesenchymoma 9.8 DES WT1
50 uterine sarcoma 9.8 DES WT1

Graphical network of the top 20 diseases related to Ovarian Small Cell Carcinoma:



Diseases related to Ovarian Small Cell Carcinoma

Symptoms & Phenotypes for Ovarian Small Cell Carcinoma

UMLS symptoms related to Ovarian Small Cell Carcinoma:


abdominal pain

MGI Mouse Phenotypes related to Ovarian Small Cell Carcinoma:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 DES INHA PTHLH SMARCA4 WT1
2 liver/biliary system MP:0005370 9.46 INHA PTHLH SMARCA4 WT1
3 neoplasm MP:0002006 9.26 INHA PTHLH SMARCA4 WT1
4 normal MP:0002873 9.02 INHA PTHLH SMARCA4 SYP WT1

Drugs & Therapeutics for Ovarian Small Cell Carcinoma

Drugs for Ovarian Small Cell Carcinoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 lysine Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II, Multicenter Study of the EZH2 Inhibitor Tazemetostat in Adult Subjects With INI1-Negative Tumors or Relapsed/Refractory Synovial Sarcoma Recruiting NCT02601950 Phase 2 Tazemetostat
2 International Ovarian & Testicular Stromal Tumor Registry Recruiting NCT01970696
3 Tazemetostat Expanded Access Program for Adults With Solid Tumors Temporarily not available NCT03874455 Tazemetostat

Search NIH Clinical Center for Ovarian Small Cell Carcinoma

Genetic Tests for Ovarian Small Cell Carcinoma

Anatomical Context for Ovarian Small Cell Carcinoma

MalaCards organs/tissues related to Ovarian Small Cell Carcinoma:

42
Ovary, Bone, Lymph Node, Cervix, Bone Marrow

Publications for Ovarian Small Cell Carcinoma

Articles related to Ovarian Small Cell Carcinoma:

