Diagnostic biomarkers in mastocytosis

Abstract

Introduction: mastocytosis is a rare disease triggered by the KIT D816V mutation that increases the proliferation and survival of mast cells in several organs. Mast cells have crucial receptors such as KIT, TLR, complement (C5aR, C3aR), MHCI, MHCII, MRGPRX, and FcεRI that allow them to activate and degranulate in innate and adaptive immune responses. The prevalence of mastocytosis is 10 cases per 10,000 individuals worldwide and is classified into cutaneous and systemic mastocytosis, affecting both children and adults.Objective: characterize the specific biomarkers crucial for the prognosis, diagnosis, and monitoring of Mastocytosis.Method: a bibliographic review was conducted by searching information in databases such as Pubmed, ScienceDirect, and Google Scholar from March to May 2024, including a total of 35 English articles published in the last 10 years and several published before 2019 that contributed relevant information to the topic. Results: it has been determined that prognostic biomarkers help identify severe forms of the disease. Meanwhile, diagnostic and follow-up biomarkers are utilized to confirm the disease and evaluate its progression and treatment effectiveness. Additionally, it has been demonstrated that biomarkers can determine the risk of anaphylaxis, as well as the subtypes of mastocytosis.Conclusion: biomarkers for the prognosis of mastocytosis, such as basal serum tryptase (BST) and hereditary α-tryptasemia (HαT) were characterized. In addition, diagnostic and monitoring biomarkers such as the KID D816V mutation, analysis of extracellular vesicles (EVs), CD25+/CD2+/CD30+, MITF, miRNAs, LBP, CXCL7, TGF-β1, PDGFRβ, IL-6, leukotrienes, prostaglandin, histamine, and IgE