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This section gives an overview of the disease, and where available shows the following:
More information can be found in the help pages.
✖Disease ID: | 1194 | |
Name: | Mastocytosis | |
Associated with: | 1 target | |
1 immuno-relevant target | ![]() |
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4 immuno-relevant ligands |
Click on the target name to link to its detailed view page
Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖KIT proto-oncogene, receptor tyrosine kinase | |||||||||||
Comments: | Constitutively active KIT D816V is associated with mast cell clonal disorders. KIT D816V detection in blood and bone marrow is important for diagnosing systemic mastocytosis. | ||||||||||
References: | 8,11 | ||||||||||
Mutations: | KIT proto-oncogene, receptor tyrosine kinase is associated with 1 mutation. Click here for details ![]() | ||||||||||
Ligand interactions: |
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Click ligand name to view ligand summary page
Click the arrow in the final column to expand comments
More information can be found in the help pages.
✖Key to terms and symbols | Click ligand name to view ligand summary | Click column headers to sort | |||||||||||||||||||||||||||||||||||||||||||||
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1. Bibi S, Zhang Y, Hugonin C, Mangean MD, He L, Wedeh G, Launay JM, Van Rijn S, Würdinger T, Louache F et al.. (2016) A new humanized in vivo model of KIT D816V+ advanced systemic mastocytosis monitored using a secreted luciferase. Oncotarget, 7 (50): 82985-83000. [PMID:27783996]
2. Connors JM, Jurczak W, Straus DJ, Ansell SM, Kim WS, Gallamini A, Younes A, Alekseev S, Illés Á, Picardi M et al.. (2018) Brentuximab Vedotin with Chemotherapy for Stage III or IV Hodgkin's Lymphoma. N Engl J Med, 378 (4): 331-344. [PMID:29224502]
3. Dubreuil P, Letard S, Ciufolini M, Gros L, Humbert M, Castéran N, Borge L, Hajem B, Lermet A, Sippl W et al.. (2009) Masitinib (AB1010), a potent and selective tyrosine kinase inhibitor targeting KIT. PLoS ONE, 4 (9): e7258. [PMID:19789626]
4. FDA. FDA approves Brentuximab vedotin for the treatment of adult patients with primary cutaneous anaplastic large cell lymphoma. Accessed on 10/11/2017. Modified on 10/11/2017. fda.gov, https://www.fda.gov/Drugs/InformationOnDrugs/ApprovedDrugs/ucm584543.htm?utm_campaign=Oncology%2011%2F9&utm_medium=email&utm_source=Eloqua&elqTrackId=06d11c937bec44c79cd3d453daecb608&elq=4d1b00c5aad64538a4ce8e687b3f3786&elqaid=1289&elqat=1&elqCampaignId=770
5. Francisco JA, Risdon G, Wahl AF, Siegall C. (2006) immunotherapy; fusion proteins; antitumor agents; for treatment and prevention of hodgkin's disease. Patent number: US7090843. Assignee: Seattle Genetics, Inc. Priority date: 09/12/2014. Publication date: 15/08/2006.
6. Gallogly MM, Lazarus HM, Cooper BW. (2017) Midostaurin: a novel therapeutic agent for patients with FLT3-mutated acute myeloid leukemia and systemic mastocytosis. Ther Adv Hematol, 8 (9): 245-261. [PMID:29051803]
7. Greiner G, Gurbisz M, Ratzinger F, Witzeneder N, Simonitsch-Klupp I, Mitterbauer-Hohendanner G, Mayerhofer M, Müllauer L, Sperr WR, Valent P et al.. (2018) Digital PCR: A Sensitive and Precise Method forKITD816V Quantification in Mastocytosis. Clin Chem, 64 (3): 547-555. [PMID:29237714]
8. Kristensen T, Vestergaard H, Bindslev-Jensen C, Mortz CG, Kjaer HF, Ollert M, Møller MB, Broesby-Olsen S, Mastocytosis Centre Odense University Hospital (MastOUH). (2017) Prospective evaluation of the diagnostic value of sensitive KIT D816V mutation analysis of blood in adults with suspected systemic mastocytosis. Allergy, 72 (11): 1737-1743. [PMID:28432683]
9. Moskowitz CH, Nademanee A, Masszi T, Agura E, Holowiecki J, Abidi MH, Chen AI, Stiff P, Gianni AM, Carella A et al.. (2015) Brentuximab vedotin as consolidation therapy after autologous stem-cell transplantation in patients with Hodgkin's lymphoma at risk of relapse or progression (AETHERA): a randomised, double-blind, placebo-controlled, phase 3 trial. Lancet, 385 (9980): 1853-62. [PMID:25796459]
10. Onnes MC, Tanno LK, Elberink JN. (2016) Mast Cell Clonal Disorders: Classification, Diagnosis and Management. Curr Treat Options Allergy, 3 (4): 453-464. [PMID:27942432]
11. Pardanani A. (2019) Systemic mastocytosis in adults: 2019 update on diagnosis, risk stratification and management. Am J Hematol, 94 (3): 363-377. [PMID:30536695]
12. Taylor ML, Sehgal D, Raffeld M, Obiakor H, Akin C, Mage RG, Metcalfe DD. (2004) Demonstration that mast cells, T cells, and B cells bearing the activating kit mutation D816V occur in clusters within the marrow of patients with mastocytosis. J Mol Diagn, 6 (4): 335-42. [PMID:15507672]
13. Weisberg E, Boulton C, Kelly LM, Manley P, Fabbro D, Meyer T, Gilliland DG, Griffin JD. (2002) Inhibition of mutant FLT3 receptors in leukemia cells by the small molecule tyrosine kinase inhibitor PKC412. Cancer Cell, 1 (5): 433-43. [PMID:12124173]
14. Younes A, Connors JM, Park SI, Fanale M, O'Meara MM, Hunder NN, Huebner D, Ansell SM. (2013) Brentuximab vedotin combined with ABVD or AVD for patients with newly diagnosed Hodgkin's lymphoma: a phase 1, open-label, dose-escalation study. Lancet Oncol, 14 (13): 1348-56. [PMID:24239220]