(show top 50) (show all 140)
# Title Authors Year
1
Ovarian small cell carcinoma in one of a pair of monozygous twins. ( 30284660 )
2019
2
Ovarian Small Cell Carcinoma of Hypercalcemic Type in an Adolescent Girl. ( 30956495 )
2019
3
An In-Depth Look at Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT): Clinical Implications from Recent Molecular Findings. ( 30662543 )
2019
4
CDK4/6 inhibitors target SMARCA4-determined cyclin D1 deficiency in hypercalcemic small cell carcinoma of the ovary. ( 30718512 )
2019
5
Cytologic diagnosis of small cell carcinoma of the ovary: A case report with review of the literature. ( 30821422 )
2019
6
The dilemma of early preventive oophorectomy in familial small cell carcinoma of the ovary of hypercalcemic type. ( 30886884 )
2019
7
Ovarian Small Cell Carcinoma: A Rare Case Report and Review of Literature. ( 29731803 )
2018
8
Primary ovarian small cell carcinoma of pulmonary type with coexisting endometrial carcinoma in a breast cancer patient receiving tamoxifen: A case report and literature review. ( 29879027 )
2018
9
Pediatric Patients with Small-Cell Carcinoma of the Ovary Have Similar Survival to Adults: A Review of the National Cancer Database. ( 30269708 )
2018
10
Multimodal molecular analysis of an atypical small cell carcinoma of the ovary, hypercalcemic type. ( 30275002 )
2018
11
Small Cell Carcinoma of the Ovary, Hypercalcemic Type: Clinical and Imaging Review. ( 28943050 )
2018
12
Immune-Active Microenvironment in Small Cell Carcinoma of the Ovary, Hypercalcemic Type: Rationale for Immune Checkpoint Blockade. ( 29365144 )
2018
13
Identification of Driver Mutations in Rare Cancers: The Role of SMARCA4 in Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT). ( 29423809 )
2018
14
Ponatinib Shows Potent Antitumor Activity in Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT) through Multikinase Inhibition. ( 29440177 )
2018
15
Cytological features of small cell carcinoma of the ovary-hypercalcemic type/malignant ovarian rhabdoid tumor in ascitic fluid. ( 29446248 )
2018
16
Small Cell Carcinoma of the Ovary: A Rare Tumor With a Poor Prognosis. ( 29621125 )
2018
17
Successful treatment of a stage IIIC small-cell carcinoma of the ovary hypercalcemic subtype using multi-modality therapeutic approach. ( 29910829 )
2018
18
Two types of small cell carcinoma of the ovary: Two typical case reports. ( 30094313 )
2018
19
Histone Deacetylase Inhibitors Synergize with Catalytic Inhibitors of EZH2 to Exhibit Antitumor Activity in Small Cell Carcinoma of the Ovary, Hypercalcemic Type. ( 30232145 )
2018
20
Association of Li-Fraumeni Syndrome With Small Cell Carcinoma of the Ovary, Hypercalcemic Type and Concurrent Pleomorphic Liposarcoma of the Cervix. ( 28177947 )
2017
21
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type. ( 28608987 )
2017
22
Comprehensive genomic profiling reveals inactivating SMARCA4 mutations and low tumor mutational burden in small cell carcinoma of the ovary, hypercalcemic-type. ( 29102090 )
2017
23
The hereditary nature of small cell carcinoma of the ovary, hypercalcemic type: two new familial cases. ( 27866340 )
2017
24
Clinical, morphological and immunohistochemical evidence that small-cell carcinoma of the ovary of hypercalcaemic type (SCCOHT) may be a primitive germ-cell neoplasm. ( 28130795 )
2017
25
Selective Killing of SMARCA2- and SMARCA4-deficient Small Cell Carcinoma of the Ovary, Hypercalcemic Type Cells by Inhibition of EZH2: In Vitro and In Vivo Preclinical Models. ( 28292935 )
2017
26
Small cell carcinoma of the ovary hypercalcemic type (SCCOHT): A rare case after in vitro fertilization (IVF). ( 28367208 )
2017
27
The histone methyltransferase EZH2 is a therapeutic target in small cell carcinoma of the ovary, hypercalcaemic type. ( 28444909 )
2017
28
Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor. ( 26646792 )
2016
29
F-18 Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography Imaging for Diagnosing Ovarian Small Cell Carcinoma of the Hypercalcemic Type. ( 26941866 )
2016
30
Ovarian small-cell carcinoma hypercalcemic type successfully treated: a case report and literature review. ( 27042109 )
2016
31
Ovarian Small Cell Carcinoma Hypercalcemic Type: A Case Report >. ( 28124855 )
2016
32
A case of ovarian small cell carcinoma of the pulmonary type that was observed as it developed. ( 29787016 )
2016
33
Dual loss of the SWI/SNF complex ATPases SMARCA4/BRG1 and SMARCA2/BRM is highly sensitive and specific for small cell carcinoma of the ovary, hypercalcaemic type. ( 26356327 )
2016
34
Small cell carcinoma of the ovary-hypercalcemic type (SCCOHT): A review of 47 cases. ( 26546963 )
2016
35
Concomitant loss of SMARCA2 and SMARCA4 expression in small cell carcinoma of the ovary, hypercalcemic type. ( 26564006 )
2016
36
The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type. ( 26975901 )
2016
37
Loss of SMARCA4 (BRG1) protein expression as determined by immunohistochemistry in small-cell carcinoma of the ovary, hypercalcaemic type distinguishes these tumours from their mimics. ( 27100627 )
2016
38
Small-Cell Carcinoma of the Ovary of Hypercalcemic Type (Malignant Rhabdoid Tumor of the Ovary): A Review with Recent Developments on Pathogenesis. ( 27241105 )
2016
39
Small Cell Carcinoma of the Ovary (Hypercalcemic Type): Malignant Rhabdoid Tumor. ( 27462229 )
2016
40
Refractory Small Cell Carcinoma of the Ovary - Hypercalcemic Type (SCCOHT) Treated with Romidepsin and Topotecan: A Case Report and Review of the Literature. ( 29772136 )
2016
41
Small Cell Carcinoma of the Ovary, Hypercalcemic Type: Report of a Bilateral Case in a Teenager Associated with SMARCA4 Germline Mutation. ( 26230154 )
2016
42
Germline SMARCA4 mutations in patients with ovarian small cell carcinoma of hypercalcemic type. ( 25886974 )
2015
43
Ovarian Small Cell Carcinoma of Pulmonary Type Arising in Mature Cystic Teratomas With Metastases to the Contralateral Ovary. ( 25990936 )
2015
44
SMARCA4 (BRG1) loss of expression is a useful marker for the diagnosis of ovarian small cell carcinoma of the hypercalcemic type (ovarian rhabdoid tumor): a comprehensive analysis of 116 rare gynecologic tumors, 9 soft tissue tumors, and 9 melanomas. ( 26135561 )
2015
45
Biallelic somatic SMARCA4 mutations in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT). ( 25307865 )
2015
46
Small cell carcinoma of the ovary of the hypercalcemic type (SCCOHT)--case report. ( 25872342 )
2015
47
Hypercalcemic type of small cell carcinoma of the ovary. ( 25958485 )
2015
48
Population-based Analysis of the Clinical Features of Primary Small Cell Carcinoma of the Ovary. ( 25964600 )
2015
49
Radiotherapy for recurrent small cell carcinoma of the ovary: A case report and review of the literature. ( 26076089 )
2015
50
Prophylactic oophorectomy for hereditary small cell carcinoma of the ovary, hypercalcemic type. ( 26076152 )
2015

