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Chronic myelocydc leukemia (CML) was initially described in 1845 and is
considered one of the first leukemias to be discovered. Diagnosis of CML was
dramatically improved with the discovery of the Philadelphia chromosome by
Nowell and Hungerford in 1960. However, the rudiments of our understanding of
the molecular cause of CML began in 1973 when Janet Rowley discovered that the
Philadelphia chromosome is a reciprocal translocation between chromosomes 9 and
22. The leukemogenic mechanisms of CML were hypothesized 20 years later when it
was discovered that the t(9;22) translocation produced a fusion gene involving
the BCR gene from chromosome 9 and the ABL protooncogene from chromosome 22.
Multiple breakpoints in BCR produce fusion genes that are translated into
chimeric protein products of different lengths that are associated with
different leukemic subtypes.
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