MCID: SML041
MIFTS: 35

Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Categories: Cancer diseases, Endocrine 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 50 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 rhabdoid cancer. An important gene associated with Small-Cell Carcinoma of the Ovary of Hypercalcemic Type is TP53 (Tumor Protein P53), and among its related pathways/superpathways are Gastric cancer and BRCA1 Pathway. Affiliated tissues include ovary, uterus and cervix, and related phenotypes are Decreased TP53 mRNA expression and Decreased TP53 mRNA expression

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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased TP53 mRNA expression GR00389-S-5 9.13 TP53
2 Decreased TP53 mRNA expression GR00389-S-6 9.13 SMARCD2 TP53
3 Increased Nanog expression GR00371-A-1 9.02 DPF1 DPF2 SMARCA4
4 Increased Nanog expression GR00371-A-2 9.02 DPF2
5 Increased Nanog expression GR00371-A-3 9.02 DPF2

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

Search Clinical Trials , 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, Uterus, 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 80)
# Title Authors PMID Year
1
Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases. 61
33331994 2021
2
Re-assigning the histologic identities of COV434 and TOV-112D ovarian cancer cell lines. 61
33328126 2021
3
SMARCA4 (BRG1) and SMARCB1 (INI1) expression in TTF-1 negative neuroendocrine carcinomas including merkel cell carcinoma. 61
33581550 2021
4
Reprogramming of Nucleotide Metabolism Mediates Synergy between Epigenetic Therapy and MAP Kinase Inhibition. 61
33087508 2021
5
Re-expression of SMARCA4/BRG1 in small cell carcinoma of ovary, hypercalcemic type (SCCOHT) promotes an epithelial-like gene signature through an AP-1-dependent mechanism. 61
33355532 2020
6
Dose-intensive regimen treatment for small-cell carcinoma of the ovary of hypercalcemic type (SCCOHT). 61
32723678 2020
7
Small cell carcinoma of the ovary hypercalcemic type (SCCOHT): Comprehensive management of a newly diagnosed young adult. 61
32654763 2020
8
Small-Cell Carcinoma of the Ovary, Hypercalcemic Type-Genetics, New Treatment Targets, and Current Management Guidelines. 61
32156746 2020
9
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
10
Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT) beyond SMARCA4 Mutations: A Comprehensive Genomic Analysis. 61
32575483 2020
11
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
12
Optimal age for genetic cancer predisposition testing in hereditary SMARCA4 Ovarian Cancer Families: How young is too young? 61
32382648 2020
13
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
14
Loss of BRG1 (SMARCA4) Immunoexpression in a Pediatric Non-Central Nervous System Tumor Cohort. 61
31403913 2020
15
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
16
Mixed Serous and Clear Cell Adenocarcinoma of the Ovary Presenting with Symptomatic Hypercalcemia: A Case Report and Clinical Considerations. 61
32069206 2020
17
The novel reversible LSD1 inhibitor SP-2577 promotes anti-tumor immunity in SWItch/Sucrose-NonFermentable (SWI/SNF) complex mutated ovarian cancer. 61
32649682 2020
18
Combined CDK4/6 and PD-1 Inhibition in Refractory SMARCA4-Deficient Small-Cell Carcinoma of the Ovary, Hypercalcemic Type. 61
32704608 2020
19
[Pathological and molecular features of malignancies underlined by BAF complexes inactivation]. 61
31255411 2019
20
SMARCA4 inactivation defines a subset of undifferentiated uterine sarcomas with rhabdoid and small cell features and germline mutation association. 61
31190001 2019
21
Pembrolizumab-Induced Thyroiditis. 61
31111437 2019
22
The dilemma of early preventive oophorectomy in familial small cell carcinoma of the ovary of hypercalcemic type. 61
30886884 2019
23
Ovarian small cell carcinoma in one of a pair of monozygous twins. 61
30284660 2019
24
SMARCA4-deficient Thoracic Sarcomas: Clinicopathologic Study of 30 Cases With an Emphasis on Their Nosology and Differential Diagnoses. 61
30451731 2019
25
The ATPase module of mammalian SWI/SNF family complexes mediates subcomplex identity and catalytic activity-independent genomic targeting. 61
30858614 2019
26
CDK4/6 inhibitors target SMARCA4-determined cyclin D1 deficiency in hypercalcemic small cell carcinoma of the ovary. 61
30718512 2019
27
An In-Depth Look at Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT): Clinical Implications from Recent Molecular Findings. 61
30662543 2019
28
Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT): a challenge for clinicopathological diagnosis. 61
31934039 2019
29
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
30
SWI/SNF Complexes in Ovarian Cancer: Mechanistic Insights and Therapeutic Implications. 61
30037854 2018
31
Multimodal molecular analysis of an atypical small cell carcinoma of the ovary, hypercalcemic type. 61
30275002 2018
32
Small Cell Carcinoma of the Ovary, Hypercalcemic Type: Clinical and Imaging Review. 61
28943050 2018
33
SMARCA4-deficient undifferentiated uterine sarcoma (malignant rhabdoid tumor of the uterus): a clinicopathologic entity distinct from undifferentiated carcinoma. 61
29700418 2018
34
Two types of small cell carcinoma of the ovary: Two typical case reports. 61
30094313 2018
35
Immune-Active Microenvironment in Small Cell Carcinoma of the Ovary, Hypercalcemic Type: Rationale for Immune Checkpoint Blockade. 61
29365144 2018
36
Hereditary SWI/SNF complex deficiency syndromes. 61
29397238 2018
37
Ponatinib Shows Potent Antitumor Activity in Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT) through Multikinase Inhibition. 61
29440177 2018
38
Cytological features of small cell carcinoma of the ovary-hypercalcemic type/malignant ovarian rhabdoid tumor in ascitic fluid. 61
29446248 2018
39
Identification of Driver Mutations in Rare Cancers: The Role of SMARCA4 in Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT). 61
29423809 2018
40
Successful treatment of a stage IIIC small-cell carcinoma of the ovary hypercalcemic subtype using multi-modality therapeutic approach. 61
29910829 2018
41
Comprehensive genomic profiling reveals inactivating SMARCA4 mutations and low tumor mutational burden in small cell carcinoma of the ovary, hypercalcemic-type. 61
29102090 2017
42
Rhabdoid Tumor Predisposition Syndrome 61
29215836 2017
43
Association of Li-Fraumeni Syndrome With Small Cell Carcinoma of the Ovary, Hypercalcemic Type and Concurrent Pleomorphic Liposarcoma of the Cervix. 61
28177947 2017
44
SMARCA4 germline gene mutation in a patient with epithelial ovarian: A case report. 61
29204511 2017
45
The hereditary nature of small cell carcinoma of the ovary, hypercalcemic type: two new familial cases. 61
27866340 2017
46
Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome. 61
28620006 2017
47
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
48
Small cell carcinoma of the ovary hypercalcemic type (SCCOHT): A rare case after in vitro fertilization (IVF). 61
28367208 2017
49
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
50
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