Variations for Ovarian Small Cell Carcinoma

Cosmic variations for Ovarian Small Cell Carcinoma:

9 (show all 37)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM3724504 WT1 ovary,NS,carcinoma,small cell carcinoma c.1036A>C p.K346Q 11:32396266-32396266 0
2 COSM10704 TP53 ovary,NS,carcinoma,small cell carcinoma c.844C>T p.R282W 17:7673776-7673776 0
3 COSM44535 TP53 ovary,NS,carcinoma,small cell carcinoma c.761T>A p.I254N 17:7674202-7674202 0
4 COSM6493920 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.1245+1G>T p.? 19:10989444-10989444 0
5 COSM3724530 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2439-2A>T p.? 19:11018955-11018955 0
6 COSM3724498 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.4170+1G>A p.? 19:11035133-11035133 0
7 COSM1737873 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3277C>T p.R1093* 19:11027845-11027845 0
8 COSM3735018 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.561C>G p.Y187* 19:10986394-10986394 0
9 COSM3724528 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3168+1G>A p.? 19:11025509-11025509 0
10 COSM3724529 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2438+1G>A p.? 19:11013113-11013113 0
11 COSM3735032 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.1419+1G>T p.? 19:10991324-10991324 0
12 COSM3724497 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3546+1G>A p.? 19:11030894-11030894 0
13 COSM1737872 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3760G>T p.E1254* 19:11033503-11033503 0
14 COSM3735019 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2362C>T p.Q788* 19:11013036-11013036 0
15 COSM1524017 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2539C>T p.Q847* 19:11019624-11019624 0
16 COSM3724525 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3565C>T p.R1189* 19:11033308-11033308 0
17 COSM3735034 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.1761+2T>A p.? 19:10996382-10996382 0
18 COSM3724491 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3496C>T p.Q1166* 19:11030843-11030843 0
19 COSM3735016 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.1378C>T p.Q460* 19:10991282-10991282 0
20 COSM3724500 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2859+1G>A p.? 19:11021968-11021968 0
21 COSM3735020 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3676C>T p.Q1226* 19:11033419-11033419 0
22 COSM3724499 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.1761+1G>A p.? 19:10996381-10996381 0
23 COSM3735035 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3168+1G>C p.? 19:11025509-11025509 0
24 COSM3724490 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2506G>T p.G836* 19:11019591-11019591 0
25 COSM3735028 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2915T>C p.L972P 19:11023573-11023573 0
26 COSM3735030 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2275-1G>T p.? 19:11012948-11012948 0
27 COSM6493921 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2973+1G>A p.? 19:11023632-11023632 0
28 COSM335837 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.991C>T p.Q331* 19:10987797-10987797 0
29 COSM368689 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3546+1G>T p.? 19:11030894-11030894 0
30 COSM6942904 PTPRT ovary,NS,carcinoma,small cell carcinoma c.3823C>G p.L1275V 20:42098510-42098510 0
31 COSM6493919 POLE ovary,NS,carcinoma,small cell carcinoma c.861T>A p.D287E 12:132676594-132676594 0
32 COSM6942903 KMT2A ovary,NS,carcinoma,small cell carcinoma c.9005A>T p.D3002V 11:118504906-118504906 0
33 COSM99925 ovary,NS,carcinoma,small cell carcinoma c.844C>T p.R282W 17:7673776-7673776 0
34 COSM6942902 ovary,NS,carcinoma,small cell carcinoma c.9014A>T p.D3005V 11:118504906-118504906 0
35 COSM3378339 ovary,NS,carcinoma,small cell carcinoma c.844C>T p.R282W 17:7673776-7673776 0
36 COSM6942905 ovary,NS,carcinoma,small cell carcinoma c.3787C>G p.L1263V 20:42098510-42098510 0
37 COSM1636702 ovary,NS,carcinoma,small cell carcinoma c.844C>T p.R282W 17:7673776-7673776 0

Expression for Ovarian Small Cell Carcinoma

Search GEO for disease gene expression data for Ovarian Small Cell Carcinoma.

Pathways for Ovarian Small Cell Carcinoma

Pathways related to Ovarian Small Cell Carcinoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.08 SMARCA4 WT1
2 10.52 SMARCA4 SYP

GO Terms for Ovarian Small Cell Carcinoma

Cellular components related to Ovarian Small Cell Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuromuscular junction GO:0031594 8.62 DES SYP

Biological processes related to Ovarian Small Cell Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell growth GO:0030308 9.16 SMARCA4 WT1
2 male gonad development GO:0008584 8.96 INHA WT1
3 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 8.62 SMARCA4 WT1

Molecular functions related to Ovarian Small Cell Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.62 INHA PTHLH

Sources for Ovarian Small Cell Carcinoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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