Article
Allergy
Leander P. De Puysseleyr, Didier G. Ebo, Jessy Elst, Margaretha A. Faber, Marie-Line Van der Poorten, Athina L. Van Gasse, Chris H. Bridts, Christel Mertens, Michel Van Houdt, Margo M. Hagendorens, Anke Verlinden, Katrien Vermeulen, Marie-Berthe Maes, Zwi N. Berneman, Vito Sabato
Summary: In patients with severe anaphylaxis but no mastocytosis in the skin and baseline serum tryptase less than 30 ng/mL, detection of the KIT D816V mutation in peripheral blood may not be very helpful in diagnosing primary mast cell disorders.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
(2021)
Review
Cell Biology
Sameer Shivji, James Ryan Conner, Richard Kirsch
Summary: Mast cells in the gastrointestinal tract have a crucial role in host defence and other functions, but dysregulation can lead to various disorders. Pathologists face challenges in evaluating mast cells in GI biopsies, with varying approaches and criteria. While there is established utility in systemic mastocytosis, the role of histopathology remains controversial in nonneoplastic mast cell disorders. Despite lacking published evidence, requests for mast cell quantification have increased. This review aims to provide evidence-based guidance for pathologists in evaluating mast cells in endoscopic GI biopsies.
Review
Hematology
Melody C. Carter, Dean D. Metcalfe
Summary: Historically, understanding of human mast cells has lagged behind other cell lineages, and there is currently no identified pharmacological agent that can completely and selectively inhibit human MC function. Mast cell diseases are categorized as intrinsic or extrinsic to the MC compartment, with mediators playing a key role in MC activation disorders.
BRITISH JOURNAL OF HAEMATOLOGY
(2022)
Article
Allergy
Paula Navarro-Navarro, Ivan Alvarez-Twose, Alba Perez-Pons, Ana Henriques, Andrea Mayado, Andres C. Garcia-Montero, Laura Sanchez-Munoz, Oscar Gonzalez-Lopez, Almudena Matito, Carolina Caldas, Maria Jara-Acevedo, Alberto Orfao
Summary: This study found a high correlation between the KITD816V mutation burden in blood and bone marrow, but a lower number of mutated cells in blood. In some cases, there was a discrepancy between the presence of mutated cells in bone marrow and the absence of mutated cells in blood. Purified myeloid cell populations in blood revealed the presence of mutated eosinophils, basophils, neutrophils, and/or monocytes in most patients. The presence of >= 3.5% KITD816V-mutated cells and an unstable mutation burden in blood and/or bone marrow were associated with a shorter progression-free survival.
Review
Biochemistry & Molecular Biology
Boguslaw Nedoszytko, Michel Arock, Jonathan J. Lyons, Guillaume Bachelot, Lawrence B. Schwartz, Andreas Reiter, Mohamad Jawhar, Juliana Schwaab, Magdalena Lange, Georg Greiner, Gregor Hoermann, Marek Niedoszytko, Dean D. Metcalfe, Peter Valent
Summary: Mastocytosis is a rare disease where clonal mast cells expand in the skin and internal organs, leading to systemic involvement in some cases. Various subtypes exist, with the most prevalent pathogenic variant being KIT p.D816V. Somatic mutations in genes like TET2 and JAK2 have also been identified, impacting clinical and cellular phenotypes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Cell Biology
Ryan P. Mendoza, Dylan H. Fudge, Jared M. Brown
Summary: Mast cells play a crucial role in type 1 immune hypersensitivity reactions and have a wide range of influences on different systems throughout the body. Their dynamic energy metabolism allows rapid responsiveness to energetic demands, with metabolic pathway shifts potentially preceding and controlling activation and differentiation. Further research into mast cell metabolism could provide valuable insights into mast cell function.
