MCID: MST004
MIFTS: 41

Mast Cell Neoplasm

Categories: Blood diseases, Cancer diseases

Aliases & Classifications for Mast Cell Neoplasm

MalaCards integrated aliases for Mast Cell Neoplasm:

Name: Mast Cell Neoplasm 12 15 17 70
Mastocytoma 12 54 70
Mast Cell Proliferative Disease 12
Benign Mastocytoma 70
Mast Cell Tumor 12

Classifications:



External Ids:

Disease Ontology 12 DOID:3664
NCIt 50 C9295
SNOMED-CT 67 127581004
ICD10 32 D47.09
UMLS 70 C0024897 C0334664 C2242987

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 extracutaneous mastocytoma and mast-cell sarcoma. An important gene associated with Mast Cell Neoplasm is KIT (KIT Proto-Oncogene, Receptor Tyrosine Kinase), and among its related pathways/superpathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Affiliated tissues include t cells, skin and bone marrow, and related phenotypes are hematopoietic system and immune system

Related Diseases for Mast Cell Neoplasm

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

(show top 50) (show all 241)
# Related Disease Score Top Affiliating Genes
1 extracutaneous mastocytoma 32.4 U2AF1 KITLG KIT
2 mast-cell sarcoma 32.3 KITLG KIT CMA1
3 cutaneous solitary mastocytoma 32.3 SERPINA3 KITLG KIT CMA1
4 mastocytosis, cutaneous 31.9 SERPINA3 KITLG KIT IL3 CMA1 ATP7A
5 systemic mastocytosis 30.5 KITLG KIT HDC
6 mast-cell leukemia 30.3 U2AF1 KITLG KIT ATP7A
7 mastocytosis 30.2 KITLG KIT IL3 HDC FLT3
8 myeloid sarcoma 30.2 U2AF1 KIT FLT3
9 severe combined immunodeficiency 30.0 KITLG KIT IL3 FLT3
10 aggressive systemic mastocytosis 29.9 U2AF1 KITLG KIT FLT3 CMA1 ATP7A
11 allergic disease 29.8 IL3 ICOSLG CTLA4 CD80
12 dermatitis, atopic 29.7 SERPINA3 KITLG ICOSLG CTLA4 CMA1
13 leukemia, chronic myeloid 29.6 U2AF1 KITLG KIT IL3 H2AC18 FLT3
14 skin disease 29.5 U2AF1 SERPINA3 KIT ITGAL ICOSLG H2AC18
15 deficiency anemia 29.1 U2AF1 SERPINA3 KITLG KIT IL3 ICOSLG
16 leukemia, acute myeloid 28.9 U2AF1 SERPINA3 PRF1 KITLG KIT IL3
17 cutaneous mastocytoma 11.7
18 benign mastocytoma 11.2
19 acute myeloid leukemia with t(8;21)(q22;q22) translocation 10.4 KIT FLT3
20 acute myeloblastic leukemia with maturation 10.4 KIT FLT3
21 sm-ahnmd 10.4 U2AF1 KITLG KIT
22 phenytoin allergy 10.4 PRF1 IL3 CMA1
23 hypereosinophilic syndrome, idiopathic 10.4 KIT IL3
24 dysgerminoma of ovary 10.3 KITLG KIT
25 type c thymoma 10.3 SERPINA3 KIT
26 myelodysplastic/myeloproliferative neoplasm 10.3 U2AF1 KIT FLT3
27 neutrophilia, hereditary 10.3 U2AF1 IL3 FLT3
28 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 10.3 KIT FLT3
29 chronic eosinophilic leukemia 10.3 U2AF1 KIT FLT3
30 lung leiomyosarcoma 10.3 KITLG KIT
31 lethal midline granuloma 10.3 SERPINA3 PRF1
32 breast malignant phyllodes tumor 10.3 SERPINA3 KIT
33 mixed cell type cancer 10.3 SERPINA3 KIT H2AC18
34 connective tissue benign neoplasm 10.3 SERPINA3 KIT H2AC18
35 synovium cancer 10.3 SERPINA3 KIT H2AC18
36 tonsil cancer 10.3 SERPINA3 KIT H2AC18
37 polycythemia vera 10.3 U2AF1 KITLG KIT IL3
38 leukemia, acute monocytic 10.2 U2AF1 H2AC18 FLT3
39 severe cutaneous adverse reaction 10.2 PTGER3 PRF1 CTLA4
40 oropharynx cancer 10.2 SERPINA3 KIT H2AC18
41 acute megakaryocytic leukemia 10.2 U2AF1 KIT IL3 FLT3
42 skeletal muscle cancer 10.2 SERPINA3 KIT H2AC18
43 muscle cancer 10.2 SERPINA3 KIT H2AC18
44 myeloid and lymphoid neoplasms associated with fgfr1 abnormalities 10.2 IL3 FLT3
45 autoimmune disease of urogenital tract 10.2 ICOSLG H2AC18 FCGR2B
46 amelanotic melanoma 10.2 SERPINA3 KIT CTSG
47 neutropenia 10.2 KITLG ITGAL IL3 FLT3
48 listeriosis 10.2 PRF1 ICOSLG H2AC18
49 coccidiosis 10.2 PRF1 ICOSLG H2AC18
50 mental depression 10.2 TPH1 SERPINA3 H2AC18

