Rowley J D, Aster J C, Sklar J
Department of Medicine, University of Chicago, IL.
Arch Pathol Lab Med. 1993 Nov;117(11):1104-9.
Revolutionary advances in technology have enhanced our understanding of the genetic changes that occur in cancer cells. This article summarizes some of the basic features of these techniques and describes their application to the identification of specific types of genetic alterations in cells. The emphasis is on their use in obtaining information that is of diagnostic and prognostic importance. The techniques fall into two broad categories; the first is the direct analysis of the chromosome pattern in metaphase cells or the indirect assessment of chromosome abnormalities in interphase nuclei. The second general category involves the isolation of DNA, RNA, or protein from the tumor cells and the analysis of these components for abnormalities related to the presence, absence, or amplification of a specific gene or its products or other alterations, eg, those due to chromosome translocations. The techniques described in this article have broad applicability to medicine in general and some familiarity with these techniques is critical for the practice of modern medicine.