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Mastocytosis: from a Molecular Point of View.
Clin Rev Allergy Immunol 2018; 54(3):397-411CR

Abstract

Mast cells (MCs) are physiologically activated by binding of stem cell factor (SCF) to the extracellular domains of the Kit receptor. This binding increases the proliferation and prolongs the survival of normal mature MCs, as well as intensifies the release of mediators. In mastocytosis, somatic mutations of the coding Kit gene cause autocrine dysregulation and lead to constitutive KIT activation even in the absence of its ligand SCF. Clinical symptoms are caused by MC-mediator release and/or infiltration of MCs into tissues. Aberrant KIT activation may result in increased production of MCs in the skin and extracutaneous organs. Depending on the affected organ(s), the disease can be divided into cutaneous mastocytosis (CM), systemic mastocytosis (SM), and localized MC tumors. The updated classification of WHO discriminates between several distinct subvariants of CM and SM. While the prognosis in CM and indolent SM (ISM) is excellent with (almost) normal life expectancy, the prognosis in aggressive SM (ASM) and MC leukemia (MCL) is dismal. The symptoms may comprise urticaria, angioedema, flush, pruritus, abdominal pain, diarrhea, hypotension, syncope, and musculoskeletal pain and are the results of MC infiltration and mediator release into target organs, i.e., the skin, gastrointestinal tract, liver, spleen, lymph nodes, and bone marrow. Mastocytosis differs from a lot of other hematological disorders because its pathology is not only based on the lack of normal function of a specific pathway or of a specific cell type but additionally is a proliferative disease. Currently available treatments of mastocytosis include symptomatic, antimediator and cytoreductive targeted therapies.

Authors+Show Affiliations

Immunology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran. Department of Immunology, Tabriz University of Medical Sciences, Tabriz, Iran.Ohio University Heritage College of Osteopathic Medicine, Athens, OH, USA.Floridsdorf Allergy Center (FAZ), Vienna, Austria. woehrl@faz.at. Department of Dermatology, Division of Immunology, Allergy and Infectious Diseases (DIAID), Medical University of Vienna, Vienna, Austria. woehrl@faz.at.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

28725969

Citation

Komi, Daniel Elieh Ali, et al. "Mastocytosis: From a Molecular Point of View." Clinical Reviews in Allergy & Immunology, vol. 54, no. 3, 2018, pp. 397-411.
Komi DEA, Rambasek T, Wöhrl S. Mastocytosis: from a Molecular Point of View. Clin Rev Allergy Immunol. 2018;54(3):397-411.
Komi, D. E. A., Rambasek, T., & Wöhrl, S. (2018). Mastocytosis: from a Molecular Point of View. Clinical Reviews in Allergy & Immunology, 54(3), pp. 397-411. doi:10.1007/s12016-017-8619-2.
Komi DEA, Rambasek T, Wöhrl S. Mastocytosis: From a Molecular Point of View. Clin Rev Allergy Immunol. 2018;54(3):397-411. PubMed PMID: 28725969.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mastocytosis: from a Molecular Point of View. AU - Komi,Daniel Elieh Ali, AU - Rambasek,Todd, AU - Wöhrl,Stefan, PY - 2017/7/21/pubmed PY - 2018/10/12/medline PY - 2017/7/21/entrez KW - Cutaneous mastocytosis KW - D816V mutation KW - KIT KW - Mast cell KW - SCF KW - Systemic mastocytosis SP - 397 EP - 411 JF - Clinical reviews in allergy & immunology JO - Clin Rev Allergy Immunol VL - 54 IS - 3 N2 - Mast cells (MCs) are physiologically activated by binding of stem cell factor (SCF) to the extracellular domains of the Kit receptor. This binding increases the proliferation and prolongs the survival of normal mature MCs, as well as intensifies the release of mediators. In mastocytosis, somatic mutations of the coding Kit gene cause autocrine dysregulation and lead to constitutive KIT activation even in the absence of its ligand SCF. Clinical symptoms are caused by MC-mediator release and/or infiltration of MCs into tissues. Aberrant KIT activation may result in increased production of MCs in the skin and extracutaneous organs. Depending on the affected organ(s), the disease can be divided into cutaneous mastocytosis (CM), systemic mastocytosis (SM), and localized MC tumors. The updated classification of WHO discriminates between several distinct subvariants of CM and SM. While the prognosis in CM and indolent SM (ISM) is excellent with (almost) normal life expectancy, the prognosis in aggressive SM (ASM) and MC leukemia (MCL) is dismal. The symptoms may comprise urticaria, angioedema, flush, pruritus, abdominal pain, diarrhea, hypotension, syncope, and musculoskeletal pain and are the results of MC infiltration and mediator release into target organs, i.e., the skin, gastrointestinal tract, liver, spleen, lymph nodes, and bone marrow. Mastocytosis differs from a lot of other hematological disorders because its pathology is not only based on the lack of normal function of a specific pathway or of a specific cell type but additionally is a proliferative disease. Currently available treatments of mastocytosis include symptomatic, antimediator and cytoreductive targeted therapies. SN - 1559-0267 UR - https://www.unboundmedicine.com/medline/citation/28725969/Mastocytosis:_from_a_Molecular_Point_of_View_ L2 - https://dx.doi.org/10.1007/s12016-017-8619-2 DB - PRIME DP - Unbound Medicine ER -