MCID: MST004
MIFTS: 37

Mast Cell Neoplasm

Categories: Cancer diseases, Immune diseases

Aliases & Classifications for Mast Cell Neoplasm

Summaries for Mast Cell Neoplasm

Disease Ontology : 12 A hematologic cancer that has material basis in mast cells.

MalaCards based summary : Mast Cell Neoplasm, also known as mastocytoma, is related to cutaneous mastocytosis and urticaria pigmentosa. An important gene associated with Mast Cell Neoplasm is KIT (KIT Proto-Oncogene Receptor Tyrosine Kinase), and among its related pathways/superpathways are Phospholipase-C Pathway and p70S6K Signaling. Related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Mast Cell Neoplasm

Diseases related to Mast Cell Neoplasm via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 cutaneous mastocytosis 31.4 CMA1 CTSG KIT KITLG
2 urticaria pigmentosa 29.9 CMA1 KIT KITLG
3 systemic mastocytosis 29.9 HDC KIT KITLG
4 extracutaneous mastocytoma 11.1
5 intra-abdominal lymph node mast cell malignancy 11.1
6 aggressive systemic mastocytosis 10.4 KIT KITLG
7 ewing's family of tumors 10.3 KIT KITLG
8 chronic conjunctivitis 10.3 CMA1 PTGER3
9 hypereosinophilic syndrome, idiopathic 10.3 IL3 KIT
10 maxillary sinus adenoid cystic carcinoma 10.3 IL2 KIT
11 indolent systemic mastocytosis 10.3 HDC KIT KITLG
12 dowling-degos disease 1 10.3 KIT KITLG
13 ocular melanoma 10.2 IL2 KIT
14 cutaneous solitary mastocytoma 10.2 CMA1 KIT KITLG
15 mucosal melanoma 10.2 IL2 KIT
16 papillon-lefevre syndrome 10.1 CTSC CTSG
17 bone marrow cancer 10.1 IL3 KIT KITLG
18 polycythemia vera 10.1 IL3 KIT KITLG
19 atopic keratoconjunctivitis 10.1 IL2 IL3
20 congenital mesoblastic nephroma 10.0 KIT NTRK3
21 leukemia, chronic myeloid 10.0 IL3 KIT KITLG
22 mast-cell leukemia 10.0 KIT KITLG NTRK3
23 exanthema subitum 10.0 IL2 KITLG
24 gastrointestinal stromal tumor 9.9 KIT KITLG NTRK3
25 polymorphous low-grade adenocarcinoma 9.9 KIT NTRK3
26 anemia of prematurity 9.8 IL3 KITLG
27 leukocyte disease 9.7 IL2 IL3 KIT KITLG
28 hematologic cancer 9.7 IL2 IL3 KIT KITLG
29 leukemia 9.7
30 urticaria 9.7
31 leukemia, acute myeloid 9.7 IL2 IL3 KIT KITLG
32 lymphoma, non-hodgkin, familial 9.6 IL2 IL3 PRF1
33 aplastic anemia 9.6 IL2 IL3 KITLG PRF1

Graphical network of the top 20 diseases related to Mast Cell Neoplasm:



Diseases related to Mast Cell Neoplasm

Symptoms & Phenotypes for Mast Cell Neoplasm

GenomeRNAi Phenotypes related to Mast Cell Neoplasm according to GeneCards Suite gene sharing:

25 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10.04 KIT
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.04 CTSC
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.04 CTSC
4 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.04 NTRK3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.04 NTRK3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.04 GCNT2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.04 CTSC
8 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.04 NTRK3 KIT
9 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.04 KIT
10 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.04 CTSC
11 Increased shRNA abundance (Z-score > 2) GR00366-A-170 10.04 KIT
12 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.04 GCNT2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.04 CTSC
14 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.04 NTRK3 KIT CTSC
15 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.04 NTRK3
16 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.04 GCNT2 NTRK3 KIT CTSC
17 Increased shRNA abundance (Z-score > 2) GR00366-A-56 10.04 GCNT2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.04 CTSC
19 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.04 NTRK3 KIT
20 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.04 KIT
21 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.04 KIT