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



Diseases related to Mast Cell Neoplasm

Symptoms & Phenotypes for Mast Cell Neoplasm

MGI Mouse Phenotypes related to Mast Cell Neoplasm:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.97 ATP7A CD80 CMA1 CTLA4 CTSC CTSG
2 immune system MP:0005387 9.8 ATP7A CD80 CMA1 CTLA4 CTSC CTSG
3 integument MP:0010771 9.32 ATP7A CTLA4 CTSC HDC KIT KITLG

Drugs & Therapeutics for Mast Cell Neoplasm

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of TF002 in Cutaneous Mastocytosis Completed NCT00457288 Phase 2 TF 002
2 Adaptation of the Questionnaire "Regarding Patient's Quality of Life With Mastocytosis" in the French Language Completed NCT03632811
3 Cutaneous Mastocytosis in Children: Analysis of Somatic and Germline Mutations Completed NCT02761473
4 Evaluation of the Improvement of Pigmented Skin Lesions in Patients With Mastocytosis After Performing 2 Sessions of Pigment Laser : Pilot Study Conducted at a Reference Centre Mastocytoses (LaserMasto) Recruiting NCT04377828
5 Evaluation of Patient Satisfaction With and Acceptance of Their Totally-implanted Central Venous Catheter: Confirmatory Validation of QASICC Questionnaire Terminated NCT01616537

Search NIH Clinical Center for Mast Cell Neoplasm

Genetic Tests for Mast Cell Neoplasm

Anatomical Context for Mast Cell Neoplasm

MalaCards organs/tissues related to Mast Cell Neoplasm:

40
T Cells, Skin, Bone Marrow, Thymus, Spleen, Endothelial, Smooth Muscle

Publications for Mast Cell Neoplasm

Articles related to Mast Cell Neoplasm:

