title: Chronic myeloid leukemia: current application of cytogenetics and molecular testing for diagnosis and treatment.
abstract: Chronic myeloid leukemia provides an illustrative disease model for both molecular pathogenesis of cancer and rational drug therapy. Chronic myeloid leukemia is a clonal stem cell disease caused by an acquired somatic mutation that fuses, through chromosomal translocation, the abl and bcr genes on chromosomes 9 and 22, respectively. The bcr/abl gene product is an oncogenic protein that localizes to the cytoskeleton and displays an up-regulated tyrosine kinase activity that leads to the recruitment of downstream effectors of cell proliferation and cell survival and consequently cell transformation. Such molecular information on pathogenesis has facilitated accurate diagnosis, the development of pathogenesis-targeted drug therapy, and most recently the application of molecular techniques for monitoring minimal residual disease after successful therapy. These issues are discussed within the context of clinical practice.
authors.affiliation: Department of Internal Medicine and Division of Hematology, Mayo Clinic College of Medicine, Rochester, Minn 55905, USA.
authors.forename: Ayalew
authors.initials: A
authors.lastname: Tefferi
authors.forename: Gordon W
authors.initials: GW
authors.lastname: Dewald
authors.forename: Mark L
authors.initials: ML
authors.lastname: Litzow
authors.forename: Jorge
authors.initials: J
authors.lastname: Cortes
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Mauro
authors.forename: Moshe
authors.initials: M
authors.lastname: Talpaz
authors.forename: Hagop M
authors.initials: HM
authors.lastname: Kantarjian
mesh_terms: D000964:Antimetabolites, Antineoplastic / Q000627:therapeutic use; D000970:Antineoplastic Agents / Q000627:therapeutic use; D001549:Benzamides; D003561:Cytarabine / Q000627:therapeutic use; D016313:Genes, abl / Q000235:genetics; D006801:Humans; D000068877:Imatinib Mesylate; D017404:In Situ Hybridization, Fluorescence; D016898:Interferon-alpha / Q000627:therapeutic use; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D018365:Neoplasm, Residual / Q000175:diagnosis; D010677:Philadelphia Chromosome; D010879:Piperazines / Q000627:therapeutic use; D011379:Prognosis; D011743:Pyrimidines / Q000627:therapeutic use; D020133:Reverse Transcriptase Polymerase Chain Reaction; D033581:Stem Cell Transplantation; D016896:Treatment Outcome
chemical_list: D000964:Antimetabolites, Antineoplastic; D000970:Antineoplastic Agents; D001549:Benzamides; D016898:Interferon-alpha; D010879:Piperazines; D011743:Pyrimidines; D003561:Cytarabine; D000068877:Imatinib Mesylate