title: Clinical presentation and management practice of systemic mastocytosis. A survey on 460 Italian patients.
abstract: Systemic mastocytosis is a rare heterogeneous myeloproliferative neoplasm characterized by abnormal proliferation and activation of mast cells. We describe a large multicentre series of 460 adult patients with systemic mastocytosis, with a diagnosis based on WHO 2008 criteria, in a "real-life" setting of ten Italian centers with dedicated multidisciplinary programs. We included indolent forms with (n = 255) and without (n = 165) skin lesions, smouldering (n = 20), aggressive (n = 28), associated with other hematological diseases mastocytosis (n = 21) and mast cell leukemia (n = 1). This series was uniquely characterized by a substantial proportion of patients with low burden of neoplastic mast cells; notably, 38% of cases were diagnosed using only minor diagnostic criteria according to WHO 2008 classification, underlying the feasibility of early diagnosis where all diagnostic approaches are made available. This has particular clinical relevance for prevention of anaphylaxis manifestations, that were typically associated with indolent forms. In multivariate analysis, the most important features associated with shortened overall survival were disease subtype and age at diagnosis >60 years. Disease progression was correlated with mastocytosis subtype and thrombocytopenia. As many as 32% of patients with aggressive mastocytosis suffered from early evolution into acute leukemia. Overall, this study provides novel information about diagnostic approaches and current presentation of patients with SM and underlines the importance of networks and specialized centers to facilitate early diagnosis and prevent disease-associated manifestations. Am. J. Hematol. 91:692-699, 2016. © 2016 Wiley Periodicals, Inc.
authors.affiliation: CRIMM Center for Research and Innovation of Myeloproliferative Neoplasms, Azienda Ospedaliero Universitaria Careggi, Department of Experimental and Clinical Medicine, DENOTHE Excellence Center, University of Florence, Florence, Italy.
authors.forename: Lisa
authors.initials: L
authors.lastname: Pieri
authors.affiliation: Allergy Unit, Azienda Ospedaliera Universitaria Integrata of Verona, Verona, Italy.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Bonadonna
authors.affiliation: Department of Molecular Medicine, University of Pavia.|Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Elena
authors.affiliation: Institute of Hematology Seragnoli DIMES, University of Bologna, Bologna, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Papayannidis
authors.affiliation: Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, UOC Di Oncoematologia, Milano, Italy.
authors.forename: Federica Irene
authors.initials: FI
authors.lastname: Grifoni
authors.affiliation: Clinical Pathology Department, Azienda Unità Sanitaria Locale Della Romagna, Cesena, Italy.
authors.forename: Michela
authors.initials: M
authors.lastname: Rondoni
authors.affiliation: Department of Hematology, San Raffaele Hospital, Milano, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Girlanda
authors.affiliation: Allergy Unit, Ospedale S. Anna, Como, Italy.
authors.forename: Marina
authors.initials: M
authors.lastname: Mauro
authors.affiliation: Clinical Immunology and Allergoloy, University of Salerno, Salerno, Italy.
authors.forename: Diomira
authors.initials: D
authors.lastname: Magliacane
authors.affiliation: Hematology, Ospedale San Gerardo, Monza, Italy.
authors.forename: Elena Maria
authors.initials: EM
authors.lastname: Elli
authors.affiliation: Allergoloy and Clinical Immunology, Azienda Sanitaria Firenze, Florence, Italy.
authors.forename: Maria Loredana
authors.initials: ML
authors.lastname: Iorno
authors.affiliation: Internal Medicine Section, Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
authors.forename: Fabio
authors.initials: F
authors.lastname: Almerigogna
authors.affiliation: Dermatology Sect, Department of Translational Medicine and Surgery, University of Florence, Florence, Italy.
authors.forename: Federica
authors.initials: F
authors.lastname: Scarfì
authors.affiliation: Endocrinology Unit, Azienda Ospedaliera Universitaria Careggi, Florence, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Salerno
authors.affiliation: CRIMM Center for Research and Innovation of Myeloproliferative Neoplasms, Azienda Ospedaliero Universitaria Careggi, Department of Experimental and Clinical Medicine, DENOTHE Excellence Center, University of Florence, Florence, Italy.|University of Siena, Doctorate in genetic, oncology and clinical medicine.
