Fluorescence In Situ Hybridization (FISH) and Conventional Cytogenetics for Hematology and Oncology Diagnosis

Abstract

Over the past 35 years, cytogenetic analysis of malignant hematological disorders has been one of the most rapidly growing areas in cancer. More than 45,000 cytogenetically abnormal neoplastic disorders have been reported and the evidence accumulated clearly demonstrates that karyotype information privide both biological and significant clinical value. While improved cell culture methods and the application of chromosome banding techniques had advanced our understanding of disease-specific abnormalities, molecular cytogenetics has now made it possible to identify genes involved at translocation breakpoints in specific chromosomal rearrangements. This knowledge is at the forefront of our understanding of the molecular pathogenesis of cancer. The goal of this chapter is to illustrate specific cytogenetic events and to delineate molecular phenotypes, which are key to the diagnosis and prognosis of leukemia, lymphoma, breast cancer, bladder cancer, and sarcoma. Thus, the hypothesis put forward by Boveri at the turn of the century, namely, that an abnormal chromosome pattern is intimately associated with the malignant phenotype of the tumor cell has proved correct for many malignant disorders.