Background: Patients with chronic idiopathic myelofibrosis (CIMF) usually present with anaemia. Treatment is often palliative and the majority of patients receive regular red blood cell (RBC) transfusions. Although recombinant human erythropoietin (rhu-EPO) has been proved effective for the treatment of anaemia in several chronic diseases, including haematological malignancies, its role in the treatment of the anaemia in CIMF is not well established. We report the beneficial effect of rhu-EPO administration in 20 patients with CIMF and discuss the parameters predicting favourable response. Patients: Twenty patients with CIMF (9 women and 11 men) regularly treated with supportive RBC transfusions were included in the study. The median age was 70 years (range 45–81 years). Rhu-EPO, 10,000 U, was given subcutaneously 3 times a week. The median duration of therapy was 83 months, ranging from 13 to 87 months. Results: Treatment was considered effective if haemoglobin levels increased over 2 g/dl within 12 weeks after enrolment or the RBC transfusion requirements were reduced by 50% within the same interval. Twelve patients (60%) responded to therapy. Responders were mainly female, had smaller spleen size (p = 0.024), low RBC transfusion requirements (≤1–2 units per month), and significantly lower endogenous serum erythropoietin (EPO) and β2-microglobulin (β2-M) levels when compared with non-responders (p < 0.0001 and 0.00001, respectively). Treatment was well tolerated and none of the patients was withdrawn from the treatment protocol because of side effects. Conclusions: Rhu-EPO administration is an effective, safe and well-tolerated treatment for patients with CIMF and anaemia leading to a significant reduction in RBC transfusion requirements. Factors predicting favourable response are low endogenous EPO and β2-M serum levels and slight to moderate splenomegaly.
Novel therapeutic approaches with molecular agents such as rituximab may assist in treatment of considerably severe infectious pathogen-induced autoimmune hemolytic anemia that is refractory to first-line therapy.
Cytogenetic abnormalities play an important role in diagnosis, classification and prognosis in acute myeloid leukemia (AML). Nevertheless, several chromosome abnormalities have not been completely determined, and their prognostic significance is currently unknown due to their low incidence and the sporadic limited data. We report a case of AML-M2 with a novel, nonrandom translocation t(5;18)(q35;q21) in order to clarify the clinical features and outcome of these patients which could be advisable for prognostic and therapeutic purposes. This translocation has been reported only once in AML. Our patient received intensive chemotherapy, but he achieved a complete remission only initially. Eighteen months post diagnosis, t(3;12)(p23;p13) was detected as a secondary abnormality to t(5;18)(q35;q21) in the progression of the disease. FISH studies confirmed the reciprocal t(5;18)(q35;q21) and demonstrated a rearrangement of ETV6 gene as a consequence of t(3;12)(p23;p13). The patient died a few days later. In conclusion, t(5;18)(q35;q21) is a rare but nonrandom abnormality in AML, found in FAB M2 subtype, possibly associated with a rather poor prognosis, while t(3;12)(p23;p13) seems to contribute to the progression of the disease. The publication of rare, nonrandom chromosome abnormalities such as t(5;18)(q35;q21) contribute to the identification of the whole spectrum of cytogenetic abnormalities in AML and their prognostic significance.
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