MGI Mouse Phenotypes related to Mast Cell Neoplasm:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 HDC TPH1 IL2 KIT CTSC NTRK3
2 hematopoietic system MP:0005397 9.97 HDC IL2 KIT CMA1 CTSC KITLG
3 homeostasis/metabolism MP:0005376 9.91 PTGER3 HDC TPH1 IL2 KIT CTSC
4 immune system MP:0005387 9.85 IL2 KIT CMA1 CTSC KITLG CTSG
5 integument MP:0010771 9.56 TPH1 KIT CTSC KITLG PRF1 GCNT2
6 neoplasm MP:0002006 9.02 IL2 KIT KITLG CTSG PRF1

Drugs & Therapeutics for Mast Cell Neoplasm

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 3 Study to Compare Efficacy and Safety of Masitinib to Placebo in the Treatment of Patients With Smouldering Systemic, Indolent Systemic or Cutaneous Mastocytosis With Handicap Unknown status NCT00814073 Phase 3 masitinib (AB1010);placebo
2 Efficacy and Safety of TF002 in Cutaneous Mastocytosis Completed NCT00457288 Phase 2 TF 002
3 Natural History of Urticaria Pigmentosa in Children Completed NCT00467792
4 Cutaneous Mastocytosis in Children: Analysis of Somatic and Germline Mutations Recruiting NCT02761473
5 Evaluation of Patient Satisfaction With and Acceptance of Their Totally-implanted Central Venous Catheter Terminated NCT01616537

Search NIH Clinical Center for Mast Cell Neoplasm

Genetic Tests for Mast Cell Neoplasm

Anatomical Context for Mast Cell Neoplasm

Publications for Mast Cell Neoplasm

Articles related to Mast Cell Neoplasm:

(show all 11)
# Title Authors Year
1
KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis. ( 25650093 )
2015
2
On the way to targeted therapy of mast cell neoplasms: identification of molecular targets in neoplastic mast cells and evaluation of arising treatment concepts. ( 15291805 )
2004
3
Systemic mastocytosis and other mast cell neoplasms. ( 10444157 )
1999
4
Clustering of activating mutations in c-KIT's juxtamembrane coding region in canine mast cell neoplasms. ( 9989791 )
1999
5
Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm. ( 8589724 )
1996
6
The occurrence of a bilateral mandibular mast cell neoplasm in a mouse with lymphocytic leukemia. ( 117221 )
1979
7
Biochemical and morphologic changes in a mast-cell neoplasm during treatment with cyclophosphamide. ( 14472639 )
1961
8
Biochemical and morphologic heterogeneity in a transplantable mast-cell neoplasm. ( 14472640 )
1961
9
Biologic studies on the development of DON resistance in a mast-cell neoplasm of the mouse. ( 13673276 )
1959
10
Biologic studies on the development of DON resistance in a mast-cell neoplasm of the mouse. ( 14434476 )
1959
11
A transplantable mast-cell neoplasm in the mouse. ( 13416911 )
1957

Variations for Mast Cell Neoplasm

Expression for Mast Cell Neoplasm

Search GEO for disease gene expression data for Mast Cell Neoplasm.

Pathways for Mast Cell Neoplasm

GO Terms for Mast Cell Neoplasm

Cellular components related to Mast Cell Neoplasm according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.43 CTSC CTSG IL2 IL3 KIT KITLG
2 extracellular region GO:0005576 9.17 CMA1 CTSC CTSG IL2 IL3 KITLG

Biological processes related to Mast Cell Neoplasm according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.76 CTSC CTSG IL2 IL3
2 positive regulation of cell migration GO:0030335 9.67 GCNT2 KIT NTRK3
3 MAPK cascade GO:0000165 9.62 IL2 IL3 KIT KITLG
4 peptidyl-tyrosine phosphorylation GO:0018108 9.61 IL3 KIT NTRK3
5 positive regulation of protein kinase B signaling GO:0051897 9.58 GCNT2 KIT KITLG
6 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.48 IL2 KITLG
7 positive regulation of cell proliferation GO:0008284 9.43 GCNT2 IL2 IL3 KIT KITLG NTRK3
8 angiotensin maturation GO:0002003 9.37 CMA1 CTSG
9 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.33 IL2 IL3 KIT
10 ectopic germ cell programmed cell death GO:0035234 9.26 KIT KITLG
11 embryonic hemopoiesis GO:0035162 8.8 IL3 KIT KITLG

Molecular functions related to Mast Cell Neoplasm according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.33 IL2 IL3 KITLG
2 protein tyrosine kinase activity GO:0004713 9.13 IL3 KIT NTRK3
3 Ras guanyl-nucleotide exchange factor activity GO:0005088 8.92 IL2 IL3 KIT KITLG

Sources for Mast Cell Neoplasm

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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