MCID: SML041
MIFTS: 35

Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Categories: Cancer diseases, Reproductive diseases

Aliases & Classifications for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

MalaCards integrated aliases for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type:

Name: Small-Cell Carcinoma of the Ovary of Hypercalcemic Type 12 15
Small Cell Carcinoma of the Ovary, Hypercalcemic Type 6
Hypercalcemic Type Ovarian Small Cell Carcinoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:7651
NCIt 49 C40439
UMLS 71 C1518736

Summaries for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Disease Ontology : 12 An ovarian small cell carcinoma that is associated with paraneoplastic hypercalcemia.

MalaCards based summary : Small-Cell Carcinoma of the Ovary of Hypercalcemic Type, also known as small cell carcinoma of the ovary, hypercalcemic type, is related to ovarian small cell carcinoma and small cell carcinoma. An important gene associated with Small-Cell Carcinoma of the Ovary of Hypercalcemic Type is SMARCA4 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4), and among its related pathways/superpathways are Gastric cancer and BRCA1 Pathway. The drugs Ipilimumab and nivolumab have been mentioned in the context of this disorder. Affiliated tissues include ovary, heart and thyroid.

Related Diseases for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Graphical network of the top 20 diseases related to Small-Cell Carcinoma of the Ovary of Hypercalcemic Type:



Diseases related to Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Symptoms & Phenotypes for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Drugs & Therapeutics for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Drugs for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ipilimumab Approved Phase 2 477202-00-9
2
nivolumab Approved Phase 2 946414-94-4
3 lysine Phase 2
4 Immunoglobulins Phase 2
5 Antibodies Phase 2
6 Antibodies, Monoclonal Phase 2
7 Antineoplastic Agents, Immunological 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 DART: Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors Recruiting NCT02834013 Phase 2
3 Tazemetostat Expanded Access Program for Adults With Solid Tumors Temporarily not available NCT03874455 Tazemetostat

Search NIH Clinical Center for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Genetic Tests for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Anatomical Context for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

MalaCards organs/tissues related to Small-Cell Carcinoma of the Ovary of Hypercalcemic Type:

40
Ovary, Heart, Thyroid, Uterus, Testes, Cervix

Publications for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Articles related to Small-Cell Carcinoma of the Ovary of Hypercalcemic Type:

