RESEARCH PAPERS – Genetics and Pathogenesis
KITD816V mutation in blood for the diagnostic screening of systemic mastocytosis and mast cell activation syndromes
Paula Navarro-Navarro, Iván Álvarez-Twose, Alba Pérez-Pons, Ana Henriques, Andrea Mayado, Andrés C. García-Montero, Laura Sánchez-Muñoz, Oscar González-López, Almudena Matito, Carolina Caldas, María Jara-Acevedo, Alberto Orfao (2022). This article discusses the potential utility of investigating KITD816V in genomic DNA to increase diagnostic sensitivity for MCAS. It states that, while KITD816V is a key marker for systemic mastocytosis, it is less detectable in blood for patients with low levels of the mutation, such as patients with c-MCAS. It suggests that tracking the KITD816V mutation over time could help identify patients at higher risk of disease progression.
Mast cell activation syndrome - anesthetic challenges in two different clinical scenarios
Brianna Lide, Shane McGuire, Hong Liu, Cristina Chandler (2022). This is a case report outlining two clinical scenarios of MCAS, aiming to identify possible factors triggering mast cell mediator release. It discusses diagnosis criteria, symptoms, triggers, treatment, premedication and anaphylaxis. It concludes that recognizing and managing MCAS with trigger avoidance and tailored treatment plans is essential for reducing morbidity and achieving optimal outcomes.
Idiopathic mast cell activation syndrome is more often suspected than diagnosed - A prospective real-life study
Thomas Buttgereit, Sophie Gu, Leonor Carneiro-Leão, Annika Gutsche, Marcus Maurer, Frank Siebenhaar (2022). This article details a prospective study of 100 patients with suspected idiopathic MCAS. It investigates the prevalence of diagnostic criteria including increased tryptase and response to MC-targeted treatment. It finds that only 2 of 79 patients had increased tryptase following an episode, and that depression and anxiety disorders were frequent comorbidities. It concludes that, as MCAS was confirmed in only 2% of patients, it is not MC activation that drives symptoms in most patients with suspected MCAS. It calls for further research on the pathogenesis of the disease.
Updated Diagnostic Criteria and Classification of Mast Cell Disorders: A Consensus Proposal
Peter Valent, Cem Akin, Karin Hartmann, Ivan Alvarez-Twose, Knut Brockow, Olivier Hermine, Marek Niedoszytko, Juliana Schwaab, Jonathan J Lyons, Melody C Carter, Hanneke Oude Elberink, Joseph H Butterfield, Tracy I George, Georg Greiner, Celalettin Ustun, Patrizia Bonadonna, Karl Sotlar, Gunnar Nilsson, Mohamad Jawhar, Frank Siebenhaar, Sigurd Broesby-Olsen, Selim Yavuz, Roberta Zanotti, Magdalena Lange, Boguslaw Nedoszytko, Gregor Hoermann, Mariana Castells, Deepti H Radia, Javier I Muñoz-Gonzalez, Wolfgang R Sperr, Massimo Triggiani, Hanneke C Kluin-Nelemans, Stephen J Galli, Lawrence B Schwartz, Andreas Reiter, Alberto Orfao, Jason Gotlib, Michel Arock, Hans-Peter Horny, Dean D Metcalfe (2021). This article discusses Mastocytosis, and its classification into cutaneous, systemic, and MC sarcoma forms. It highlights the role of the KIT D816V mutation and other genetic markers in determining disease severity and prognosis. The article also proposes updated diagnostic criteria and a global classification system of MC disorders generally, including MCAS.
