New developments in the field of mastocytosis and mast cell activation syndromes: a summary of the Annual Meeting of the European Competence Network on Mastocytosis (ECNM) 2019

References

• Valent P, Akin C, Hartmann K, et al. Advances in the classification and treatment of mastocytosis: current status and outlook toward the future [Review]. Cancer Res. 2017;77(6):1261–1270.
   PubMed Web of Science ®Google Scholar
• Valent P, Akin C, Metcalfe DD. Mastocytosis: 2016 updated WHO classification and novel emerging treatment concepts [Review]. Blood. 2017;129(11):1420–1427.
   PubMed Web of Science ®Google Scholar
• Valent P. Mastocytosis: a paradigmatic example of a rare disease with complex biology and pathology. Am J Cancer Res. 2013;3(2):159–172.
   PubMed Web of Science ®Google Scholar
• Valent P, Akin C, Bonadonna P, et al. Proposed diagnostic algorithm for patients with suspected mast cell activation syndrome. J Allergy Clin Immunol Pract. 2019;7(4):1125–1133.
   PubMed Web of Science ®Google Scholar
• Ustun C, Arock M, Kluin-Nelemans HC, et al. Advanced systemic mastocytosis: from molecular and genetic progress to clinical practice. Haematologica. 2016;101(10):1133–1143.
   PubMed Web of Science ®Google Scholar
• Pardanani A. Systemic mastocytosis in adults: 2019 update on diagnosis, risk stratification and management. Am J Hematol. 2019;94(3):363–377.
   PubMed Web of Science ®Google Scholar
• Valent P, Arock M, Bischoff SC, et al. The European Competence Network on Mastocytosis (ECNM). Wien Klin Wochenschr. 2004;116(19–20):647–651.
   PubMed Web of Science ®Google Scholar
• Valent P, Arock M, Bonadonna P, et al. European Competence Network on Mastocytosis (ECNM): 10-year jubilee, update, and future perspectives. Wien Klin Wochenschr. 2012;124(23-24):807–814.
   PubMed Web of Science ®Google Scholar
• Valent P, Oude Elberink JNG, Gorska A, et al. The data registry of the European Competence Network on Mastocytosis (ECNM): set up, projects, and perspectives. J Allergy Clin Immunol Pract. 2019;7(1):81–87.
   PubMed Web of Science ®Google Scholar
• Valent P, Hadzijusufovic E, Grunt T, et al. Ludwig Boltzmann Cluster Oncology (LBC ONC): first 10 years and future perspectives. Wien Klin Wochenschr. 2018;130(17-18):517–529.
   PubMed Web of Science ®Google Scholar
• Eisenwort G, Sadovnik I, Schwaab J, et al. Identification of a leukemia-initiating stem cell in human mast cell leukemia. Leukemia. 2019;33:2673–2684.
   PubMed Web of Science ®Google Scholar
• Mueller N, Wicklein D, Eisenwort G, et al. CD44 is a RAS/STAT5-regulated invasion receptor that triggers disease expansion in advanced mastocytosis. Blood. 2018;132(18):1936–1950.
   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):1448–1450 e3.
   PubMed Web of Science ®Google Scholar
• Lyons JJ. Hereditary alpha tryptasemia: genotyping and associated clinical features. Immunol Allergy Clin North Am. 2018;38(3):483–495.
   PubMed Web of Science ®Google Scholar
• Le QT, Lyons JJ, Naranjo AN, et al. Impact of naturally forming human alpha/beta-tryptase heterotetramers in the pathogenesis of hereditary alpha-tryptasemia. J Exp Med. 2019;216(10):2348–2361.
   PubMed Web of Science ®Google Scholar
• Akin C, Valent P, Metcalfe DD. Mast cell activation syndrome: proposed diagnostic criteria. J Allergy Clin Immunol. 2010;126(6):1099–1104.
   PubMed Web of Science ®Google Scholar
• Valent P, Akin C, Arock M, et al. Definitions, criteria and global classification of mast cell disorders with special reference to mast cell activation syndromes: a consensus proposal. Int Arch Allergy Immunol. 2012;157(3):215–225.
   PubMed Web of Science ®Google Scholar
• Valent P. Mast cell activation syndromes: definition and classification. Allergy. 2013;68(4):417–424.
   PubMed Web of Science ®Google Scholar
• Theoharides TC, Valent P, Akin C. Mast cells, mastocytosis, and related disorders. N Engl J Med. 2015;373(2):163–172.
