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BC: Articoli scritti da A. Di Palma

Un caso di linfoadenopatia, epatosplenomegalia e triptasi elevata
A case of lymphadenopathy, hepatosplenomegaly and elevated serum tryptase level
<p>A case of lymphadenopathy, hepatosplenomegaly and elevated serum tryptase level. Mastocytosis is a rare clonal disease characterized by neoplastic proliferation of mast cells in one or more organs, frequently skin and bone marrow. Diagnosis and classification of mastocytosis is based on the identification of neoplastic mast cells in according to the morphological, immunophenotypical and/or molecular criteria established by the WHO. For the diagnosis, serum levels of the tryptase which correlate with quantity and activity of mast cells is particulary useful. This case reports about a 60-year-old man with hepatosplenomegaly, modest monoclonal component, reactive lymph node hyperplasia and moderate macrocytic anemia (haemoglobin:129 gr/L). Bone marrow aspiration shows areas of infiltration of atypical mast cells type II and rarely type I with aberrant immunophenotype: CD45++CD117++CD2+CD25+. The tryptase concentration is significantly increased. According to WHO 2008 criteria, diagnosis of systemic mastocytosis is made. Early diagnosis of mastocytosis is pivotal because immunotherapy is often required to reduce the risk of allergic reactions or major bone complications.</p>
Biochimica Clinica ; 43(1) e1-e3
Casi Clinici - Clinic Case
 
Alterazioni morfologiche dei megacariociti nelle sindromi mielodisplastiche associate a delezione del braccio lungo del cromosoma 5 [del(5q)], 7 [del(7q)] e 20 [del(20q)] e monosomia del cromosoma 7
Morphological alterations of megakaryocytes in myelodysplastic syndromes with del(5q), del(20q), -7 and del(7q)
<p>Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematopoietic stem cell disorders&nbsp;characterized by ineffective and inefficient hematopoiesis and a high risk of progression to acute myeloid leukemia.&nbsp;The MDS diagnosis is based on morphological evaluation of dysplasia. The choice of therapy depends on the&nbsp;prognostic stratification that is based on peripheral number of cytopenias, on the percentage of blasts and on&nbsp;karyotype according to the criteria IPSS (International Prognostic Scoring System). Some aspects of megakaryocyte&nbsp;dysplasia correlate with specific chromosomal abnormalities. We evaluated morphological characteristics of&nbsp;megakaryocytes in bone marrow of 28 patients with MDS presenting a complex karyotype, in which at least one of&nbsp;the following anomalies was present: -7, del(7q), del(5q) and del(20q). Megakaryocyte dysplasia was confirmed on&nbsp;at least 30 elements for each sample according to 2008 WHO criteria. In MDS with del(5q), megakaryocytes were&nbsp;slightly smaller with an eccentric and not lobed nucleus. Monosomy 7 was associated with evidence of&nbsp;micromegakaryocytes and a negative prognostic significance. Isolated deletion of the 20q was associated with&nbsp;dysmorphic megakaryocytes and has favorable prognosis, especially when at diagnosis this alteration is isolated and&nbsp;it has been recently associated with refractory thrombocytopenia. In summary, we showed that each of the&nbsp;considered genetic alterations was associated with a specific megakaryocytic morphology.</p>
Biochimica Clinica ; 40(3) 229-233
Contributi scientifici - Scientific Papers