Resulting derivative chromosome 22 is called Philadelphia chromosome (Ph). The underlying mechanisms and prognostic implications of these cytogenetic abnormalities are discussed.Ĭhronic myeloid leukemia (CML) is a disorder characterized by the formation of granulocytes in connection with a translocation involving chromosomes 9 and 22. The patient demonstrated a good response to nilotinib after imatinib failure while the hyperdiploid clone disappeared the T315I mutation remained during follow-up. The ratio of BCR-ABL/ABL expression in post nilotinib treatment was 0.07% on international scale. Our case revealed the presence of hyperdiploidy including multiple copies of the Ph chromosome, presence of b3a2 fusion transcript,T315I mutation in BCR-ABL KD in pre imatinib mesylate (IM) treatment. ResultsĪ complete cytogenetic and molecular cytogenetic analysis molecular biology methods such as quantitative reverse transcription polymerase chain reaction (RQ-PCR) and allele-specific oligonucleotide (ASO)-PCR and immunophenotypically confirmed CML in acceleration phase (AP). Even though hyperdiploidy is not a rare finding in advanced phase-CML, hyperdiploidy together with a T315I kinase domain (KD) mutation in the BCR-ABL gene has not yet been reported. During CML progression 60–80% of the cases acquire additional genetic changes. Chronic myeloid leukemia (CML) is genetically characterized by the occurrence of a reciprocal translocation t(9 22)(q34 q11), resulting in a BCR/ABL gene fusion on the derivative chromosome 22, i.e.
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