   PubMed Web of Science ®Google Scholar
• Weiler CR, Austen KF, Akin C, et al. AAAAI Mast Cell Disorders Committee Work Group Report: mast cell activation syndrome (MCAS) diagnosis and management. J Allergy Clin Immunol. 2019;144(4):883–896.
   PubMed Web of Science ®Google Scholar
• Valent P, Bonadonna P, Hartmann K, et al. Why the 20% + 2 tryptase formula is a diagnostic gold standard for severe systemic mast cell activation and mast cell activation syndrome. Int Arch Allergy Immunol. 2019;180(1):44–51.
   PubMed Web of Science ®Google Scholar
• Lim KH, 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
• Escribano L, Alvarez-Twose I, Sanchez-Munoz L, et al. Prognosis in adult indolent systemic mastocytosis: a long-term study of the Spanish Network on Mastocytosis in a series of 145 patients. J Allergy Clin Immunol. 2009;124(3):514–521.
   PubMed Web of Science ®Google Scholar
• Teodosio C, Garcia-Montero AC, Jara-Acevedo M, et al. An immature immunophenotype of bone marrow mast cells predicts for multilineage D816V KIT mutation in systemic mastocytosis. Leukemia. 2012;26(5):951–958.
   PubMed Web of Science ®Google Scholar
• Erben P, Schwaab J, Metzgeroth G, et al. The KIT D816V expressed allele burden for diagnosis and disease monitoring of systemic mastocytosis. Ann Hematol. 2014;93(1):81–88.
   PubMed Web of Science ®Google Scholar
• Jawhar M, Schwaab J, Hausmann D, et al. Splenomegaly, elevated alkaline phosphatase and mutations in the SRSF2/ASXL1/RUNX1 gene panel are strong adverse prognostic markers in patients with systemic mastocytosis. Leukemia. 2016;30(12):2342–2350.
   PubMed Web of Science ®Google Scholar
• Greiner G, Gurbisz M, Ratzinger F, et al. Molecular quantification of tissue disease burden is a new biomarker and independent predictor of survival in mastocytosis. Haematologica. 2019. DOI:10.3324/haematol.2019.217950
   PubMed Web of Science ®Google Scholar
• Pardanani A, Shah S, Mannelli F, et al. Mayo alliance prognostic system for mastocytosis: clinical and hybrid clinical-molecular models. Blood Adv. 2018;2(21):2964–2972.
   PubMed Web of Science ®Google Scholar
• Jawhar M, Schwaab J, Alvarez-Twose I, et al. MARS: Mutation-Adjusted Risk Score for advanced systemic mastocytosis. J Clin Oncol. 2019;37(31):2846–2856.
   PubMed Web of Science ®Google Scholar
• Sperr WR, Kundi M, Alvarez-Twose I, et al. International prognostic scoring system for mastocytosis (IPSM): a retrospective cohort study. Lancet Haematol. 2019;6(12):e638.
   PubMed Web of Science ®Google Scholar
• Traina F, Visconte V, Jankowska AM, et al. Single nucleotide polymorphism array lesions, TET2, DNMT3A, ASXL1 and CBL mutations are present in systemic mastocytosis. PloS One. 2012;7(8):e43090.
   PubMed Web of Science ®Google Scholar
• Hanssens K, Brenet F, Agopian J, et al. SRSF2-p95 hotspot mutation is highly associated with advanced forms of mastocytosis and mutations in epigenetic regulator genes. Haematologica. 2014;99(5):830–835.
   PubMed Web of Science ®Google Scholar
• Schwaab J, Schnittger S, Sotlar K, et al. Comprehensive mutational profiling in advanced systemic mastocytosis. Blood. 2013;122(14):2460–2466.
   PubMed Web of Science ®Google Scholar
• Jawhar M, Schwaab J, Meggendorfer M, et al. The clinical and molecular diversity of mast cell leukemia with or without associated hematologic neoplasm. Haematologica. 2017;102(6):1035–1043.
   PubMed Web of Science ®Google Scholar
• Tolar J, Tope WD, Neglia JP. Leukotriene-receptor inhibition for the treatment of systemic mastocytosis. N Engl J Med. 2004;350(7):735–736.
   PubMed Web of Science ®Google Scholar
• Broesby-Olsen S, Vestergaard H, Mortz CG, et al. Omalizumab prevents anaphylaxis and improves symptoms in systemic mastocytosis: efficacy and safety observations. Allergy. 2018;73:230–238.