(show top 50) (show all 71)
# Title Authors PMID Year
1
Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT) beyond SMARCA4 Mutations: A Comprehensive Genomic Analysis. 61
32575483 2020
2
Optimal age for genetic cancer predisposition testing in hereditary SMARCA4 Ovarian Cancer Families: How young is too young? 61
32382648 2020
3
Arginine depletion therapy with ADI-PEG20 limits tumor growth in argininosuccinate synthase deficient ovarian cancer, including small cell carcinoma of the ovary, hypercalcemic type. 61
32409304 2020
4
Successful pregnancy following chemotherapy in a survivor of small cell carcinoma of the ovary, hypercalcemic type (SCCOHT): A case report and review of literature. 61
32405521 2020
5
Germline mutations of SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type and in SMARCA4-deficient undifferentiated uterine sarcoma: Clinical features of a single family and comparison of large cohorts. 61
31954538 2020
6
Small-Cell Carcinoma of the Ovary, Hypercalcemic Type-Genetics, New Treatment Targets, and Current Management Guidelines. 61
32156746 2020
7
Loss of BRG1 (SMARCA4) Immunoexpression in a Pediatric Non-Central Nervous System Tumor Cohort. 61
31403913 2020
8
Small Cell Carcinoma of Ovary, Hypercalcemic Type (Malignant Rhabdoid Tumor of Ovary) with Loss of SMARCA4 (BRG1) Expression: Report of Two Cases. 61
32149361 2020
9
Mixed Serous and Clear Cell Adenocarcinoma of the Ovary Presenting with Symptomatic Hypercalcemia: A Case Report and Clinical Considerations. 61
32069206 2020
10
[Pathological and molecular features of malignancies underlined by BAF complexes inactivation]. 61
31255411 2019
11
SMARCA4 inactivation defines a subset of undifferentiated uterine sarcomas with rhabdoid and small cell features and germline mutation association. 61
31190001 2019
12
Pembrolizumab-Induced Thyroiditis. 61
31111437 2019
13
The dilemma of early preventive oophorectomy in familial small cell carcinoma of the ovary of hypercalcemic type. 61
30886884 2019
14
SMARCA4-deficient Thoracic Sarcomas: Clinicopathologic Study of 30 Cases With an Emphasis on Their Nosology and Differential Diagnoses. 61
30451731 2019
15
The ATPase module of mammalian SWI/SNF family complexes mediates subcomplex identity and catalytic activity-independent genomic targeting. 61
30858614 2019
16
Ovarian small cell carcinoma in one of a pair of monozygous twins. 61
30284660 2019
17
CDK4/6 inhibitors target SMARCA4-determined cyclin D1 deficiency in hypercalcemic small cell carcinoma of the ovary. 61
30718512 2019
18
Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT): a challenge for clinicopathological diagnosis. 61
31934039 2019
19
An In-Depth Look at Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT): Clinical Implications from Recent Molecular Findings. 61
30662543 2019
20
Histone Deacetylase Inhibitors Synergize with Catalytic Inhibitors of EZH2 to Exhibit Antitumor Activity in Small Cell Carcinoma of the Ovary, Hypercalcemic Type. 61
30232145 2018
21
SWI/SNF Complexes in Ovarian Cancer: Mechanistic Insights and Therapeutic Implications. 61
30037854 2018
22
Multimodal molecular analysis of an atypical small cell carcinoma of the ovary, hypercalcemic type. 61
30275002 2018
23
Small Cell Carcinoma of the Ovary, Hypercalcemic Type: Clinical and Imaging Review. 61
28943050 2018
24
SMARCA4-deficient undifferentiated uterine sarcoma (malignant rhabdoid tumor of the uterus): a clinicopathologic entity distinct from undifferentiated carcinoma. 61
29700418 2018
25
Two types of small cell carcinoma of the ovary: Two typical case reports. 61
30094313 2018
26
Immune-Active Microenvironment in Small Cell Carcinoma of the Ovary, Hypercalcemic Type: Rationale for Immune Checkpoint Blockade. 61
29365144 2018
27
Hereditary SWI/SNF complex deficiency syndromes. 61
29397238 2018
28
Cytological features of small cell carcinoma of the ovary-hypercalcemic type/malignant ovarian rhabdoid tumor in ascitic fluid. 61
29446248 2018
29
Ponatinib Shows Potent Antitumor Activity in Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT) through Multikinase Inhibition. 61
29440177 2018
30
Successful treatment of a stage IIIC small-cell carcinoma of the ovary hypercalcemic subtype using multi-modality therapeutic approach. 61
29910829 2018
31
Identification of Driver Mutations in Rare Cancers: The Role of SMARCA4 in Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT). 61
29423809 2018
32
Comprehensive genomic profiling reveals inactivating SMARCA4 mutations and low tumor mutational burden in small cell carcinoma of the ovary, hypercalcemic-type. 61
29102090 2017
33
Rhabdoid Tumor Predisposition Syndrome 61
29215836 2017
34
Association of Li-Fraumeni Syndrome With Small Cell Carcinoma of the Ovary, Hypercalcemic Type and Concurrent Pleomorphic Liposarcoma of the Cervix. 61
28177947 2017
35
SMARCA4 germline gene mutation in a patient with epithelial ovarian: A case report. 61
29204511 2017
36
The hereditary nature of small cell carcinoma of the ovary, hypercalcemic type: two new familial cases. 61
27866340 2017
37
Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome. 61
28620006 2017
38
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. 61
28292935 2017
39
SMARCA4-Deficient Carcinoma of Unknown Primary Presenting with Fatal Paraneoplastic Hypercalcemia in a Heart Transplant Recipient: First Report in a Male Patient. 61
29158936 2017
40
Small cell carcinoma of the ovary hypercalcemic type (SCCOHT): A rare case after in vitro fertilization (IVF). 61
28367208 2017
41
Refractory Small Cell Carcinoma of the Ovary - Hypercalcemic Type (SCCOHT) Treated with Romidepsin and Topotecan: A Case Report and Review of the Literature. 61
29772136 2016
42
Rare non-epithelial ovarian neoplasms: Pathology, genetics and treatment. 61
27079213 2016
43
The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type. 61
26975901 2016
44
Small-Cell Carcinoma of the Ovary of Hypercalcemic Type (Malignant Rhabdoid Tumor of the Ovary): A Review with Recent Developments on Pathogenesis. 61
27241105 2016
45
Small Cell Carcinoma of the Ovary (Hypercalcemic Type): Malignant Rhabdoid Tumor. 61
27462229 2016
46
Loss of SMARCA4 Expression Is Both Sensitive and Specific for the Diagnosis of Small Cell Carcinoma of Ovary, Hypercalcemic Type. 61
26645725 2016
47
Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor. 61
26646792 2016
48
Small Cell Carcinoma of the Ovary, Hypercalcemic Type: Report of a Bilateral Case in a Teenager Associated with SMARCA4 Germline Mutation. 61
26230154 2016
49
Small cell carcinoma of the ovary-hypercalcemic type (SCCOHT): A review of 47 cases. 61
26546963 2016
50
Concomitant loss of SMARCA2 and SMARCA4 expression in small cell carcinoma of the ovary, hypercalcemic type. 61
26564006 2016