(show top 50) (show all 1793)
# Title Authors PMID Year
1
Histiocyte-rich pleomorphic mastocytoma: an uncommon variant mimicking juvenile xanthogranuloma and Langerhans cell histiocytosis. 54 61
19602070 2009
2
Solitary mastocytoma occurring at a site of trauma. 61 54
19397569 2009
3
Stobadine inhibits doxorubicin-induced apoptosis through a caspase-9 dependent pathway in P815 mastocytoma cells. 54 61
17481927 2007
4
Activation of histidine decarboxylase through post-translational cleavage by caspase-9 in a mouse mastocytoma P-815. 61 54
17360717 2007
5
Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation. 61 54
17259998 2007
6
Expression of c-kit proto-oncogene in canine mastocytoma: a kinetic study using real-time polymerase chain reaction. 61 54
16921872 2006
7
Establishment of a murine model of aggressive systemic mastocytosis/mast cell leukemia. 54 61
16543062 2006
8
Tryptophan hydroxylase expression in human skin cells. 61 54
14559114 2003
9
[Cooperation of two subtypes of PGE2 receptor, Gi coupled EP3 and Gs coupled EP2 or EP4 subtype]. 54 61
14577329 2003
10
Exposure to paclitaxel or vinblastine down-regulates CD11a and CD54 expression by P815 mastocytoma cells and renders the tumor cells resistant to killing by nonspecific cytotoxic T lymphocytes induced with anti-CD3 antibody. 61 54
12649748 2003
11
Proteasome-driven turnover of tryptophan hydroxylase is triggered by phosphorylation in RBL2H3 cells, a serotonin producing mast cell line. 54 61
12354109 2002
12
Cell surface expression of calnexin, a molecular chaperone in the endoplasmic reticulum. 54 61
10956670 2000
13
Colocalization of leukotriene C synthase and microsomal glutathione S-transferase elucidated by indirect immunofluorescence analysis. 61 54
11034337 2000
14
Expression of the CD80 and CD86 molecules enhances cytotoxicity by human natural killer cells. 61 54
10980383 2000
15
KIT expression in angiosarcomas and fetal endothelial cells: lack of mutations of exon 11 and exon 17 of C-kit. 61 54
10824925 2000
16
Canine mast cell tumors express stem cell factor receptor. 61 54
10698217 2000
17
Augmentation of CTLA-4 expression by wortmannin: involvement of lysosomal sorting properties of CTLA-4. 54 61
10464177 1999
18
Immunohistochemical localization of tryptophan hydroxylase in the human and rat gastrointestinal tracts. 61 54
10421874 1999
19
Spontaneous canine mast cell tumors express tandem duplications in the proto-oncogene c-kit. 61 54
10210327 1999
20
Regulated expression, processing, and secretion of dog mast cell dipeptidyl peptidase I. 54 61
9624139 1998
21
In vivo differentiation of mast cells from acute myeloid leukemia blasts carrying a novel activating ligand-independent C-kit mutation. 61 54
9714703 1998
22
Benzamidine-sensitive proteinase in activated cleavage of recombinant 74 kDa histidine decarboxylase into its 53 kDa form in mastocytoma cells. 54 61
9561410 1998
23
Dog mast cell alpha-chymase activates progelatinase B by cleaving the Phe88-Gln89 and Phe91-Glu92 bonds of the catalytic domain. 61 54
9325284 1997
24
Mechanisms of constitutive activation of c-kit receptor tyrosine kinase. 54 61
9209403 1997
25
Identification of the biosynthetic leukotriene C4 export pump in murine mastocytoma cells as a homolog of the multidrug-resistance protein. 54 61
8973633 1996
26
Identification, molecular cloning, biologic properties, and tissue distribution of a novel isoform of murine low-affinity IgG receptor homologous to human Fc gamma RIIB1. 54 61
8683114 1996
27
Regulation of CTLA-4 expression during T cell activation. 61 54
8666782 1996
28
Authentic 17 kDa tumour necrosis factor alpha is synthesized and released by canine mast cells and up-regulated by stem cell factor. 61 54
8809429 1996
29
Dog mastocytoma cells secrete a 92-kD gelatinase activated extracellularly by mast cell chymase. 54 61
8601622 1996
30
Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm. 61 54
8589724 1996
31
Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder. 61 54
7479840 1995
32
Substitution of an aspartic acid results in constitutive activation of c-kit receptor tyrosine kinase in a rat tumor mast cell line RBL-2H3. 54 61
7536501 1995
33
[Molecular biology of L-histidine decarboxylase]. 61 54
7853145 1994
34
Mast cell proteinases activate precursor forms of collagenase and stromelysin, but not of gelatinases A and B. 54 61
8033891 1994
35
Ligand-independent activation of c-kit receptor tyrosine kinase in a murine mastocytoma cell line P-815 generated by a point mutation. 54 61
7513208 1994
36
Monoclonal antibodies to lymphocyte function-associated antigen-1 inhibit invasion of human lymphoma and metastasis of murine lymphoma. 61 54
8100492 1993
37
Generation of active myeloid and lymphoid granule serine proteases requires processing by the granule thiol protease dipeptidyl peptidase I. 61 54
8428921 1993
38
Mast cells sensitive to v-H-ras transformation are hyperinducible for interleukin 3 expression and have lost tumor-suppressor activity. 54 61
1408138 1992
39
Cloning and expression of a cDNA for mouse prostaglandin E receptor EP3 subtype. 61 54
1372606 1992
40
Synergistic effects of cyclic AMP and Ca2+ ionophore A23187 on de novo synthesis of histidine decarboxylase in mastocytoma P-815 cells. 54 61
1310051 1992
41
Mast cells and cell-to-cell interactions in airways. 54 61
1900681 1991
42
Characterization and chromosomal mapping of a cDNA encoding tryptophan hydroxylase from a mouse mastocytoma cell line. 61 54
2110547 1990
43
Novel antibodies that selectively block mouse IL-12 enable the re-evaluation of the role of IL-12 in immune protection and pathology. 61
33788263 2021
44
Mastocytosis in the skin accompanied by pseudo-Kaposi's sarcoma. 61
33684229 2021
45
Darier sign in mastocytoma. 61
33715187 2021
46
Mediator-Related Symptoms and Anaphylaxis in Children with Mastocytosis. 61
33799959 2021
47
Cutaneous mastocytosis: A dermatological perspective. 61
33040350 2021
48
Reflectance confocal microscopy of solitary mastocytoma and correlation with horizontal histopathological sections. 61
32585731 2021
49
Pleomorphic mastocytoma associated with loss of chromosome 5, PDGFRA, and HRAS mutations: A case of cutaneous mastocytosis with severe atypia and indolent behavior. 61
32896008 2021
50
Reflectance confocal microscopy as a diagnostic tool for mastocytoma in children. 61
32276049 2020

