TY - CHAP M1 - Book, Section TI - Cytogenetics and Genetic Abnormalities A1 - Godley, Lucy A. A1 - Sukhanova, Madina A1 - Raca, Gordana A1 - Le Beau, Michelle M. A2 - Kaushansky, Kenneth A2 - Lichtman, Marshall A. A2 - Prchal, Josef T. A2 - Levi, Marcel M. A2 - Press, Oliver W. A2 - Burns, Linda J. A2 - Caligiuri, Michael PY - 2015 T2 - Williams Hematology, 9e AB - SUMMARYCytogenetic and genetic analysis provides pathologists and clinicians with a powerful tool for the diagnosis and classification of hematologic malignant diseases. The detection of an acquired, somatic mutation establishes the diagnosis of a neoplastic disorder and rules out hyperplasia, dysplasia, or morphologic changes from toxic injury or vitamin deficiency. Specific cytogenetic and genetic abnormalities have been identified that are very closely, and sometimes uniquely, associated with morphologically distinct subsets of leukemia or lymphoma, enabling clinicians to predict their clinical course and likelihood of responding to particular treatments. The detection of one of these recurring abnormalities is helpful in establishing the diagnosis and adds information of prognostic importance. In many cases, the prognostic information derived from cytogenetic and genetic analysis is independent of that provided by other clinical features. Patients with favorable genetic prognostic features benefit from standard therapies with a well-known spectra of toxicities, whereas those with less-favorable clinical and cytogenetic or genetic characteristics may be better treated with more intensive or investigational therapies. Pretreatment cytogenetic analysis also can be useful in choosing between post-remission therapies that differ widely in cost, acute and chronic morbidity, and effectiveness. The appearance of new abnormalities in the karyotype of a patient under observation often signals clonal evolution and more aggressive behavior. The disappearance of a chromosomal abnormality present at diagnosis is an important indicator of complete remission following treatment, and its reappearance may herald disease recurrence. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accessmedicine.mhmedical.com/content.aspx?aid=1121089437 ER -