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Acute myeloid leukemia with myelodysplasia-related changes evolving from MDS-RAEB-1 or FROM MDS/MPN CMML-2?

Background: We present a case of rapid evolution of acute myeloid leukaemia with myelodysplasia-related changes (AML-MDC) previously diagnosed as myelodysplastic syndrome (MDS). Case: An asymptomatic male-61-year old patient with pancytopenia and persistent splenomegaly (13 cm) was admitted into ambulatory care unit. A diagnosis of MDS was performed according to clinical and laboratory findings. Bone marrow (BM) and peripheral blood (PB) cytology smear findings were concluded as MDS-RAEB 1 (myeloblast BM 7% ; PB 11%). BM trephine biopsy findings were estimated as MDS/MPN, most probably CMML-2 (blasts CD34 10%, CD117 15%). Patient was treated with erythrocyte transfusions and admitted to hospital for complete haematological diagnostic algorithm finished two months later with clinical, laboratory, cytogenetic and molecular findings as follows: splenomegaly up to 17 cm in diameter ; WBC1.49x109/L, RBC2.97x1012/L, Hb86 g/L, Plts154x109/L ; neu 0.62x109/L, ly 0.51x109/L, mono 0.36 x109/L. BM and PB cytology smear findings were concluded as AML, occurring from MDS (myeloblast BM 19–21% ; PB 5%). BM immunophenotype (flow cytometry / immunohistochemistry): AML (24% blasts). Cytogenetics: 47, XY, +8[20] / 46, XY [3]. Molecular analysis: not present FIP1L1-PDGFR ; NMP-ALK ; AML1-ETO ; PML-RAR Alpha ; CBFb-MYH11 ; BCR-ABL p190 ; BCR-ABL p210 ; FLT3ITD ; JAK2V617F. Conclusion: According to the literature this may be a case of AML-MDC with favourable evolution from MDS/MPN in advantage to MDS due to rapid evolution and disease features notwithstanding a number of PB monocytes in the later course of disease. In this case information regarding the mutational status of NPM1 may elucidate biology of disease and provide important prognostic information in the course of the disease.

Acute myeloid leukemia; myelodysplasia; MDS-RAEB-1; FROM MDS/MPN CMML-2?

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