Response to “Philadelphia chromosome?”

Philadelphia chromosome positive leukemia.

Philadelphia Chromosome Positive Childhood

In a 3-yr period, the Philadelphia chromosome (Ph’) was found in 4 of 43 children with acute lymphoblastic leukemia (ALL) in whom chromosomes were studied at diagnosis. The clinical, morphological, cytochemical, and immunologic findings in the Ph’-positive (Ph’ + ) cases were consistent with typical childhood ALL, indicating that identification of cases requires chromosome studies. A review of ...

The Philadelphia chromosome in leukemogenesis

The truncated chromosome 22 that results from the reciprocal translocation t(9;22)(q34;q11) is known as the Philadelphia chromosome (Ph) and is a hallmark of chronic myeloid leukemia (CML). In leukemia cells, Ph not only impairs the physiological signaling pathways but also disrupts genomic stability. This aberrant fusion gene encodes the breakpoint cluster region-proto-oncogene tyrosine-protei...

Persistence of chromosomal abnormalities additional to the Philadelphia chromosome after Philadelphia chromosome disappearance during imatinib therapy for chronic myeloid leukemia.

Five Philadelphia chromosome positive (Ph+) chronic myeloid leukemia (CML) patients with additional chromosome abnormalities at diagnosis have been followed during Imatinib therapy. In all, the Ph chromosome disappeared, while the 5 cases, additional abnormalities [dup(1); del(5), +8 (2 patients) and +14] persisted in the subsequent studies, performed over a period of 11 to 49 months, either al...

Philadelphia chromosome-positive leukemias: from basic mechanisms to molecular therapeutics.

The Philadelphia chromosome translocation (t(9;22)) results in the molecular juxtaposition of two genes, BCR and ABL, to form an aberrant BCR-ABL gene on chromosome 22. BCR-ABL is critical to the pathogenesis of chronic myelogenous leukemia and a subset of acute leukemias. The chimeric Bcr-Abl protein has constitutively elevated tyrosine phosphokinase activity. This abnormal enzymatic activatio...