Mast Cell Activation Disorders (Mast-Cell Disease)

A spectrum of primary, secondary, and idiopathic disorders involving MAST CELLS and characterized by an aberrant release of mast cell mediators which result in multiple and variable inflammatory and allergic symptoms. These disorders are associated with various mutations in tyrosine kinase KIT (PROTO-ONCOGENE PROTEINS C-KIT) and other genes, underlying conditions, and responses to allergic or non-allergic triggers of mast cell stimulation and degranulation such as local anesthetics, lactam antibiotics, muscle relaxants, specific foods, environmental toxins, physical conditions such as vibration, cold, pressure, and stress.

Also Known As:

Networked: 110 relevant articles (7 outcomes, 4 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Neoplasms (Cancer)
2.	Mastocytosis
3.	Cutaneous Mastocytosis
4.	Hypereosinophilic Syndrome (Loeffler Endocarditis)
5.	Dermatofibrosarcoma

Experts

1.	Akin, Cem: 9 articles (01/2022 - 04/2004)
2.	Molderings, Gerhard J: 9 articles (08/2021 - 12/2010)
3.	Valent, Peter: 7 articles (01/2022 - 10/2005)
4.	Metcalfe, Dean D: 6 articles (01/2022 - 04/2004)
5.	Sperr, Wolfgang R: 6 articles (01/2022 - 10/2005)
6.	Afrin, Lawrence B: 5 articles (01/2022 - 07/2011)
7.	Gotlib, Jason: 5 articles (01/2022 - 08/2006)
8.	Lyons, Jonathan J: 5 articles (01/2022 - 11/2019)
9.	Arock, Michel: 4 articles (01/2022 - 09/2019)
10.	Bonadonna, Patrizia: 4 articles (01/2022 - 08/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mast Cell Activation Disorders:

1.	Tryptases (Tryptase)IBA 01/01/2023 - "Using this personalized laboratory medicine approach, we demonstrate the clinical utility of tryptase genotyping, finding that in the absence of HαT, BST levels >11.4 ng/mL frequently identify indolent clonal mast cell disease. " 01/01/2022 - "Incorporating Tryptase Genotyping Into the Workup and Diagnosis of Mast Cell Diseases and Reactions." 01/01/2020 - "A major challenge is how to integrate conventional markers of mast cell disease burden (percentage of bone marrow mast cell infiltration and serum tryptase levels) with molecular data (serial monitoring of both KIT D816V variant allele frequency and NGS panels) to lend more diagnostic and prognostic clarity to the heterogeneous clinical presentations and natural histories of advSM. " 07/01/2011 - "Factors contributing to reaction severity include older age, insect type, a previous less severe SR, preexisting diseases, concomitant treatments, mast cell diseases and elevated baseline tryptase serum concentration. " 06/01/2010 - "Systemic mast cell activation disorders (MCADs) are characterized by severe and systemic mast cell (MC) mediators-related symptoms frequently associated with increased serum baseline tryptase (sBt). "
2.	Imatinib Mesylate (Gleevec)FDA Link 01/01/2008 - "In agreement with this, the patient responded very well to imatinib with resolution of clinical symptoms, basophilia, and mast cell disease. " 01/01/2004 - "FIP1L1-PDGFRA+ mast cell disease responds completely to imatinib mesylate. " 02/01/2006 - "Imatinib has been reported to be an effective treatment for FIP1L1-PDGFRalpha+ mast cell disease, hypereosinophilic syndrome, and dermatofibrosarcoma protuberans. " 12/01/2002 - "The high prevalence of c-kit activating mutations in MCTs of dogs combined with the relative abundance of mast cell disease in dogs provide an ideal naturally developing tumor in which to test the safety and efficacy of novel small-molecule kinase inhibitors such as imatinib mesylate."
3.	AntibodiesIBA 01/01/1996 - "However, the use of antibodies to mast cell antigens has recently improved the diagnostic efficiency in patients with suspected mast cell disease. " 04/01/2007 - "Mast cell tryptase and MiTF emerged as highly sensitive and specific markers for mast cell disease in this context, as both antibodies stained all cases of mast cell diseases but none of myeloid leukemia cutis. " 10/01/1996 - "Immunohistochemical characterization of mast cell disease in paraffin sections using tryptase, CD68, myeloperoxidase, lysozyme, and CD20 antibodies." 04/01/2007 - "We stained 17 cases of cutaneous mast cell disease and 20 cases of myeloid leukemia cutis with Giemsa, toluidine blue, or pinacyanol erythrosinate (PE), as well as with antibodies against mast cell tryptase, microphthalmia transcription factor (MiTF), CD117 (c-kit), myeloperoxidase, CD43, CD25, CD2, and CD68. "
4.	Phosphotransferases (Kinase)IBA 12/01/2002 - "The high prevalence of c-kit activating mutations in MCTs of dogs combined with the relative abundance of mast cell disease in dogs provide an ideal naturally developing tumor in which to test the safety and efficacy of novel small-molecule kinase inhibitors such as imatinib mesylate." 05/01/2008 - "Gain-of-function mutations in the proto-oncogene c-kit that induce constitutive kinase activity of its product, KIT protein, are characteristic of human mast cell disease and are believed to play a central role in mast cell leukemia oncogenesis, proliferation and survival. "
5.	AntigensIBA 04/01/2003 - "Expression of lymphoid-associated antigens in mast cell disease: new observations." 01/01/1996 - "However, the use of antibodies to mast cell antigens has recently improved the diagnostic efficiency in patients with suspected mast cell disease. "
6.	Tyrosine (L-Tyrosine)FDA Link 07/01/2007 - "Efficacy of newer generation tyrosine inhibitors in mast cell disease is currently being evaluated."
7.	lokivetmabIBA 02/01/2019 - "Lokivetmab treatment was effective in resolving and maintaining pruritus remission in this dog with widespread cutaneous mast cell disease. "
8.	MicroRNAs (MicroRNA)IBA 03/31/2011 - "This work demonstrates a novel regulatory pathway between 2 critical mast cell factors, KIT and MITF, mediated by miRNAs; dysregulation of this pathway may contribute to abnormal mast cell proliferation and malignant mast cell diseases." 02/11/2014 - "The purpose of this study was to investigate the potential contribution of miRNA dysregulation to the biology of canine mast cell tumors (MCTs), a well-established spontaneous model of malignant mast cell disease. " 02/11/2014 - "While microRNA (miRNA) expression is known to be altered in a variety of human malignancies contributing to cancer development and progression, the potential role of miRNA dysregulation in malignant mast cell disease has not been previously explored. "
9.	Fibroblast Growth Factor 2 (Basic Fibroblast Growth Factor)IBA 01/01/2002 - "Immunohistochemical studies of c-kit, transforming growth factor-beta, and basic fibroblast growth factor in mast cell disease." 01/01/2002 - "In 58 patients with mast cell disease (MCD) and three with basophilic leukemia, bone marrow (54 cases) or skin tissue (four cases) was studied immunohistochemically for expression of Kit (c-kit protein), the different isomers of transforming growth factor-beta (TGF-beta), basic fibroblast growth factor (bFGF), and their respective receptors. "
10.	Transforming Growth Factor beta (TGF-beta)IBA 01/01/2002 - "Immunohistochemical studies of c-kit, transforming growth factor-beta, and basic fibroblast growth factor in mast cell disease." 01/01/2002 - "In 58 patients with mast cell disease (MCD) and three with basophilic leukemia, bone marrow (54 cases) or skin tissue (four cases) was studied immunohistochemically for expression of Kit (c-kit protein), the different isomers of transforming growth factor-beta (TGF-beta), basic fibroblast growth factor (bFGF), and their respective receptors. "

