Diagnostik der chronischen myeloischen Leukämie - Charakteristisches Blutbild, Knochenmarkaspiration und Zytogenetik

Chronic myeloid leukemia (CML) is a disease of hematopoietic stem cells, arising from a translocation t(9;22)(q34;q11). This translocation leads to a juxtaposition of the ABL gene from chromosome 9 to the BCR gene from chromosome 22, resulting in a BCR-ABL fusion gene. Tiredness, loss in appetite or increase in the size of the liver and the spleen are constitutional symptoms derived from organ infiltration as a consequence of the uncontrolled proliferation of the leukemic cells. The initial diagnosis can be made on the basis of characteristic blood count and differential (excessive granulocytosis with typical left shift of granulopoiesis) if myelofibrosis and myelodysplasia have been excluded. Confirmation of diagnosis is obtained by cytogenetic identification of the Philadelphia chromosome by fluorescent-in-situ-hybridisation (FISH). The BCR-ABL transcripts are detected in peripheral blood or bone marrow cells qualitatively and quantitatively by reverse transcriptase PCR.