ABSTRACT

Over the past 25 years, cytogenetic studies of the myeloid disorders have played a major role in the advancement of our knowledge of genetic and chromosomal abnormalities and their relationship to the development of ne­ oplastic disease. Due to the easy accessibility of specimens from blood or bone marrow, and the relatively uncomplicated karyotypic findings in this group of diseases compared to solid tumors, the myeloid disorders have provided a hotbed for new discoveries. A large number of specific, recurring structural or numerical abnormalities have been identified and conelated with sometimes specific and unique pathologic findings and important clin­ ical features associated with the myriad of myeloid diseases. More impor­ tant, however, recognition of the abnormalities has fostered the discovery of a long list of newly recognized genes, which have been identified through the molecular analysis of breakpoints involved in structural chromosomal changes. Expectations are high that understanding alterations in these in­ volved genes will elucidate mechanisms of malignant transformation, and the means to conect or counteract the genetic defects underlying the dis­ eases. Unfortunately, there still remains much to do before the present state of knowledge of chromosomes and genes is translated to new therapeutics.