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 systemic mastocytosis. An important gene associated with Mast Cell Neoplasm is KIT (KIT Proto-Oncogene Receptor Tyrosine Kinase), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and Phospholipase-C Pathway. 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 37)
# Related Disease Score Top Affiliating Genes
1 cutaneous mastocytosis 31.3 CMA1 CTSG KIT KITLG
2 systemic mastocytosis 30.2 HDC KIT KITLG
3 urticaria pigmentosa 30.2 CMA1 KIT KITLG
4 cutaneous mastocytoma 12.5
5 extracutaneous mastocytoma 11.1
6 intra-abdominal lymph node mast cell malignancy 11.1
7 mast-cell sarcoma 11.0
8 aggressive systemic mastocytosis 10.7 KIT KITLG
9 ewing's family of tumors 10.5 KIT KITLG
10 dowling-degos disease 1 10.5 KIT KITLG
11 chronic conjunctivitis 10.5 CMA1 PTGER3
12 hypereosinophilic syndrome, idiopathic 10.4 IL3 KIT
13 maxillary sinus adenoid cystic carcinoma 10.4 IL2 KIT
14 indolent systemic mastocytosis 10.4 HDC KIT KITLG
15 ocular melanoma 10.4 IL2 KIT
16 cutaneous solitary mastocytoma 10.4 CMA1 KIT KITLG
17 amelanotic melanoma 10.3 CTSG KIT
18 papillon-lefevre syndrome 10.2 CTSC CTSG
19 congenital mesoblastic nephroma 10.1 KIT NTRK3
20 polycythemia vera 10.1 IL3 KIT KITLG
21 atopic keratoconjunctivitis 10.1 IL2 IL3
22 bone marrow cancer 10.1 IL3 KIT KITLG
23 exanthema subitum 10.1 IL2 KITLG
24 anemia of prematurity 10.0 IL3 KITLG
25 mast-cell leukemia 10.0 KIT KITLG NTRK3
26 polymorphous low-grade adenocarcinoma 10.0 KIT NTRK3
27 leukemia, chronic myeloid 9.9 IL3 KIT KITLG
28 gastrointestinal stromal tumor 9.9 KIT KITLG NTRK3
29 leukemia 9.7
30 urticaria 9.7
31 maculopapular cutaneous mastocytosis 9.7
32 leukocyte disease 9.6 IL2 IL3 KIT KITLG
33 hematologic cancer 9.5 IL2 IL3 KIT KITLG
34 leukemia, acute myeloid 9.5 IL2 IL3 KIT KITLG
35 bone fracture 9.4 IL2 IL3
36 aplastic anemia 9.4 IL2 IL3 KITLG PRF1
37 lymphoma, non-hodgkin, familial 9.2 IL2 IL3 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:

26 (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 CTSC KIT
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 KIT NTRK3 CTSC GCNT2
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 KIT NTRK3
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 CTSC GCNT2 HDC IL2 KIT NTRK3
2 hematopoietic system MP:0005397 9.97 CMA1 CTSC CTSG GCNT2 HDC IL2
3 cardiovascular system MP:0005385 9.91 IL2 KIT KITLG NTRK3 PRF1 PTGER3
4 homeostasis/metabolism MP:0005376 9.91 PTGER3 TPH1 CTSC GCNT2 HDC IL2
5 immune system MP:0005387 9.85 CMA1 CTSC CTSG GCNT2 HDC IL2
6 integument MP:0010771 9.56 PRF1 PTGER3 TPH1 CTSC GCNT2 HDC
7 neoplasm MP:0002006 9.02 CTSG IL2 KIT KITLG 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 Not Applicable

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
Clustering of activating mutations in c-KIT's juxtamembrane coding region in canine mast cell neoplasms. ( 9989791 )
1999
4
Systemic mastocytosis and other mast cell neoplasms. ( 10444157 )
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 heterogeneity in a transplantable mast-cell neoplasm. ( 14472640 )
1961
8
Biochemical and morphologic changes in a mast-cell neoplasm during treatment with cyclophosphamide. ( 14472639 )
1961
9
Biologic studies on the development of DON resistance in a mast-cell neoplasm of the mouse. ( 14434476 )
1959
10
Biologic studies on the development of DON resistance in a mast-cell neoplasm of the mouse. ( 13673276 )
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 region GO:0005576 9.5 CMA1 CTSC CTSG IL2 IL3 KITLG
2 extracellular space GO:0005615 9.17 CMA1 CTSC CTSG IL2 IL3 KIT

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.81 IL2 KIT KITLG NTRK3
2 positive regulation of cell migration GO:0030335 9.67 GCNT2 KIT NTRK3
3 MAPK cascade GO:0000165 9.67 IL2 IL3 KIT KITLG
4 peptidyl-tyrosine phosphorylation GO:0018108 9.63 IL3 KIT NTRK3
5 positive regulation of protein kinase B signaling GO:0051897 9.61 GCNT2 KIT KITLG
6 immune response GO:0006955 9.55 CMA1 CTSC CTSG IL2 IL3
7 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.48 IL2 KITLG
8 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.43 IL2 IL3 KIT
9 positive regulation of cell proliferation GO:0008284 9.43 GCNT2 IL2 IL3 KIT KITLG NTRK3
10 angiotensin maturation GO:0002003 9.4 CMA1 CTSG
11 ectopic germ cell programmed cell death GO:0035234 9.32 KIT KITLG
12 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 cytokine activity GO:0005125 9.43 IL2 IL3 KITLG
2 protein tyrosine kinase activity GO:0004713 9.33 IL3 KIT NTRK3
3 growth factor activity GO:0008083 9.13 IL2 IL3 KITLG
4 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
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
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