authors.forename: Tiziana
authors.initials: T
authors.lastname: Fanelli
authors.affiliation: CRIMM Center for Research and Innovation of Myeloproliferative Neoplasms, Azienda Ospedaliero Universitaria Careggi, Department of Experimental and Clinical Medicine, DENOTHE Excellence Center, University of Florence, Florence, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Gesullo
authors.affiliation: CRIMM Center for Research and Innovation of Myeloproliferative Neoplasms, Azienda Ospedaliero Universitaria Careggi, Department of Experimental and Clinical Medicine, DENOTHE Excellence Center, University of Florence, Florence, Italy.|University of Siena, Doctorate in genetic, oncology and clinical medicine.
authors.forename: Giuditta
authors.initials: G
authors.lastname: Corbizi Fattori
authors.affiliation: Department of Medicine, Haematology Section, Azienda Ospedaliera Universitaria Integrata Di Verona, Verona, Italy.
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Bonifacio
authors.affiliation: Department of Medicine, Haematology Section, Azienda Ospedaliera Universitaria Integrata Di Verona, Verona, Italy.
authors.forename: Omar
authors.initials: O
authors.lastname: Perbellini
authors.affiliation: Department of Medicine, Haematology Section, Azienda Ospedaliera Universitaria Integrata Di Verona, Verona, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Artuso
authors.affiliation: Institute of Hematology Seragnoli DIMES, University of Bologna, Bologna, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Soverini
authors.affiliation: Institute of Hematology Seragnoli DIMES, University of Bologna, Bologna, Italy.
authors.forename: Caterina
authors.initials: C
authors.lastname: De Benedittis
authors.affiliation: Department of Medical and Surgical Physiopathology, Physiopathology of Transplant, Milano, Italy, University of Milano.
authors.forename: Simona
authors.initials: S
authors.lastname: Muratori
authors.affiliation: Internal Medicine, Clinic Allergology and Immunology, Ospedale Maggiore Policlinico, IRCCS Ca' Granda Foundation, Milano, Italy.
authors.forename: Valerio
authors.initials: V
authors.lastname: Pravettoni
authors.affiliation: Clinical Pathology Department, Azienda Unità Sanitaria Locale Della Romagna, Cesena, Italy.
authors.forename: Vittoria
authors.initials: V
authors.lastname: Cova
authors.affiliation: Internal Medicine and Rheumatology, Rimini Hospital, Rimini, Italy.
authors.forename: Gabriele
authors.initials: G
authors.lastname: Cortellini
authors.affiliation: Department of Hematology, San Raffaele Hospital, Milano, Italy.
authors.forename: Fabio
authors.initials: F
authors.lastname: Ciceri
authors.affiliation: Hematology and Transplantation Unit, IRCCS Ca' Granda Foundation, Ospedale Maggiore Policlinico and University of Milan, Milano, Italy.
authors.forename: Agostino
authors.initials: A
authors.lastname: Cortelezzi
authors.affiliation: Institute of Hematology Seragnoli DIMES, University of Bologna, Bologna, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Martinelli
authors.affiliation: Clinical Immunology and Allergoloy, University of Salerno, Salerno, Italy.
authors.forename: Massimo
authors.initials: M
authors.lastname: Triggiani
authors.affiliation: Department of Molecular Medicine, University of Pavia.|Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
authors.forename: Serena
authors.initials: S
authors.lastname: Merante
authors.affiliation: CRIMM Center for Research and Innovation of Myeloproliferative Neoplasms, Azienda Ospedaliero Universitaria Careggi, Department of Experimental and Clinical Medicine, DENOTHE Excellence Center, University of Florence, Florence, Italy.
authors.forename: Alessandro Maria
authors.initials: AM
authors.lastname: Vannucchi
authors.affiliation: Department of Medicine, Haematology Section, Azienda Ospedaliera Universitaria Integrata Di Verona, Verona, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: Zanotti
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D019468:Disease Management; D018450:Disease Progression; D042241:Early Diagnosis; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D034721:Mastocytosis, Systemic / Q000145:classification* / Q000175:diagnosis / Q000401:mortality; D008875:Middle Aged; D011379:Prognosis; D012189:Retrospective Studies; D011795:Surveys and Questionnaires; D015996:Survival Rate; D055815:Young Adult