Acute megakaryoblastic leukaemia with extreme thrombocytosis and p190(bcr/abl)rearrangement.
Acute megakaryoblastic leukaemia (AML-M7) is an uncommon disease, composing 0.5-1.2% of newly diagnosed adult acute myeloid leukaemias (AML). It is characterised by higher incidence and complexity of cytogenetic abnormalities. We report a rare case of Philadelphia (Ph) chromosome-positive AML-M7, presenting with extreme thrombocytosis and having a poor outcome. The diagnosis was established on the basis of morphological and flow cytometry data for megakaryoblastic proliferation in the bone marrow. Cytogenetics revealed 47,XX,+8,t(9;22)(q34;q11), and p190(BCR-ABL)-rearrangement was detected. MDR1-gene overexpression was not demonstrated; however, the patient was resistant to therapy and died in 6 months. The reported case contributes to the overt heterogeneity of Ph-positive AMLs, which warrants further investigation and understanding.
Balatzenko
G
G
Laboratory of Cytogenetics and Molecular Biology, National Center of Haematology and Transfusiology, Sofia, Bulgaria.
Guenova
M
M
Zechev
J
J
Toshkov
S
S
D001854:Bone Marrow Cells / Q000166:cytology / Q000648:ultrastructure; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D003582:Cytogenetics; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D015321:Gene Rearrangement; D006801:Humans; D020014:K562 Cells; D007947:Leukemia, Megakaryoblastic, Acute / Q000097:blood / Q000150:complications* / Q000235:genetics*; D008875:Middle Aged; D010677:Philadelphia Chromosome; D012333:RNA, Messenger / Q000235:genetics; D013922:Thrombocytosis / Q000097:blood / Q000209:etiology*
D012333:RNA, Messenger; D016044:Fusion Proteins, bcr-abl