MCID: OVR058
MIFTS: 31

Ovarian Small Cell Carcinoma

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

Aliases & Classifications for Ovarian Small Cell Carcinoma

MalaCards integrated aliases for Ovarian Small Cell Carcinoma:

Name: Ovarian Small Cell Carcinoma 12 53 15 73
Small Cell Carcinoma of the Ovary 53 59
Small Cell Ovarian Carcinoma 59
Scco 59

Classifications:



External Ids:

Disease Ontology 12 DOID:6179
NCIt 50 C27390
Orphanet 59 ORPHA370396
ICD10 via Orphanet 34 C56
UMLS 73 C2212006

Summaries for Ovarian Small Cell Carcinoma

NIH Rare Diseases : 53 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 rhabdoid cancer, 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 is 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 and lymph node.

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 99)
# Related Disease Score Top Affiliating Genes
1 small cell carcinoma 31.1 SMARCA4 SYP
2 rhabdoid cancer 27.5 DES MUC1 SYP WT1
3 hypercalcemic type ovarian small cell carcinoma 12.3
4 pulmonary type ovarian small cell carcinoma 12.2
5 rhabdoid tumor predisposition syndrome 2 11.0
6 childhood ovarian cancer 11.0
7 angiomyoma 10.3 PTHLH SYP
8 testicular granulosa cell tumor 10.3 SMARCA4 WT1
9 juvenile type testicular granulosa cell tumor 10.3 SMARCA4 WT1
10 chondromyxoid fibroma 10.3 DES PTHLH
11 pulmonary blastoma 10.2 DES SYP
12 glomus tumor 10.2 DES SYP
13 medullomyoblastoma 10.2 DES SYP
14 peritoneal serous adenocarcinoma 10.2 SYP WT1
15 dysgerminoma of ovary 10.2 PTHLH WT1
16 cauda equina neoplasm 10.2 SYP WT1
17 venous hemangioma 10.2 SYP WT1
18 cystic nephroma 10.1 DES WT1
19 large cell carcinoma 10.1 PTHLH SYP
20 ovarian mucinous neoplasm 10.1 SYP WT1
21 malignant mesenchymoma 10.0 DES WT1
22 uterine sarcoma 10.0 DES WT1
23 alveolar soft part sarcoma 10.0 DES SYP
24 chondrosarcoma, extraskeletal myxoid 10.0 SYP WT1
25 sex cord-gonadal stromal tumor 10.0 SYP WT1
26 muscle cancer 10.0 DES WT1
27 sinonasal undifferentiated carcinoma 9.9 MUC1 SYP
28 cutaneous leiomyosarcoma 9.9 DES MUC1
29 spindle cell thymoma 9.9 DES MUC1
30 papillary tumor of the pineal region 9.9 MUC1 SYP
31 middle ear adenoma 9.9 MUC1 SYP
32 parachordoma 9.9 DES MUC1
33 chordoid meningioma 9.9 MUC1 SYP
34 ossifying fibromyxoid tumor 9.9 DES MUC1
35 syringocystadenoma papilliferum 9.9 DES MUC1
36 spindle cell rhabdomyosarcoma 9.9 DES MUC1
37 biphasic synovial sarcoma 9.9 DES MUC1
38 syringoma 9.9 DES MUC1
39 mucinous ovarian cystadenoma 9.9 MUC1 SYP
40 pleomorphic liposarcoma 9.9 DES MUC1
41 ischemic fasciitis 9.9 DES MUC1
42 proximal spinal muscular atrophy 9.9 DES MUC1
43 anaplastic ependymoma 9.9 MUC1 SYP
44 reticulum cell sarcoma 9.9 DES MUC1
45 ampulla of vater neoplasm 9.9 MUC1 SYP
46 dedifferentiated liposarcoma 9.9 DES MUC1
47 ovarian cancer 1 9.9
48 mesenchymal chondrosarcoma 9.9 DES MUC1
49 plasmablastic lymphoma 9.9 DES MUC1
50 spindle cell sarcoma 9.9 DES MUC1

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

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 Nutraceutical 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

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:

41
Ovary, Lymph Node

Publications for Ovarian Small Cell Carcinoma

Articles related to Ovarian Small Cell Carcinoma:

(show all 36)
# Title Authors Year
1
Ovarian Small Cell Carcinoma: A Rare Case Report and Review of Literature. ( 29731803 )
2018
2
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
3
F-18 Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography Imaging for Diagnosing Ovarian Small Cell Carcinoma of the Hypercalcemic Type. ( 26941866 )
2016
4
A case of ovarian small cell carcinoma of the pulmonary type that was observed as it developed. ( 29787016 )
2016
5
Ovarian Small Cell Carcinoma Hypercalcemic Type: A Case Report >. ( 28124855 )
2016
6
Ovarian small-cell carcinoma hypercalcemic type successfully treated: a case report and literature review. ( 27042109 )
2016
7
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
8
Ovarian Small Cell Carcinoma of Pulmonary Type Arising in Mature Cystic Teratomas With Metastases to the Contralateral Ovary. ( 25990936 )
2015
9
Germline SMARCA4 mutations in patients with ovarian small cell carcinoma of hypercalcemic type. ( 25886974 )
2015
10
Ovarian small cell carcinoma of hypercalcemic type - evidence of germline origin and smarca4 gene inactivation. a pilot study. ( 24375037 )
2013
11
Primary ovarian small cell carcinoma of pulmonary type with enlarged paraaortic lymph node masses: a case report and review of the literature. ( 22873108 )
2012
12
Ovarian small cell carcinoma complicated by carcinomatous meningitis. ( 22826783 )
2012
13
Ovarian small cell carcinoma of hypercalcaemic-type: history of the disease in a patient who refused treatment. ( 21534770 )
2011
14
Ovarian small cell carcinoma, hypercalcemic type exhibiting a response to high-dose chemotherapy. ( 21117517 )
2010
15
Hypercalcemic-type ovarian small cell carcinoma with unique CD34 expression. ( 19788625 )
2009
16
Clinical management of ovarian small-cell carcinoma of the hypercalcemic type: a proposal for conservative surgery in an advanced stage of disease. ( 19407558 )
2009
17
Ovarian small cell carcinoma and cytokeratin perinuclear dotlike staining. ( 18227717 )
2008
18
Large cell variant ovarian small cell carcinoma: case report. ( 18958794 )
2008
19
A case of pulmonary type of ovarian small cell carcinoma. ( 17441897 )
2007
20
Complete remission of ovarian small cell carcinoma treated with irinotecan and cisplatin: a case report. ( 17695433 )
2007
21
Ovarian small cell carcinoma of the hypercalcemic type in children and adolescents: a prognostically unfavorable but curable disease. ( 16998935 )
2006
22
Primary ovarian small cell carcinoma of the pulmonary type: a case report and review of the literature. ( 15032292 )
2004
23
An immunohistochemical analysis of ovarian small cell carcinoma of hypercalcemic type. ( 15381902 )
2004
24
Establishment and characterization of a human ovarian small cell carcinoma, hypercalcemic type, cell line (OS-1) secreting PTH, PthrP and ACTH--special reference to the susceptibility of anti-cancer drugs. ( 16035505 )
2004
25
Pathological case of the month. Acute symptomatic hypercalcemia associated with ovarian small cell carcinoma. ( 11772197 )
2002
26
Ovarian small cell carcinoma: a rare neoplasm in a 15-year-old female. ( 10888454 )
2000
27
Ovarian small cell carcinoma of the hypercalcemic type in a 14 month old: the youngest reported case. ( 10102028 )
1999
28
Familial cluster of ovarian small cell carcinoma: a new mendelian entity? ( 8730291 )
1996
29
Ovarian small cell carcinoma with K-ras mutation: a case report with genetic analysis. ( 8543315 )
1996
30
Human parathyroid hormone-related protein in ovarian small cell carcinoma. An immunohistochemical study. ( 8137214 )
1994
31
Primary ovarian small cell carcinoma: four more cases. ( 8387062 )
1993
32
Primary ovarian small cell carcinoma of pulmonary type. A clinicopathologic, immunohistologic, and flow cytometric analysis of 11 cases. ( 1384368 )
1992
33
Ovarian small cell carcinoma: A case report with histologic, immunohistochemical and ultrastructural findings. ( 1652993 )
1991
34
Para-endocrine hypercalcemia and ovarian small cell carcinoma. ( 2159135 )
1990
35
Ovarian small cell carcinoma. ( 2159133 )
1990
36
Ovarian small cell carcinoma. Histogenetic considerations based on immunohistochemical and other findings. ( 2474244 )
1989

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

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 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

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

# Name GO ID Score Top Affiliating Genes
1 p53 binding GO:0002039 8.62 MUC1 SMARCA4

Sources for Ovarian Small Cell Carcinoma

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....