Pathogenic and diagnostic relevance of KIT in primary mast cell activation disorders
Muñoz-González JI, García-Montero AC, Orfao A, Álvarez-Twose I. PATHOGENIC AND DIAGNOSTIC RELEVANCE OF KIT IN PRIMARY MAST CELL ACTIVATION DISORDERS [published online ahead of print, 2021 Jul 20]. Ann Allergy Asthma Immunol. 2021;S1081-1206(21)00513-5. doi:10.1016/j.anai.2021.07.014
Effect of Dietary Fiber and Metabolites on Mast Cell Activation and Mast Cell-Associated Diseases
Folkerts J, Stadhouders R, Redegeld FA, et al. Effect of Dietary Fiber and Metabolites on Mast Cell Activation and Mast Cell-Associated Diseases. Front Immunol. 2018;9:1067. Published 2018 May 29. doi:10.3389/fimmu.2018.01067
Cellular Energetics of Mast Cell Development and Activation
Mendoza RP, Fudge DH, Brown JM. Cellular Energetics of Mast Cell Development and Activation. Cells. 2021;10(3):524. Published 2021 Mar 2. doi:10.3390/cells10030524
Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing
Altmüller J, Haenisch B, Kawalia A, et al. Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing. Immunogenetics. 2017;69(6):359-369. doi:10.1007/s00251-017-0981-y
The Circadian Clock Drives Mast Cell Functions in Allergic Reactions
Christ P, Sowa AS, Froy O, Lorentz A. The Circadian Clock Drives Mast Cell Functions in Allergic Reactions. Front Immunol. 2018;9:1526. Published 2018 Jul 6. doi:10.3389/fimmu.2018.01526
Epigenetic and transcriptional control of mast cell responses.
Monticelli S, Leoni C. Epigenetic and transcriptional control of mast cell responses. F1000Res. 2017;6:2064. Published 2017 Nov 29. doi:10.12688/f1000research.12384.1
Drug-Induced Pseudoallergy: A Review of the Causes and Mechanisms
Zhang B, Li Q, Shi C, Zhang X. Drug-Induced Pseudoallergy: A Review of the Causes and Mechanisms. Pharmacology. 2018;101(1-2):104-110. doi:10.1159/000479878
Mast Cell Activation Disease and Microbiotic Interactions
Afrin LB, Khoruts A. Mast Cell Activation Disease and Microbiotic Interactions. Clin Ther. 2015;37(5):941-953. doi:10.1016/j.clinthera.2015.02.008
Beyond IgE: Alternative Mast Cell Activation Across Different Disease States
Lyons DO, Pullen NA. Beyond IgE: Alternative Mast Cell Activation Across Different Disease States. Int J Mol Sci. 2020;21(4):1498. Published 2020 Feb 22. doi:10.3390/ijms21041498
Comparative analysis of mutation of tyrosine kinase kit in mast cells from patients with systemic mast cell activation syndrome and healthy subjects.
Molderings GJ, Meis K, Kolck UW et al. Comparative analysis of mutation of tyrosine kinase kit in mast cells from patients with systemic mast cell activation syndrome and healthy subjects. Immunogenetics. 2010 Dec;62(11-12):721-7.
NIH Video, scientists uncover genetic explanation for frustrating syndrome
Scientists at the National Institutes of Health have identified a genetic explanation for a syndrome characterized by multiple frustrating and difficult-to-treat symptoms.Most, but not all, people who experience these diverse symptoms have elevated levels of tryptase
Elevated basal serum tryptase identifies a multisystem disorder
JJ Lyons et al. Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number. Nature Genetics DOI: 10.1038/ng.3696 (2016).
Transgenerational transmission of systemic mast cell activation disease-genetic and epigenetic features
Molderings GJ. Transgenerational transmission of systemic mast cell activation disease-genetic and epigenetic features. Transl Res. 2016 Aug;174:86-97
The genetic basis of mast cell activation disease - looking through a glass darkly
Molderings GJ. The genetic basis of mast cell activation disease - looking through a glass darkly. Crit Rev Oncol Hematol. 2015 Feb;93(2):75-89.
Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities
Lyons JJ, Sun G, Stone KD, et al. Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities. J Allergy Clin Immunol. 2014 May;133(5):1471-4 .
Evidence for contribution of epigenetic mechanisms in the pathogenesis of systemic mast cell activation disease
Haenisch B, Fröhlich H, Herms S, Molderings GJ. Evidence for contribution of epigenetic mechanisms in the pathogenesis of systemic mast cell activation disease. Immunogenetics. 2014 May;66(5):287-97.
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