Review: progress of cytogenetics in hematopoietic malignancies]

In 1960, Nowell and Hungerford found, for the first time, a minute chromosome at the metaphase in chronic myelocytic leukemia (CML) cells, which was called Philadelphia chromosome (9; 22 translocation) later. Ph1 chromosome was considered to be specific for the disease and was frequently used as an important marker for the definite diagnosis. In 1970s banding techniques revealed some other specific chromosome abnormalities, like 8; 14, 8; 21, and 15; 17 translocations, for acute leukemias. In 1980s, molecular-biology techniques were applied in the fields of leukemia research. As a result, many break point cluster regions were discovered in relation to the immunoglobulin chain genes and T cell receptor genes (Table 2). In this review, the specificity of chromosome abnormalities as well as genetic changes in types of leukemia is discussed.