Article
Allergy
Charles F. Schuler, Sofija Volertas, Dilawar Khokhar, Huseyin Yuce, Lu Chen, Onur Baser, Jenny M. Montejo, Cem Akin
Summary: Using an insurance claims database and a retrospective study at the University of Michigan, it was found that the prevalence of HVA in the US is lower than previously reported, while the prevalence of mastocytosis in patients with HVA is higher but still lower than previously reported. There was no correlation between tryptase level and reaction severity in patients undergoing VIT.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2021)
Article
Allergy
Laura Polivka, Julien Rossignol, Antoine Neuraz, Djiba Conde, Julie Agopian, Cecile Meni, Nicolas Garcelon, Patrice Dubreuil, Leila Maouche-Chretien, Smail Hadj-Rabia, Olivier Hermine, Christine Bodemer
Summary: The regression of cutaneous mastocytosis in pediatric patients is associated with congenital mastocytosis and the KIT D816V mutation. The worsening of MCASs over time is correlated with the persistence of skin lesions, but in 19% of patients with MCASs at baseline and CM regression, MCASs become more intense. Additional long-term follow-up in this setting is justified.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
(2021)
Review
Biochemistry & Molecular Biology
Roberta Parente, Valentina Giudice, Chiara Cardamone, Bianca Serio, Carmine Selleri, Massimo Triggiani
Summary: Mast cells (MCs) are immune cells that play a significant role in allergic and inflammatory diseases, releasing pro-inflammatory mediators. MC disorders, including mastocytosis and MC activation syndromes, are heterogeneous conditions characterized by abnormal MC proliferation and hyperactivity. The diagnosis of MC disorders is challenging due to the transient and unspecific symptoms and the similarity with other diseases. Tryptase is currently used as a biomarker for MC activation, but there is a need for further research to identify more reliable biomarkers.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Allergy
Benedetta Sordi, Fiorenza Vanderwert, Francesca Crupi, Francesca Gesullo, Roberta Zanotti, Patrizia Bonadonna, Lara Crosera, Chiara Elena, Nicolas Fiorelli, Jacqueline Ferrari, Federica Grifoni, Mariarita Sciume, Roberta Parente, Massimo Triggiani, Boaz Palterer, Valentina Mecheri, Fabio Almerigogna, Raffaella Santi, Lisa Di Medio, Maria Luisa Brandi, Maria Loredana Iorno, Isabella Ciardetti, Sara Bencini, Francesco Annunziato, Carmela Mannarelli, Lisa Pieri, Paola Guglielmelli, Francesco Mannelli, Alessandro M. Vannucchi
Summary: This study found that increased copy number variants of the TPSAB1 gene are associated with nonclonal elevated tryptasemia and mastocytosis. Patients with mastocytosis have a higher proportion of HaT+ cases, which have specific clinical characteristics and disease burdens. Therefore, knowledge of HaT status may be useful for personalized management of patients with mastocytosis.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2023)
Review
Pharmacology & Pharmacy
Gerhard J. Molderings, Lawrence B. Afrin
Summary: This study comprehensively compiles a list of 390 mediators released by mast cells upon activation. These mediators can be secreted into the extracellular space and may still underestimate the actual number. The compilation can be used by physicians to gain clarity about mast cell mediators involved in patients with refractory symptoms.
NAUNYN-SCHMIEDEBERGS ARCHIVES OF PHARMACOLOGY
(2023)
Article
Allergy
Thomas Boehm, Robin Ristl, Jakob Muehlbacher, Peter Valent, Markus Wahrmann, Bernd Jilma
Summary: This study analyzed the abnormalities in chemokine and cytokine concentrations during severe mast cell activation (MCA) events. The release of TH2 cytokines during severe MCA events induced a hyperinflammatory state. Using IL-6 and IL-5 inhibiting biologicals may significantly shorten the acute phase of severe MCA events and provide clinical benefits to patients with mastocytosis.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2022)
Article
Allergy
Matthew P. Giannetti, Grace Godwin, Emily Weller, Joseph H. Butterfield, Mariana Castells
Summary: Patients with hereditary alpha-tryptasemia (H alpha T) and symptoms of mast cell activation do not have elevated levels of mast cell urinary metabolites, suggesting that granule- and membrane-derived mediators may not play a role in driving symptoms in H alpha T.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2022)
Review
Pathology
Nicole C. Panarelli, Jason L. Hornick, Rhonda K. Yantiss
Summary: Neoplastic and nonneoplastic mast cell disorders can cause gastrointestinal symptoms due to increased release of mast cell mediators. This review aims to provide pathologists with practical information on assessing mast cells in the gastrointestinal tract to help manage patients with presumed mast cell disorders.
Review
Oncology
Magda Zanelli, Marco Pizzi, Francesca Sanguedolce, Maurizio Zizzo, Andrea Palicelli, Alessandra Soriano, Alessandra Bisagni, Giovanni Martino, Cecilia Caprera, Marina Moretti, Francesco Masia, Loredana De Marco, Elisabetta Froio, Moira Foroni, Giuditta Bernardelli, Maria Isabel Alvarez de Celis, Alessandro Giunta, Francesco Merli, Stefano Ascani
Summary: Mastocytosis represents a heterogeneous group of neoplastic mast cell disorders, with gastrointestinal symptoms being a major cause of morbidity in patients. Diagnosing the disease can be challenging and requires a close multidisciplinary team approach for diagnosis and treatment.