   PubMed Web of Science ®Google Scholar
• Lemal R, Fouquet G, Terriou L, et al. Omalizumab therapy for mast cell-mediator symptoms in patients with ISM, CM, MMAS, and MCAS. J Allergy Clin Immunol Pract. 2019;7(7):2387–2395 e3.
   PubMed Web of Science ®Google Scholar
• Kluin-Nelemans HC, Oldhoff JM, Van Doormaal JJ, et al. Cladribine therapy for systemic mastocytosis. Blood. 2003;102(13):4270–4276.
   PubMed Web of Science ®Google Scholar
• Bohm A, Sonneck K, Gleixner KV, et al. In vitro and in vivo growth-inhibitory effects of cladribine on neoplastic mast cells exhibiting the imatinib-resistant KIT mutation D816V. Exp Hematol. 2010;38(9):744–755.
   PubMed Web of Science ®Google Scholar
• Barete S, Lortholary O, Damaj G, et al. Long-term efficacy and safety of cladribine (2-CdA) in adult patients with mastocytosis. Blood. 2015;126(8):1009–1016. quiz 1050.
   PubMed Web of Science ®Google Scholar
• Akin C. Cladribine for mastocytosis: benefits and risks. Blood. 2015;126(8):931–932.
   PubMed Web of Science ®Google Scholar
• Alstadhaug KB, Fykse Halstensen R, Odeh F. Progressive multifocal leukoencephalopathy in a patient with systemic mastocytosis treated with cladribine. J Clin Virol. 2017;88:17–20.
   PubMed Web of Science ®Google Scholar
• Krauth MT, Mirkina I, Herrmann H, et al. Midostaurin (PKC412) inhibits immunoglobulin E-dependent activation and mediator release in human blood basophils and mast cells [Research Support, Non-U.S. Gov't]. Clin Exp Allergy. 2009;39(11):1711–1720.
   PubMed Web of Science ®Google Scholar
• Valent P, Akin C, Hartmann K, et al. Midostaurin: a magic bullet that blocks mast cell expansion and activation. Ann Oncol. 2017;28(10):2367–2376.
   PubMed Web of Science ®Google Scholar
• van Anrooij B, Oude Elberink JNG, Span LFR, et al. Midostaurin in patients with indolent systemic mastocytosis: an open-label phase 2 trial. J Allergy Clin Immunol. 2018;142(3):1006–1008.
   PubMed Web of Science ®Google Scholar
• Georgin-Lavialle S, Lhermitte L, Suarez F, et al. Mast cell leukemia: identification of a new c-Kit mutation, dup(501-502), and response to masitinib, a c-Kit tyrosine kinase inhibitor. Eur J Haematol. 2012;89(1):47–52.
   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
• Gotlib J, Kluin-Nelemans HC, George TI, et al. Efficacy and safety of midostaurin in advanced systemic mastocytosis. N Engl J Med. 2016;374(26):2530–2541.
   PubMed Web of Science ®Google Scholar
• DeAngelo DJ, George TI, Linder A, et al. Efficacy and safety of midostaurin in patients with advanced systemic mastocytosis: 10-year median follow-up of a phase II trial. Leukemia. 2018;32(2):470–478.
   PubMed Web of Science ®Google Scholar
• Kim ES. Midostaurin: first global approval [Review]. Drugs. 2017;77(11):1251–1259.
   PubMed Web of Science ®Google Scholar
• DeAngelo DJ, Quiery AT, Radia D, et al. Clinical activity in a Phase 1 study of Blu-285, a potent, highly-selective inhibitor of KIT D816V in Advanced Systemic Mastocytosis (AdvSM). Blood. 2017;130(Suppl 1):2–2.
   PubMedGoogle Scholar
• Radia D, Deininger M, Gotlib J, et al. Avapritinib, a potent and selective inhibitor of KIT D816V, induces complete and durable responses in patients with advanced systemic mastocytosis. HemaSphere. 2019;3(Suppl 1):368.
   Google Scholar
• Jawhar M, Schwaab J, Naumann N, et al. Response and progression on midostaurin in advanced systemic mastocytosis: KIT D816V and other molecular markers. Blood. 2017;130(2):137–145.
   PubMed Web of Science ®Google Scholar
• Ustun C, Gotlib J, Popat U, et al. Consensus opinion on allogeneic hematopoietic cell transplantation in advanced systemic mastocytosis. Biol Blood Marrow Transplant. 2016;22(8):1348–1356.
   PubMed Web of Science ®Google Scholar