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

Pathways related to Mast Cell Neoplasm according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.56 SERPINA3 KITLG KIT ITGAL IL3 ICOSLG
2
Show member pathways
13.24 KITLG KIT ITGAL ICOSLG FCGR2B CTSC
3 12.62 PTGER3 KITLG KIT IL3 FLT3
4
Show member pathways
12.54 PRF1 ITGAL IL3 ICOSLG CTLA4 CD80
5
Show member pathways
12.17 KITLG KIT ITGAL IL3 FLT3
6 11.88 ITGAL ICOSLG CTLA4 CD80
7 11.65 ITGAL CTLA4 CD80
8 11.55 KITLG KIT IL3 FLT3
9 11.29 KITLG KIT IL3
10 11.16 KITLG KIT ITGAL IL3 FLT3 CD80
11 11.08 ITGAL ICOSLG FCGR2B CTLA4
12 10.75 KITLG KIT ITGAL IL3 FLT3 CD80

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 external side of plasma membrane GO:0009897 9.35 KIT ICOSLG FCGR2B CTLA4 CD80
2 azurophil granule lumen GO:0035578 9.33 SERPINA3 CTSG CTSC
3 protein complex involved in cell adhesion GO:0098636 8.62 CTLA4 CD80

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.83 KITLG KIT IL3 FLT3
2 inflammatory response GO:0006954 9.77 SERPINA3 PTGER3 KIT ITGAL FCGR2B
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.67 KITLG IL3 CD80
4 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.61 KIT IL3 FLT3
5 positive regulation of MAP kinase activity GO:0043406 9.58 KITLG KIT FLT3
6 negative regulation of immune response GO:0050777 9.51 FCGR2B CTLA4
7 angiotensin maturation GO:0002003 9.48 CTSG CMA1
8 T cell mediated cytotoxicity GO:0001913 9.46 PRF1 CTSC
9 immune response GO:0006955 9.43 IL3 FCGR2B CTSG CTSC CTLA4 CD80
10 T cell costimulation GO:0031295 9.33 ICOSLG CTLA4 CD80
11 ectopic germ cell programmed cell death GO:0035234 9.32 KITLG KIT
12 myeloid progenitor cell differentiation GO:0002318 9.26 KIT FLT3
13 embryonic hemopoiesis GO:0035162 8.8 KITLG KIT IL3

Sources for Mast Cell Neoplasm

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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