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The Philadelphia chromosome or Philadelphia translocation (Ph) is a specific genetic abnormality in chromosome 22 of leukemia cancer cells (particularly chronic myeloid leukemia (CML) cells). This chromosome is defective and unusually short because of reciprocal translocation , t(9;22)(q34;q11), of genetic material between chromosome 9 and ...
As a result of this translocation, the chromosome looks smaller than its homologue chromosome, and this appearance is known as the Philadelphia chromosome chromosomal abnormality. Thus, this abnormality can be detected by routine cytogenetics, and the involved genes BCR-ABL1 can be detected by fluorescent in situ hybridization, as well as by PCR.
David A. Hungerford (1927–1993) was an American cancer researcher and co-discoverer of the Philadelphia chromosome. [1] This discovery was the first association between a genetic abnormality and a type of cancer, [2] and it changed the direction of cancer research and paved the way for the development of targeted cancer therapies.
The first fusion gene [1] was described in cancer cells in the early 1980s. The finding was based on the discovery in 1960 by Peter Nowell and David Hungerford in Philadelphia of a small abnormal marker chromosome in patients with chronic myeloid leukemia—the first consistent chromosome abnormality detected in a human malignancy, later designated the Philadelphia chromosome. [3]
This abnormality was discovered by Peter Nowell in 1960 [1] and is a consequence of fusion between the Abelson tyrosine kinase gene at chromosome 9 and the break point cluster gene at chromosome 22, resulting in a chimeric oncogene and a constitutively active Bcr-Abl tyrosine kinase that has been implicated in the pathogenesis of CML. Compounds ...
The presence of the Philadelphia chromosome can help predict how the cancer will progress and provides a target for molecular therapies. Emanuel syndrome is a translocation of chromosomes 11 and 22. Originally known as supernumerary der (22) syndrome, it occurs when an individual has an extra chromosome composed of pieces of the 11th and 22nd ...
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In addition to the Philadelphia chromosome they also exhibit a second reciprocal translocation between the long arm of chromosome 15 with chromosome 17. [1] Two sub-lines are available which express MHC class-I A2 [9] and A3. [10] K562 cells are part of the NCI-60 cancer cell line panel used by the National Cancer Institute. [11]
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