OBJECTIVE: To present the implications of genetics, particularly of cytogenetic techniques, for the diagnosis and prognosis of leukemia. SOURCES: A survey of articles selected from MEDLINE, American Society of Hematology educational programs, the CAPES web portal, the National Comprehensive Cancer Network and textbook chapters. SUMMARY OF THE FINDINGS: Since the discovery in 1960 by Peter C. Nowel and David Hungerford of the 9:22 translocation (the Philadelphia chromosome), genetics has come to play an important role in hematology, in this case making it possible to diagnose chronic myeloid leukemia and opening doors to research avenues for the whole field of oncology. One point of great interest refers to the implications of these findings for the prognosis of a range of types of leukemia. In acute myeloid leukemia, the karyotype is of fundamental importance to postremission treatment decisions, and molecular factors determine the treatment of individuals with normal karyotypes. In chronic myeloid leukemia, clonal evolution is associated with progression to the blast crisis. Patients on imatinib who cease responding may have mutations on their ABL gene. Finally, in acute lymphoblastic leukemia, factors such as hyperdiploidy and t 12:21 are associated with good prognosis, whereas carriers of t 4:11 and t 9:22 are considered high risk patients. CONCLUSIONS: Genetics has come to stay as far as hematology and, in particular, the management of leukemia and its prognostic factors are concerned. These tests should always be carried out and the appropriate treatment adopted in the light of their results, so that optimal patient outcomes can be achieved.
Leukemia; cytogenetics; genetics; prognostic factors
