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In the study described herein, Ph chromosome was detected in 91.
Moreover, further studies correlating expression patterns of various Ph chromosome transcripts with clinical parameters (such as disease progression and patients' outcome) would further delineate the role of detecting such transcripts in CML patients.
STI571 or Imatinib mesylate: Inhibits proliferation and induces apoptosis by inhibiting tyrosine kinase activity in cells positive for BCR/ABL and fresh leukemic cells in chronic myelogenous leukemia (CML) that is positive for the Ph chromosome (7)
A total of 77 patients (66 with ET and 11 with PMF) who were followed between 1980 and 2010 and were diagnosed with MPN according to the World Health Organization (WHO) criteria [11, and were negative for the Ph chromosome and/or the BCR-ABL fusion gene, were included in the study.
Disappearance of the Ph chromosome and blood counts returning to normal have been reported in many cases.
In 5%-10% of cases with morphology typical of CML, cytogenetics fails to detect the Ph chromosome, whereas bcr gene rearrangement positivity establishes the diagnosis of CML, with all its therapeutic and prognostic implications, and represents the only diagnostic modality.
9] It is not possible to determine if these complex genetic translocations represent clonal evolution or a unique, initial presentation variant of the Ph chromosome.
The Ph chromosome is the result of a translocation between two genes, which brings together the BCR (breakpoint cluster region) gene on chromosome 22 and the proto-oncogene ABL (Ableson leukemia virus) on chromosome 9.
Here, we present an unusual ALL case with a full karyotype showing an additional X chromosome, chromosome 5 and a Ph chromosome in the bone marrow, and we discuss the outcomes and the management of these rare chromosomal abnormalities.
16 cases (23%) were found to have deletions on the rearranged chromosomes, 14 of which had deletions on der(9), and 2 of which had deletions on der(22), the Ph chromosome.
90 Ph chromosomes (+) 16 (88%) Characteristics Hydroxyurea (n=15) Male 7 (46%) Female 8(54%) Mean age (yr) 33.