MCID: MST016
MIFTS: 45

Mesothelioma, Somatic

Categories: Genetic diseases, Rare diseases, Respiratory diseases, Cancer diseases

Aliases & Classifications for Mesothelioma, Somatic

MalaCards integrated aliases for Mesothelioma, Somatic:

Name: Mesothelioma, Somatic 54 13
Malignant Mesothelioma 12 50 52 14 69
Mesothelioma, Malignant 50 71 29 42
Advanced Malignant Mesothelioma 12 69
Pleural Mesothelioma 56 69
Asbestos-Related Malignant Mesothelioma 12
Diffuse Malignant Mesothelioma 12
Malignant Tumor of Mesothelium 12
Malignant Pleural Mesothelioma 69
Mesothelioma Diffuse Malignant 52
Mesothelioma 69
Mesom 71

Characteristics:

Orphanet epidemiological data:

56
pleural mesothelioma
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: any age;

OMIM:

54
Miscellaneous:
may be seen in conjunction with other cancer syndromes (e.g., tdps )
etiologically linked to asbestos

Inheritance:
somatic mutation


Classifications:

Orphanet: 56  
Rare respiratory diseases


External Ids:

OMIM 54 156240
Disease Ontology 12 DOID:1790
SNOMED-CT 64 62064005
Orphanet 56 ORPHA50251
MESH via Orphanet 43 D008654
UMLS via Orphanet 70 C0025500 C0812413 C1377913
ICD10 via Orphanet 34 C45.0
MedGen 40 C0345967
SNOMED-CT via HPO 65 62064005

Summaries for Mesothelioma, Somatic

NIH Rare Diseases : 50 malignant mesothelioma is a form of cancer that develops in the thin layer of tissue that surrounds the lungs, chest wall, or abdomen. signs and symptoms of the condition can vary and often depend on which area of the body is affected. common features include abdominal bloating, abdominal pain, chest pain, coughing, fatigue, shortness of breath, and/or weight loss. malignant mesothelioma is thought to be caused by long-term exposure to asbestos (a fire-resistant material that was once commonly found in insulation; ceiling and roof vinyls; cement; and automotive brake materials). most people appear to be diagnosed with the condition approximately 30 years after being in contact with the asbestos. unfortunately, there is generally no cure for malignant mesothelioma unless it is diagnosed at an early stage and can be surgically removed. if surgery is not an option, chemotherapy and/or radiation therapy may still be recommended to help alleviate some of the associated symptoms. last updated: 11/12/2015

MalaCards based summary : Mesothelioma, Somatic, also known as malignant mesothelioma, is related to lung cancer and colorectal cancer, and has symptoms including malignant mesothelioma, chest pain and dyspnea. An important gene associated with Mesothelioma, Somatic is BCL10 (B-Cell CLL/Lymphoma 10), and among its related pathways/superpathways are Cytoskeletal Signaling and Bladder cancer. The drug Alimta has been mentioned in the context of this disorder. Affiliated tissues include lung, and related phenotypes are cardiovascular system and cellular

UniProtKB/Swiss-Prot : 71 Mesothelioma, malignant: An aggressive neoplasm of the serosal lining of the chest. It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos.

OMIM : 54
Malignant mesothelioma is an aggressive neoplasm of the serosal lining of the chest etiologically linked to asbestos. It is diagnosed in approximately 2,000 to 3,000 individuals annually in the United States, most of whom die within 2 years of diagnosis (summary by Bott et al., 2011). See also 614327 for a tumor predisposition syndrome that may contribute to the development of malignant mesothelioma upon asbestos exposure and is caused by germline mutation in the BAP1 gene (603089) on chromosome 3p21. (156240)

Disease Ontology : 12 A cell type cancer that has material basis in mesothelial tissue.

