A case of aggressive systemic mastocytosis with bulky lymphadenopathy showing response to midostaurin.

Management of systemic mastocytosis is an emerging challenge which requires a multidisciplinary diagnostic approach and personalized treatment strategy. Midostaurin can rapidly reduce the disease burden, also in cladribine refractory cases.

A case report of systemic mastocytosis associated with multiple hematologic non-mast cell lineage diseases.

Systemic mastocytosis (SM) is a hematological malignancy characterized by extracutaneous infiltration by atypical mast cells. Together with indolent SM, aggressive SM, and mast cell leukemia, the World Health Organization (WHO) recognizes another major disease subgroup: SM with an associated hematological neoplasm, which is characterized by the presence of a concurrent neoplasm, more commonly, a chronic myelomonocytic leukemia. While KIT D816V is commonly regarded as the driver mutation, the clinical presentation of SM is extremely varied. Treatment of SM might not be simple, but now more specific therapies tailored toward prognostic subgroups of patients have been developed. Here, we report a detailed description of clinical management and biological features of a systemic mastocytocis case associated with multiple hematologic non-mast cell lineage diseases.

Clinical presentation and management practice of systemic mastocytosis. A survey on 460 Italian patients.

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.

[Role of measurement of nitric oxide in respiratory diseases]. / Ruolo della misurazione di ossido nitrico nelle malattie respiratorie.

Nitric oxide (NO) is a molecule with a homeostatic role in a number of physiological processes. Concerning respiratory diseases, exhaled nitric oxide (FE(NO)) is a marker of airway inflammation, and its measurement can be easily performed. To date, a large number of publications defined the performances of FE(NO). Studies on asthma attributed to FE(NO) an important role in diagnosis and especially in monitoring the effects of anti-inflammatory treatment, which label it as an "inflammometer" to be used as a guide in therapy algorithms. Less consistent results were thus far obtained in chronic obstructive lung disease, in which FE(NO) levels seem usually higher than in healthy subjects but lower than in asthma, unless an eosinophil inflammation is present, and in rhinosinusitis, where the levels of nasal NO (nNO) are low, probably because of a reduced NO flow into the nose due to mucosal swelling, while they increase after an effective treatment. Among other respiratory disorders, such as cystic fibrosis and primary ciliary dyskinesia, nNO levels are particularly low in the latter (possibly for the trapping and altered NO metabolism caused by dense secretions, and by decreased NO synthase activity) and suggest nNO as a good screening tool for such disease.