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_000546.5(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 COSM113486751 WT1 ovary,NS,carcinoma,small cell carcinoma c.1240A>C p.K414Q 11:32396266-32396266 6
2 COSM91385090 WT1 ovary,NS,carcinoma,small cell carcinoma c.1240A>C p.K414Q 11:32396266-32396266 6
3 COSM100783551 WT1 ovary,NS,carcinoma,small cell carcinoma c.604A>C p.K202Q 11:32396266-32396266 6
4 COSM111540839 WT1 ovary,NS,carcinoma,small cell carcinoma c.1189A>C p.K397Q 11:32396266-32396266 6
5 COSM147428189 WT1 ovary,NS,carcinoma,small cell carcinoma c.1189A>C p.K397Q 11:32396266-32396266 6
6 COSM130520647 WT1 ovary,NS,carcinoma,small cell carcinoma c.553A>C p.K185Q 11:32396266-32396266 6
7 COSM149741943 WT1 ovary,NS,carcinoma,small cell carcinoma c.1240A>C p.K414Q 11:32396266-32396266 6
8 COSM148595596 WT1 ovary,NS,carcinoma,small cell carcinoma c.1240A>C p.K414Q 11:32396266-32396266 6
9 COSM93210112 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.584T>A p.I195N 17:7674947-7674947 6
10 COSM105626718 TP53 ovary,NS,carcinoma,small cell carcinoma c.761T>A p.I254N 17:7674202-7674202 6
11 COSM112265718 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.376-2A>G p.? 17:7675238-7675238 6
12 COSM143944155 TP53 ovary,NS,carcinoma,small cell carcinoma c.367C>T p.R123W 17:7673776-7673776 6
13 COSM121883757 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.379G>T p.D127Y 17:7674188-7674188 6
14 COSM144315359 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.658G>T p.D220Y 17:7674188-7674188 6
15 COSM121876472 TP53 ovary,NS,carcinoma,small cell carcinoma c.448C>T p.R150W 17:7673776-7673776 6
16 COSM143377204 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.658G>T p.D220Y 17:7674188-7674188 6
17 COSM87905712 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.775G>T p.D259Y 17:7674188-7674188 6
18 COSM121890133 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.-23A>G p.? 17:7675238-7675238 6
19 COSM112259562 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.775G>T p.D259Y 17:7674188-7674188 6
20 COSM87929008 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.584T>A p.I195N 17:7674947-7674947 6
21 COSM145017220 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.457C>T p.Q153* 17:7674957-7674957 6
22 COSM144013113 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.491G>A p.R164H 17:7675088-7675088 6
23 COSM106052835 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.574C>T p.Q192* 17:7674957-7674957 6
24 COSM106065581 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.376-2A>G p.? 17:7675238-7675238 6
25 COSM143384685 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.259-2A>G p.? 17:7675238-7675238 6
26 COSM145027383 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.802+1G>T p.? 17:7673700-7673700 6
27 COSM143370507 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.457C>T p.Q153* 17:7674957-7674957 6
28 COSM122760210 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.188T>A p.I63N 17:7674947-7674947 6
29 COSM93193704 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.919+1G>T p.? 17:7673700-7673700 6
30 COSM111758217 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.818G>A p.R273H 17:7673802-7673802 6
31 COSM143381454 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.802+1G>T p.? 17:7673700-7673700 6
32 COSM143167165 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.-104A>G p.? 17:7675238-7675238 6
33 COSM145017326 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.407G>A p.R136H 17:7675088-7675088 6
34 COSM121875437 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.178C>T p.Q60* 17:7674957-7674957 6
35 COSM122271291 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.128G>A p.R43H 17:7675088-7675088 6
36 COSM142841840 TP53 ovary,NS,carcinoma,small cell carcinoma c.761T>A p.I254N 17:7674202-7674202 6
37 COSM144012970 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.541C>T p.Q181* 17:7674957-7674957 6
38 COSM142846634 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.376-2A>G p.? 17:7675238-7675238 6
39 COSM144650676 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.457C>T p.Q153* 17:7674957-7674957 6
40 COSM112253051 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.574C>T p.Q192* 17:7674957-7674957 6
41 COSM112253106 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.818G>A p.R273H 17:7673802-7673802 6
42 COSM143943506 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.97C>T p.Q33* 17:7674957-7674957 6
43 COSM111758876 TP53 ovary,NS,carcinoma,small cell carcinoma c.844C>T p.R282W 17:7673776-7673776 6
44 COSM122739712 TP53 ovary,NS,carcinoma,small cell carcinoma c.365T>A p.I122N 17:7674202-7674202 6
45 COSM143157023 TP53 ovary,NS,carcinoma,small cell carcinoma c.367C>T p.R123W 17:7673776-7673776 6
46 COSM145029876 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.259-2A>G p.? 17:7675238-7675238 6
47 COSM111758247 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.524G>A p.R175H 17:7675088-7675088 6
48 COSM143949177 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.298G>T p.D100Y 17:7674188-7674188 6
49 COSM112259092 TP53 ovary,NS,carcinoma,small cell carcinoma c.761T>A p.I254N 17:7674202-7674202 6
50 COSM121887348 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.523+1G>T p.? 17:7673700-7673700 6

