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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.
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]
The chromosome that is labeled with green and red spots (upper left) is the one where the rearrangement is present. Fluorescence in situ hybridization (FISH) is a molecular cytogenetic technique that uses fluorescent probes that bind to only particular parts of a nucleic acid sequence with a high degree of sequence complementarity.
This abnormal chromosome was dubbed the Philadelphia chromosome - as both scientists were doing their research in Philadelphia, Pennsylvania. Thirteen years later, with the development of more advanced techniques, the abnormal chromosome was shown by Janet Rowley to be the result of a translocation of chromosomes 9 and 22. Identification of the ...
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.
Philadelphia chromosomes are common in myeloid leukemia cells. After its discovery, subsequent experiments have resulted in the HAP1 cell line. HAP1 has lost the extra copy of chromosome 8 and has a fragment of chromosome 15 that is about 30-megabases long and encompasses about 330 genes. [4] It is attached to the long arm of Chromosome 19.
Conventionally, a leukocytosis exceeding 50,000 WBC/mm 3 with a significant increase in early neutrophil precursors is referred to as a leukemoid reaction. [2] The peripheral blood smear may show myelocytes, metamyelocytes, promyelocytes, and rarely myeloblasts; however, there is a mixture of early mature neutrophil precursors, in contrast to the immature forms typically seen in acute leukemia.