Therapies and Procedures

1.	Local Anesthesia 01/01/2021 - "Safety of local anesthesia and prevalence of hypersensitivity reactions in adult patients with clonal mast cell diseases: A retrospective single-center study."
2.	Therapeutics 09/01/2019 - "Patients with mast cell diseases may suffer from various distressing symptoms, which can be insufficiently controlled with available therapies, severely affecting their quality of life. " 01/01/2018 - "Antimediator therapy may help alleviate GI symptoms in mast cell disease." 07/01/2006 - "Flow cytometric analysis of bone marrow mast cells is therefore a sensitive method of diagnosis of mast cell disease and is expected to find increasing use in determining response to emerging mast cell cytoreductive therapies." 01/01/2020 - "In 2002, a European consortium of clinicians and scientists initiated a multidisciplinary, multi-national cooperative network, termed the 'European Competence Network on Mastocytosis' (ECNM), with the aim to improve diagnosis and therapy of patients with mastocytosis and other mast cell activation disorders. " 10/01/2019 - "The nature of gastrointestinal symptomatology in the setting of both hypereosinophilic syndrome and mast cell disease is frequently manifold, heterogeneous, and the lack of better targeted therapy makes diagnosis and management challenging, especially when faced with a substantial differential. "
3.	Operative Surgical Procedures 07/01/2019 - "When MCAD-specific peculiarities are preventively considered in the anesthesiological and surgical procedures in patients with proven or suspected mast cell disease, MCAD patients should not be classified as being at risk." 05/01/2019 - "We describe an unusual case of a patient with a solitary mastocytoma who experienced an anaphylactic reaction during a surgical procedure and make recommendations to reduce the risk of intraoperative anaphylaxis in mast cell disease."
4.	Immunotherapy 12/01/2007 - "Patients suffering from mast cell diseases seem to be at greater risk for an adverse reaction during treatment, without influencing its efficacy that much until the immunotherapy is actually ongoing. " 11/01/2013 - "Omalizumab mitigates anaphylaxis during ultrarush honey bee venom immunotherapy in monoclonal mast cell activation syndrome."
5.	Drug Therapy (Chemotherapy) 07/01/2014 - "The reader should be able to recognize and diagnose a systemic mast cell activation disease, as well as to counsel a personalized drug therapy. " 03/01/2018 - "Furthermore, a chemotherapy protocol including combination lomustine and vinblastine therapy may be more effective than toceranib phosphate for the treatment of dogs with disseminated mast cell disease. "