Related Diseases for Mesothelioma, Somatic

Diseases related to Mesothelioma, Somatic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 191)
id Related Disease Score Top Affiliating Genes
1 lung cancer 28.1 CDH1 CDH2 CDKN2A CEACAM5 KRT20 MCL1
2 colorectal cancer 27.1 BCL10 CDH1 CDKN2A CEACAM3 CEACAM5 KRT20
3 ovarian malignant mesothelioma 11.9
4 malignant peritoneal mesothelioma 11.4
5 malignant pleural mesothelioma 11.3
6 tumor predisposition syndrome 11.1
7 peritoneal mesothelioma 11.0
8 pulmonary artery choriocarcinoma 11.0 CDKN2A WT1
9 7p22.1 microduplication syndrome 10.9 CALB2 CDH1
10 spinal cord primitive neuroectodermal neoplasm 10.9 CDH1 NF2
11 thymus lipoma 10.9 CALB2 WT1
12 renal pelvis urothelial papilloma 10.9 CDH1 NF2
13 exotropia 10.9 MUC1 WT1
14 periosteal osteogenic sarcoma 10.9 KRT20 NKX2-1
15 pericardial mesothelioma 10.8
16 myeloid/lymphoid neoplasm associated with pdgfra rearrangement 10.8 CDKN2A MUC1 NF2
17 gallbladder pleomorphic giant cell adenocarcinoma 10.8 MUC1 NF2
18 pleural empyema 10.8 MUC1 NF2 NKX2-1
19 testis seminoma 10.8 CALB2 CDKN2A
20 iris spindle cell melanoma 10.8 CALB2 MUC1
21 small intestine cancer, childhood 10.8 KRT20 NKX2-1
22 fibrous meningioma 10.8 CDKN2A WT1
23 dextrocardia with situs inversus 10.8 MUC1 THBD WT1
24 kidney hypertrophy 10.8 CDKN2A MUC1 NF2
25 rhinosporidiosis 10.8 KRT20 MUC1
26 cerebrum cancer 10.8 MUC1 SPP1 WT1
27 angioma serpiginosum 10.8 CDH1 KRT20
28 ovary neuroendocrine neoplasm 10.7 CALB2 MUC1 WT1
29 papillary meningioma of the cerebellum 10.7 PDPN WT1
30 pancreatic ductal carcinoma 10.7 CALB2 MUC1 WT1
31 spastic ataxia 3 10.7 CDKN2A KRT20 MUC1
32 lung squamous cell carcinoma 10.7 CEACAM5 MUC1
33 choriocarcinoma 10.7 CDKN2A KRT20 MUC1
34 follicular basal cell carcinoma 10.7 CDH1 KRT20
35 fallopian tube leiomyosarcoma 10.7 CDH1 CDKN2A MUC1
36 cervical adenosquamous carcinoma 10.7 CDKN2A NF2
37 cribriform carcinoma 10.7 CDH1 KRT20 MUC1
38 situs inversus totalis with cystic dysplasia of kidneys and pancreas 10.7 CEACAM3 MUC1
39 ampulla of vater squamous cell carcinoma 10.7 CDH1 KRT20
40 bile duct mucoepidermoid carcinoma 10.7 CEACAM5 MUC1
41 tracheal disease 10.7 CDH1 CDH2 CDKN2A
42 pancreatic signet ring cell adenocarcinoma 10.7 CDH1 KRT20 MUC1
43 estrogen-receptor negative breast cancer 10.7 CDH1 CDKN2A MUC1
44 integumentary system cancer 10.7 CDH1 CDKN2A RASSF1
45 extrinsic cardiomyopathy 10.7 KRT20 MUC1 NKX2-1
46 bladder urachal squamous cell carcinoma 10.7 CDKN2A MUC1 NF2
47 ectodermal dysplasia, ectrodactyly, and macular dystrophy 10.7 CDH1 CDH2
48 noninvasive malignant thymoma 10.7 MUC1 NF2
49 benign pleural mesothelioma 10.7 CDKN2A NF2 PDPN
50 gingival hypertrophy 10.7 CEACAM5 WT1

Graphical network of the top 20 diseases related to Mesothelioma, Somatic:



Diseases related to Mesothelioma, Somatic

Symptoms & Phenotypes for Mesothelioma, Somatic

Symptoms via clinical synopsis from OMIM:

54

Neoplasia:
mesothelioma

Respiratory- Lung:
mesothelioma, malignant


Clinical features from OMIM:

156240

Human phenotypes related to Mesothelioma, Somatic:

32
id Description HPO Frequency HPO Source Accession
1 malignant mesothelioma 32 HP:0100001

UMLS symptoms related to Mesothelioma, Somatic:


chest pain, dyspnea, fatigue, chills, malaise

MGI Mouse Phenotypes related to Mesothelioma, Somatic:

44 (show all 12)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.25 THBD TNFSF10 WT1 CDH1 CDH2 CDKN2A
2 cellular MP:0005384 10.24 BCL10 CDH1 CDH2 CDKN2A MCL1 MET
3 homeostasis/metabolism MP:0005376 10.18 CDH2 CDKN2A WT1 MET NF2 NKX2-1
4 immune system MP:0005387 10.15 BCL10 CDH1 CDKN2A MCL1 MET NF2
5 endocrine/exocrine gland MP:0005379 10.13 BCL10 CDH1 CDKN2A MCL1 MET NF2
6 embryo MP:0005380 10.11 BCL10 CDH1 CDH2 CDKN2A MCL1 MET
7 mortality/aging MP:0010768 10.1 BCL10 CDH1 CDH2 CDKN2A MCL1 MET
8 digestive/alimentary MP:0005381 10.02 CDH1 CDKN2A MET NKX2-1 PDPN RASSF1
9 liver/biliary system MP:0005370 9.92 CDKN2A MET NF2 RASSF1 SPP1 THBD
10 neoplasm MP:0002006 9.81 CDH1 CDKN2A MET NF2 NKX2-1 RASSF1
11 normal MP:0002873 9.61 CALB2 CDH1 MCL1 MET MSLN NKX2-1
12 respiratory system MP:0005388 9.23 MET NF2 NKX2-1 PDPN SPP1 THBD

Drugs & Therapeutics for Mesothelioma, Somatic

FDA approved drugs:

id Drug Name Active Ingredient(s) 17 Company Approval Date
1
Alimta 17 46 PEMETREXED (also Pemetrexed Disodium) Eli Lilly February 2004

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Clinical and Histopathologic Characteristics of BAP1 Mutations Recruiting NCT01773655

Search NIH Clinical Center for Mesothelioma, Somatic

Cochrane evidence based reviews: mesothelioma, malignant

Genetic Tests for Mesothelioma, Somatic

Genetic tests related to Mesothelioma, Somatic:

id Genetic test Affiliating Genes
1 Mesothelioma, Malignant 29

Anatomical Context for Mesothelioma, Somatic

MalaCards organs/tissues related to Mesothelioma, Somatic:

39
Lung

Publications for Mesothelioma, Somatic

Variations for Mesothelioma, Somatic

ClinVar genetic disease variations for Mesothelioma, Somatic:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 WT1 NM_024426.4(WT1): c.1021A> G (p.Ser341Gly) single nucleotide variant Pathogenic rs121907908 GRCh37 Chromosome 11, 32421571: 32421571
2 BCL10 NM_003921.4(BCL10): c.499_500insT (p.Ser167Phefs) insertion Pathogenic rs387906350 GRCh37 Chromosome 1, 85733513: 85733513
3 BCL10 NM_003921.4(BCL10): c.136delA (p.Ile46Tyrfs) deletion Pathogenic rs587776639 GRCh37 Chromosome 1, 85736511: 85736511

Copy number variations for Mesothelioma, Somatic from CNVD:

7 (show all 35)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13405 1 1 2300000 Loss Malignant mesothelioma
2 21838 1 16200000 28000000 Loss Malignant mesothelioma
3 33950 1 50700000 61300000 Amplification Malignant mesothelioma
4 35952 1 69700000 116100000 Loss Malignant mesothelioma
5 35954 1 69700000 116100000 Loss CLCA1 Malignant mesothelioma
6 35956 1 69700000 116100000 Loss CLCA2 Malignant mesothelioma
7 35958 1 69700000 116100000 Loss CLCA3 Malignant mesothelioma
8 35960 1 69700000 116100000 Loss CLCA4 Malignant mesothelioma
9 35962 1 69700000 116100000 Loss COL11A1 Malignant mesothelioma
10 35964 1 69700000 116100000 Loss TGFBR3 Malignant mesothelioma
11 35966 1 69700000 120600000 Loss Malignant mesothelioma
12 37056 1 84900000 107200000 Loss Malignant mesothelioma
13 69952 12 56600000 58100000 Gain Malignant mesothelioma
14 75172 13 17900000 45800000 Loss BRCA2 Malignant mesothelioma
15 85738 14 50900000 107349540 Loss CCNK Malignant mesothelioma
16 85740 14 50900000 107349540 Loss CDKN3 Malignant mesothelioma
17 113645 17 44900000 81195210 Gain ERN1 Malignant mesothelioma
18 113647 17 44900000 81195210 Gain MAP3K3 Malignant mesothelioma
19 113649 17 44900000 81195210 Gain PRKCA Malignant mesothelioma
20 113651 17 44900000 81195210 Gain SMARCD2 Malignant mesothelioma
21 175422 3 39400000 63700000 Loss CACNA2D3 Malignant mesothelioma
22 175424 3 39400000 63700000 Loss CTNNB1 Malignant mesothelioma
23 175426 3 39400000 63700000 Loss MLH1 Malignant mesothelioma
24 175771 3 44100000 44200000 Loss Malignant mesothelioma
25 187512 4 50400000 191154276 Loss Malignant mesothelioma
26 191705 5 1 48400000 Gain Malignant mesothelioma
27 204729 6 114600000 118300000 Loss HDAC2 Malignant mesothelioma
28 204731 6 114600000 118300000 Loss MARCKS Malignant mesothelioma
29 217075 7 1 4500000 Gain Malignant mesothelioma
30 234871 8 139900000 146364022 Gain Malignant mesothelioma
31 250026 9 19900000 25600000 Loss C9orf14 Malignant mesothelioma
32 250029 9 19900000 25600000 Loss CDKN2A Malignant mesothelioma
33 250031 9 19900000 25600000 Loss CDKN2B Malignant mesothelioma
34 250069 9 19900000 33200000 Loss Malignant mesothelioma
35 251883 9 33200000 36300000 Gain Malignant mesothelioma

Expression for Mesothelioma, Somatic

Search GEO for disease gene expression data for Mesothelioma, Somatic.

Pathways for Mesothelioma, Somatic

Pathways related to Mesothelioma, Somatic according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 12.04 CDH1 KRT20 MUC1 NF2 PDPN
2 11.41 CDH1 CDKN2A RASSF1
3 11.21 CDKN2A MCL1 TNFSF10
4 11.06 CDH1 CDH2 CEACAM5 MSLN MUC1
5 11.03 CDH1 CDH2 MET
6 10.93 CDH1 CDH2 MET SPP1

GO Terms for Mesothelioma, Somatic

Cellular components related to Mesothelioma, Somatic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lamellipodium GO:0030027 9.26 CDH1 CDH2 NF2 PDPN
2 catenin complex GO:0016342 9.16 CDH1 CDH2
3 cortical actin cytoskeleton GO:0030864 8.8 CDH1 CDH2 NF2

Biological processes related to Mesothelioma, Somatic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 negative regulation of anoikis GO:2000811 9.26 CEACAM5 MCL1
2 negative regulation of cell-cell adhesion GO:0022408 9.16 CDH1 NF2
3 positive regulation of transcription, DNA-templated GO:0045893 9.1 BCL10 CDH1 CDKN2A NKX2-1 SPP1 WT1
4 entry of bacterium into host cell GO:0035635 8.96 CDH1 MET

Molecular functions related to Mesothelioma, Somatic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.89 BCL10 CDH1 CDH2 CDKN2A KRT20 MCL1
2 gamma-catenin binding GO:0045295 8.62 CDH1 CDH2

Sources for Mesothelioma, Somatic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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