All neoplasms have genetic abnormalities. Most neoplasms have visible nonrandom chromosome abnormalities. Interpretation of clonal chromosome anomalies and utilization of this knowledge can refine the histopathologic diagnosis of many tumors. The information gleaned from chromosome studies is in daily use by oncologists for patient care. The genetic data gathered by collaborative oncology groups advance chemotherapeutic regimens, which have, in turn, reduced mortality rates for many tumor types. The genetics of hematologic disorders has had a very significant clinical impact over the past several decades. The genetics of sarcomas, carcinomas, and central and peripheral nervous system tumors are used consistently today in pediatric diagnosis and management. There is an expanding influence of genetic information on the choice of therapeutic drugs for both adult and pediatric patients with solid tumors. Conventional cytogenetic analysis, fluorescence in situ hybridization (FISH) analysis, and now array CGH analysis of tumor tissues provide genetic data, which may improve the care and the therapeutics available for patients with benign and malignant neoplasms. This chapter discusses only those chromosomal abnormalities with a known impact on diagnosis, prognosis, or therapeutic response.
ASJC Scopus subject areas
- General Medicine
- General Biochemistry, Genetics and Molecular Biology