Mastocytosis and related entities: a practical roadmap

References

• Valent P, Akin C, Hartmann K, et al. Advances in the classification and treatment of mastocytosis: current status and outlook toward the future. Cancer Res. 2017;77(6):1261–1270.
   PubMed Web of Science ®Google Scholar
• Valent P, Akin C, Hartmann K, et al. Updated diagnostic criteria and classification of mast cell disorders: a consensus proposal. Hemasphere. 2021;5(11):e646.
   PubMed Web of Science ®Google Scholar
• Cohen SS, Skovbo S, Vestergaard H, et al. Epidemiology of systemic mastocytosis in Denmark. Br J Haematol. 2014;166(4):521–528.
   PubMed Web of Science ®Google Scholar
• Zanotti R, Bonifacio M, Isolan C, et al. A multidisciplinary diagnostic approach reveals a higher prevalence of indolent systemic mastocytosis: 15-years’ experience of the GISM network. Cancers. 2021;13(24): 6380.
   PubMed Web of Science ®Google Scholar
• Gülen T, Hägglund H, Dahlén B, et al. Mastocytosis: the puzzling clinical spectrum and challenging diagnostic aspects of an enigmatic disease. J Intern Med. 2016;279(3):211–228.
   PubMed Web of Science ®Google Scholar
• Bonadonna P, Lombardo C, Zanotti R. Mastocytosis and allergic diseases. J Investig Allergol Clin Immunol. 2014;24(5):288–97.
   PubMed Web of Science ®Google Scholar
• Lyons JJ, Yu X, Hughes JD, et al. Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number. Nat Genet. 2016;48(12):1564–1569.
   PubMed Web of Science ®Google Scholar
• Sabato V, Van De Vijver E, Hagendorens M, et al. Familial hypertryptasemia with associated mast cell activation syndrome. J Allergy Clin Immunol. 2014;134(6):1448–50.e3.
   PubMed Web of Science ®Google Scholar
• Robey RC, Wilcock A, Bonin H, et al. Hereditary alpha-tryptasemia: UK prevalence and variability in disease expression. J Allergy Clin Immunol Pract. 2020;8(10):3549–3556.
   PubMed Web of Science ®Google Scholar
• Sprinzl B, Greiner G, Uyanik G, et al. Genetic regulation of tryptase production and clinical impact: hereditary alpha tryptasemia, mastocytosis and beyond. Int J Mol Sci. 2021;22(5):2458.
   PubMed Web of Science ®Google Scholar
• Chollet MB, Akin C. Hereditary alpha tryptasemia is not associated with specific clinical phenotypes. J Allergy Clin Immunol. 2022;149(2):728–35.e2.
   PubMed Web of Science ®Google Scholar
• Sabato V, Chovanec J, Faber M, et al. First identification of an inherited tpsab1 quintuplication in a patient with clonal mast cell disease. J Clin Immunol. 2018;38(4):457–459.
   PubMed Web of Science ®Google Scholar
• Valent P, Akin C, Metcalfe DD. Mastocytosis: 2016 updated WHO classification and novel emerging treatment concepts. Blood. 2017;129(11):1420–1427.
   PubMed Web of Science ®Google Scholar
• Hartmann K, Escribano L, Grattan C, et al. Cutaneous manifestations in patients with mastocytosis: consensus report of the European Competence Network on Mastocytosis; the American Academy of Allergy, Asthma & Immunology; and the European Academy of Allergology and Clinical Immunology. J Allergy Clin Immunol. 2016;137(1): 35–45.
   PubMed Web of Science ®Google Scholar
• Wolff K, Komar M, Petzelbauer P. Clinical and histopathological aspects of cutaneous mastocytosis. Leuk Res. 2001;25(7):519–528.
   PubMed Web of Science ®Google Scholar
• Berezowska S, Flaig MJ, Ruëff F, et al. Adult-onset mastocytosis in the skin is highly suggestive of systemic mastocytosis. Mod Pathol. 2014;27(1):19–29.