Variations for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

ClinVar genetic disease variations for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TP53 NM_001126112.2(TP53):c.594_611del (p.Gly199_Glu204del)deletion Likely pathogenic 560921 rs1567551704 17:7578238-7578255 17:7674920-7674937

Cosmic variations for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type:

9 (show top 50) (show all 660)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM91385090 WT1 ovary,NS,carcinoma,small cell carcinoma c.1240A>C p.K414Q 11:32396266-32396266 9
2 COSM87905712 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.775G>T p.D259Y 17:7674188-7674188 9
3 COSM87929008 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.584T>A p.I195N 17:7674947-7674947 9
4 COSM87897745 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.524G>A p.R175H 17:7675088-7675088 9
5 COSM87909792 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.919+1G>T p.? 17:7673700-7673700 9
6 COSM87897711 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.818G>A p.R273H 17:7673802-7673802 9
7 COSM87912901 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.376-2A>G p.? 17:7675238-7675238 9
8 COSM87905212 TP53 ovary,NS,carcinoma,small cell carcinoma c.761T>A p.I254N 17:7674202-7674202 9
9 COSM87897627 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.574C>T p.Q192* 17:7674957-7674957 9
10 COSM87898714 TP53 ovary,NS,carcinoma,small cell carcinoma c.844C>T p.R282W 17:7673776-7673776 9
11 COSM89660520 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3168+1G>C p.? 19:11025509-11025509 9
12 COSM89654758 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2275-1G>T p.? 19:11012948-11012948 9
13 COSM89651448 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3496C>T p.Q1166* 19:11030843-11030843 9
14 COSM89654889 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.1761+1G>A p.? 19:10996381-10996381 9
15 COSM89670353 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.561C>G p.Y187* 19:10986394-10986394 9
16 COSM89666940 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3546+1G>A p.? 19:11030894-11030894 9
17 COSM89668454 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.1419+1G>T p.? 19:10991324-10991324 9
18 COSM89658278 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2439-2A>T p.? 19:11018955-11018955 9
19 COSM89651635 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3277C>T p.R1093* 19:11027845-11027845 9
20 COSM89666925 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3760G>T p.E1254* 19:11033503-11033503 9
21 COSM89670936 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2859+1G>A p.? 19:11021968-11021968 9
22 COSM89658270 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2438+1G>A p.? 19:11013113-11013113 9
23 COSM89655012 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2973+1G>A p.? 19:11023632-11023632 9
24 COSM89658287 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.1378C>T p.Q460* 19:10991282-10991282 9
25 COSM89668792 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.4170+1G>A p.? 19:11035133-11035133 9
26 COSM89670944 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3565C>T p.R1189* 19:11033308-11033308 9
27 COSM89669008 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.1245+1G>T p.? 19:10989444-10989444 9
28 COSM89660509 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2915T>C p.L972P 19:11023573-11023573 9
29 COSM89670368 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.1761+2T>A p.? 19:10996382-10996382 9
30 COSM89650481 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3676C>T p.Q1226* 19:11033419-11033419 9
31 COSM89659508 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3546+1G>T p.? 19:11030894-11030894 9
32 COSM89653644 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.991C>T p.Q331* 19:10987797-10987797 9
33 COSM89653475 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3168+1G>A p.? 19:11025509-11025509 9
34 COSM89654894 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2539C>T p.Q847* 19:11019624-11019624 9
35 COSM89668803 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2506G>T p.G836* 19:11019591-11019591 9
36 COSM89670359 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2362C>T p.Q788* 19:11013036-11013036 9
37 COSM97072552 PTPRT ovary,NS,carcinoma,small cell carcinoma c.3814C>G p.L1272V 20:42098510-42098510 9
38 COSM90607728 POLE ovary,NS,carcinoma,small cell carcinoma c.861T>A p.D287E 12:132676594-132676594 9
39 COSM129136451 KMT2A ovary,NS,carcinoma,small cell carcinoma c.9014A>T p.D3005V 11:118504906-118504906 9
40 COSM93210112 ovary,NS,carcinoma,undifferentiated carcinoma c.584T>A p.I195N 17:7674947-7674947 9
41 COSM105626718 ovary,NS,carcinoma,small cell carcinoma c.761T>A p.I254N 17:7674202-7674202 9
42 COSM131034075 ovary,NS,carcinoma,small cell carcinoma c.2362C>T p.Q788* 19:11013036-11013036 9
43 COSM112265718 ovary,NS,carcinoma,undifferentiated carcinoma c.376-2A>G p.? 17:7675238-7675238 9
44 COSM148052745 ovary,NS,carcinoma,small cell carcinoma c.2275-1G>T p.? 19:11012948-11012948 9
45 COSM151629014 ovary,NS,carcinoma,small cell carcinoma c.3546+1G>A p.? 19:11030894-11030894 9
46 COSM151620795 ovary,NS,carcinoma,small cell carcinoma c.3496C>T p.Q1166* 19:11030843-11030843 9
47 COSM109730347 ovary,NS,carcinoma,small cell carcinoma c.991C>T p.Q331* 19:10987797-10987797 9
48 COSM143944155 ovary,NS,carcinoma,small cell carcinoma c.367C>T p.R123W 17:7673776-7673776 9
49 COSM151424425 ovary,NS,carcinoma,small cell carcinoma c.2915T>C p.L972P 19:11023573-11023573 9
50 COSM151419262 ovary,NS,carcinoma,small cell carcinoma c.3277C>T p.R1093* 19:11027845-11027845 9

