Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis.

Journal article

We studied patients with myeloid neoplasm associated with ringed sideroblasts and/or thrombocytosis. The combination of ringed sideroblasts 15% or greater and platelet count of 450 x 10(9)/L or greater was found in 19 subjects fulfilling the diagnostic criteria for refractory anemia with ringed sideroblasts (RARS) associated with marked thrombocytosis (RARS-T), and in 3 patients with primary myelofibrosis. JAK2 and MPL mutations were detected in circulating granulocytes and bone marrow CD34+ ...

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Authors: Malcovati, L; Della Porta, MG; Pietra, D; Boveri, E; Pellagatti, A

• Publication status: Published
• Journal: Blood
• Volume: 114
• Issue: 17
• Pages: 3538-3545
• Publication date: 2009-10-01
• DOI: 10.1182/blood-2009-05-222331
• EISSN: 1528-0020
• ISSN: 0006-4971
• Language: English
• Keywords: Humans; Middle Aged; Female; Janus Kinase 2; X Chromosome Inactivation; Male; Oligonucleotide Array Sequence Analysis; Receptors, Thrombopoietin; Granulocytes; Cells, Cultured; Gene Expression Profiling; T-Lymphocytes; Bone Marrow; Flow Cytometry; Adult; Platelet Count; Tumor Markers, Biological; Aged; Aged, 80 and over; Anemia, Refractory, with Excess of Blasts; Mutation; Thrombocytosis