   PubMed Web of Science ®Google Scholar
• Hussain SH. Pediatric mastocytosis. Curr Opin Pediatr. 2020;32(4):531–538.
   PubMed Web of Science ®Google Scholar
• De Puysseleyr LP, Ebo DG, Elst J, et al. Diagnosis of primary mast cell disorders in anaphylaxis: value of KIT D816V in peripheral blood. J Allergy Clin Immunol Pract. 2021;9(8):3176–87.e3.
   PubMed Web of Science ®Google Scholar
• Alvarez-Twose I, González-de-Olano D, Sánchez-Muñoz L, et al. Validation of the REMA score for predicting mast cell clonality and systemic mastocytosis in patients with systemic mast cell activation symptoms. Int Arch Allergy Immunol. 2012;157(3):275–280.
   PubMed Web of Science ®Google Scholar
• Akin C. Mast cell activation disorders. J Allergy Clin Immunol Pract. 2014;2(3):252–7.e1. quiz 8.
   PubMed Web of Science ®Google Scholar
• Carter MC, Desai A, Komarow HD, et al. A distinct biomolecular profile identifies monoclonal mast cell disorders in patients with idiopathic anaphylaxis. J Allergy Clin Immunol. 2018;141(1):180–8.e3.
   PubMed Web of Science ®Google Scholar
• Lyons JJ. Inherited and acquired determinants of serum tryptase levels in humans. Ann Allergy Asthma Immunol. 2021;127(4):420–426.
   PubMed Web of Science ®Google Scholar
• Zanotti R, Lombardo C, Passalacqua G, et al. Clonal mast cell disorders in patients with severe Hymenoptera venom allergy and normal serum tryptase levels. J Allergy Clin Immunol. 2015;136(1):135–139.
   PubMed Web of Science ®Google Scholar
• Vos BJ, van der Veer E, van Voorst Vader PC, et al. Diminished reliability of tryptase as risk indicator of mastocytosis in older overweight subjects. J Allergy Clin Immunol. 2015;135(3):792–798.
   PubMed Web of Science ®Google Scholar
• Giannetti MP, Akin C, Hufdhi R, et al. Patients with mast cell activation symptoms and elevated baseline serum tryptase level have unique bone marrow morphology. J Allergy Clin Immunol. 2021;147(4):1497–501.e1.
   PubMed Web of Science ®Google Scholar
• Wu R, Lyons JJ. Hereditary alpha-tryptasemia: a commonly inherited modifier of anaphylaxis. Curr Allergy Asthma Rep. 2021;21(5):33.
   PubMed Web of Science ®Google Scholar
• Greiner G, Sprinzl B, Górska A, et al. Hereditary α tryptasemia is a valid genetic biomarker for severe mediator-related symptoms in mastocytosis. Blood. 2021;137(2):238–247.
   PubMed Web of Science ®Google Scholar
• Valent P, Akin C, Nedoszytko B, et al. Diagnosis, Classification and Management of Mast Cell Activation Syndromes (MCAS) in the era of personalized medicine. Int J Mol Sci. 2020;21(23):9030.
   PubMed Web of Science ®Google Scholar
• Lange M, Nedoszytko B, Górska A, et al. Mastocytosis in children and adults: clinical disease heterogeneity. Arch Med Sci. 2012;8(3):533–541.
   PubMed Web of Science ®Google Scholar
• Reiter A, George TI, Gotlib J. New developments in diagnosis, prognostication, and treatment of advanced systemic mastocytosis. Blood. 2020;135(16):1365–1376.
   PubMed Web of Science ®Google Scholar
• Lim K-H, Tefferi A, Lasho TL, et al. Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factors. Blood. 2009;113(23):5727–5736.
   PubMed Web of Science ®Google Scholar
• Pardanani A. Systemic mastocytosis in adults: 2013 update on diagnosis, risk stratification, and management. Am J Hematol. 2013;88(7):612–624.