Expression for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Search GEO for disease gene expression data for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type.

Pathways for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Pathways related to Small-Cell Carcinoma of the Ovary of Hypercalcemic Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.59 SMARCD2 SMARCA4 DPF3 DPF1
2
Show member pathways
11.07 SMARCD2 SMARCA4
3
Show member pathways
10.8 SMARCD2 SMARCA4

GO Terms for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Cellular components related to Small-Cell Carcinoma of the Ovary of Hypercalcemic Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.56 SMARCD2 SMARCA4 DPF3 DPF1
2 histone acetyltransferase complex GO:0000123 9.16 DPF3 DPF1
3 SWI/SNF complex GO:0016514 9.13 SMARCD2 SMARCA4 BICRAL
4 nBAF complex GO:0071565 8.92 SS18L1 SMARCA4 DPF3 DPF1

Biological processes related to Small-Cell Carcinoma of the Ovary of Hypercalcemic Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 histone acetylation GO:0016573 9.26 DPF3 DPF1
2 ATP-dependent chromatin remodeling GO:0043044 9.16 SMARCD2 SMARCA4
3 nucleosome disassembly GO:0006337 8.96 SMARCD2 SMARCA4
4 chromatin organization GO:0006325 8.92 SS18L1 SMARCD2 SMARCA4 DPF3

Molecular functions related to Small-Cell Carcinoma of the Ovary of Hypercalcemic Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 histone acetyltransferase activity GO:0004402 9.26 DPF3 DPF1
2 nucleosomal DNA binding GO:0031492 9.16 SMARCD2 SMARCA4
3 histone binding GO:0042393 9.13 SMARCA4 DPF3 DPF1
4 transcription coactivator activity GO:0003713 8.92 SS18L1 SMARCD2 SMARCA4 BICRAL

Sources for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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