The Italian Mastocytosis Registry: 6-year experience from a hospital-based registry.

AIM We collected 'real-life' data on the management of patients with mastocytosis in the Italian Mastocytosis Registry. METHODS Six hundred patients diagnosed with mastocytosis between 1974 and 2014 were included from 19 centers. RESULTS Among adults (n = 401); 156 (38.9%) patients were diagnosed with systemic mastocytosis. In 212 adults, no bone marrow studies were performed resulting in a provisional diagnosis of mastocytosis of the skin. This diagnosis was most frequently established in nonhematologic centers. In total, 182/184 pediatric patients had cutaneous mastocytosis. We confirmed that in the most patients with systemic mastocytosis, serum tryptase levels were >20 ng/ml and KIT D816V was detectable. CONCLUSION The Italian Mastocytosis Registry revealed some center-specific approaches for diagnosis and therapy. Epidemiological evidence on this condition is provided.

[1]  P. Valent,et al.  Mastocytosis: 2016 updated WHO classification and novel emerging treatment concepts. , 2017, Blood.

[2]  G. Nilsson,et al.  Advances in the Classification and Treatment of Mastocytosis: Current Status and Outlook toward the Future. , 2017, Cancer research.

[3]  M. Triggiani,et al.  Clinical presentation and management practice of systemic mastocytosis. A survey on 460 Italian patients , 2016, American journal of hematology.

[4]  B. Sander,et al.  Multidisciplinary Management of Mastocytosis: Nordic Expert Group Consensus. , 2016, Acta dermato-venereologica.

[5]  B. Grosbois,et al.  Mastocytosis among elderly patients , 2016, Medicine.

[6]  W. Hofmann,et al.  Impact of centralized evaluation of bone marrow histology in systemic mastocytosis , 2016, European journal of clinical investigation.

[7]  A. Órfão,et al.  Diagnosis and classification of mastocytosis in non‐specialized versus reference centres: a Spanish Network on Mastocytosis (REMA) study on 122 patients , 2016, British journal of haematology.

[8]  Massimo Triggiani,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. , 2016, The Journal of allergy and clinical immunology.

[9]  P. Valent Diagnosis and management of mastocytosis: an emerging challenge in applied hematology. , 2015, Hematology. American Society of Hematology. Education Program.

[10]  C. Bodemer,et al.  Paediatric mastocytosis: a systematic review of 1747 cases , 2015, The British journal of dermatology.

[11]  A. Pardanani Systemic mastocytosis in adults: 2015 update on diagnosis, risk stratification, and management , 2015, American journal of hematology/oncology.

[12]  M. Triggiani,et al.  KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis , 2015, Leukemia.

[13]  C. Bindslev‐Jensen,et al.  Epidemiology of systemic mastocytosis in Denmark , 2014, British journal of haematology.

[14]  C. Bindslev‐Jensen,et al.  Sensitive KIT D816V mutation analysis of blood as a diagnostic test in mastocytosis , 2014, American journal of hematology.

[15]  A. Órfão,et al.  Nonaggressive systemic mastocytosis (SM) without skin lesions associated with insect-induced anaphylaxis shows unique features versus other indolent SM. , 2014, The Journal of allergy and clinical immunology.

[16]  A. Pardanani,et al.  Systemic mastocytosis in adults: 2012 Update on diagnosis, risk stratification, and management , 2012, American journal of hematology.

[17]  A. Pardanani How I treat patients with indolent and smoldering mastocytosis (rare conditions but difficult to manage). , 2013, Blood.

[18]  P. Valent,et al.  Mast cell activation syndromes: definition and classification , 2013, Allergy.

[19]  M. Triggiani,et al.  Definitions, Criteria and Global Classification of Mast Cell Disorders with Special Reference to Mast Cell Activation Syndromes: A Consensus Proposal , 2011, International Archives of Allergy and Immunology.

[20]  M. Chilosi,et al.  Isolated bone marrow mastocytosis: an underestimated subvariant of indolent systemic mastocytosis , 2011, Haematologica.

[21]  P. Mulder,et al.  Serum tryptase and SCORMA (SCORing MAstocytosis) Index as disease severity parameters in childhood and adult cutaneous mastocytosis , 2009, Clinical and experimental dermatology.

[22]  M. Triggiani,et al.  Standards and standardization in mastocytosis: Consensus Statements on Diagnostics, Treatment Recommendations and Response Criteria , 2007, European journal of clinical investigation.

[23]  K. Lennert,et al.  Diagnostic criteria and classification of mastocytosis: a consensus proposal. , 2001, Leukemia research.

[24]  Y. Suzuki,et al.  Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder. , 1995, Proceedings of the National Academy of Sciences of the United States of America.