   PubMed Web of Science ®Google Scholar
• Parker RI. Hematologic aspects of systemic mastocytosis. Hematol Oncol Clin North Am. 2000;14(3):557–568.
   PubMed Web of Science ®Google Scholar
• Pardanani A, Lim KH, Lasho TL, et al. WHO subvariants of indolent mastocytosis: clinical details and prognostic evaluation in 159 consecutive adults. Blood. 2010;115(1):150–151.
   PubMed Web of Science ®Google Scholar
• Hermans MAW, Arends NJT, Gerth van Wijk R, et al. Management around invasive procedures in mastocytosis: an update. Ann Allergy Asthma Immunol. 2017;119(4):304–309.
   PubMed Web of Science ®Google Scholar
• Dewachter P, Kopac P, Laguna JJ, et al. Anaesthetic management of patients with pre-existing allergic conditions: a narrative review. Br J Anaesth. 2019;123(1):e65–e81.
   PubMed Web of Science ®Google Scholar
• Bonadonna P, Bonifacio M, Lombardo C, et al. Hymenoptera allergy and mast cell activation syndromes. Curr Allergy Asthma Rep. 2016;16(1): 5.
   PubMed Web of Science ®Google Scholar
• Castells M, Butterfield J. Mast cell activation syndrome and mastocytosis: initial treatment options and long-term management. J Allergy Clin Immunol Pract. 2019;7(4):1097–1106.
   PubMed Web of Science ®Google Scholar
• Pardanani A. How I treat patients with indolent and smoldering mastocytosis (rare conditions but difficult to manage). Blood. 2013;121(16):3085–3094.
   PubMed Web of Science ®Google Scholar
• Valent P, Akin C, Gleixner KV, et al. Multidisciplinary challenges in mastocytosis and how to address with personalized medicine approaches. Int J Mol Sci. 2019;20(12):2976.
   PubMed Web of Science ®Google Scholar
• Alvarez-Twose I, Matito A, Morgado JM, et al. Imatinib in systemic mastocytosis: a phase IV clinical trial in patients lacking exon 17 KIT mutations and review of the literature. Oncotarget. 2017;8(40):68950–68963.
   PubMedGoogle Scholar
• Nicolosi M, Patriarca A, Andorno A, et al. Precision medicine in systemic mastocytosis. Medicina (B Aires). 2021;57(11):1135.
   Google Scholar
• Orsolini G, Viapiana O, Rossini M, et al. Bone Disease in Mastocytosis. Immunol Allergy Clin North Am. 2018;38(3):443–454.
   PubMed Web of Science ®Google Scholar
• van der Veer E, van der Goot W, de Monchy JG, et al. High prevalence of fractures and osteoporosis in patients with indolent systemic mastocytosis. Allergy. 2012;67(3):431–438.
   PubMed Web of Science ®Google Scholar
• Greene LW, Asadipooya K, Corradi PF, et al. Endocrine manifestations of systemic mastocytosis in bone. Rev Endocr Metab Disord. 2016;17(3):419–431.
   PubMed Web of Science ®Google Scholar
• Sabato V, Michel M, Blank U, et al. Mast cell activation syndrome: is anaphylaxis part of the phenotype? A systematic review. Curr Opin Allergy Clin Immunol. 2021;21(5):426–434.
   PubMed Web of Science ®Google Scholar
• Valent P, Akin CD. I Think I Am Suffering from MCAS: differential Diagnosis and Separating Facts from Fiction. J Allergy Clin Immunol. 2019;7(4):1109–1114.
   Web of Science ®Google Scholar
• Valent P, Akin C, Escribano L, et al. Standards and standardization in mastocytosis: consensus statements on diagnostics, treatment recommendations and response criteria. Eur J Clin Invest. 2007;37(6):435–453. Figures designed with resources from Flaticon.com
   PubMed Web of Science ®Google Scholar