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The World Health Organization (WHO) classification of tumors of hematopoietic and lymphoid tissues (2001) defined a provisional entity named refractory anemia with ringed sideroblasts associated to marked thrombocytosis (RARS-MT). Diagnosis of RARS-MT requires more than 15% of ringed sideroblasts in bone marrow aspirate and the existence of a thrombocytosis in blood, with a platelet count above 600 x 10(9)/L. Nevertheless, controversy exists regarding this platelet count "cut-off" value and, when RARS-MT was defined, the JAK2 mutation and its importance in the study of myeloproliferative disorders was unknown. We present the results of a Spanish retrospective multicentric study, which includes 76 cases of RARS with associated thrombocytosis (platelet count above 400 x 10(9)/L) at diagnosis (RARS-T), 36 of them with a platelet count above 600 x 10(9)/L. Our aim was to analyze their clinical, analytical and morphological characteristics, and to establish correlations with the JAK2 mutational status. [ABSTRACT FROM AUTHOR]

A case study of a male patient with early infantile galactosialidosis and the identification of a novel mutation in CTSA. Topics discussed include observation of an increase in abdominal volume with abdominal distension, cutis marmorata, bilateral hydrocele and high blood pressure; clinical, biochemical and nutritional assessment performed; and the absence of GLB1 activity confirmed the diagnosis of galactosialidosis in leukocytes.

The article describes the case of a 61-year-old woman diagnosed with myeloid sarcoma associated with acute promyelocytic leukaemia (APL) with neuromeningeal infiltration. It outlines the symptoms presented by the patient that led to the diagnosis of myeloid sarcoma. Information is presented on how the patient was diagnosed with APL months after her myeloid sarcoma diagnosis.