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
11.92 TP53 SMARCD2 SMARCA4 DPF1
2
Show member pathways
10.72 TP53 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 chromatin GO:0000785 9.55 TP53 SMARCD2 SMARCA4 DPF2 DPF1
2 SWI/SNF complex GO:0016514 9.13 SMARCD2 SMARCA4 BICRAL
3 nBAF complex GO:0071565 8.92 SS18L1 SMARCA4 DPF2 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 positive regulation of transcription, DNA-templated GO:0045893 9.73 TP53 SS18L1 SMARCA4 BICRAL
2 negative regulation of transcription, DNA-templated GO:0045892 9.62 TP53 SMARCA4 DPF2 DPF1
3 chromatin organization GO:0006325 9.46 SS18L1 SMARCD2 SMARCA4 DPF2
4 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.4 TP53 SMARCA4
5 ATP-dependent chromatin remodeling GO:0043044 9.37 SMARCD2 SMARCA4
6 apoptotic process GO:0006915 9.35 TP53 DPF2 DPF1 BCL7C BCL7B
7 nucleosome disassembly GO:0006337 9.26 SMARCD2 SMARCA4
8 positive regulation of transcription by RNA polymerase II GO:0045944 9.1 TP53 SS18L1 SMARCD2 SMARCA4 DPF2 DPF1

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 binding GO:0042393 9.33 SMARCA4 DPF2 DPF1
2 nucleosomal DNA binding GO:0031492 9.26 SMARCD2 SMARCA4
3 lysine-acetylated histone binding GO:0070577 8.96 SMARCA4 DPF2
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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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