title: Laboratory tools for diagnosis and monitoring response in patients with chronic myeloid leukemia.
abstract: Chronic myeloid leukemia (CML) is a clonal hematological disease that represents 15-20% of all adult leukemia cases. The study and treatment of CML has contributed pivotal advances to translational medicine and cancer therapy. The discovery that a single chromosomal abnormality, the Philadelphia (Ph) chromosome, is responsible for the etiology of this disease was a milestone for treating and understanding CML. Subsequently, CML became the first disease for which allogeneic bone marrow transplantation is the treatment of choice. Currently, CML is one of the few diseases where treatment targeted against the chromosomal abnormality is the sole frontline therapy for newly diagnosed patients. The use of directed therapy for CML challenged disease monitoring during treatment and led to the development of definitions that document response and predict relapse sooner than the former routine methods. These methods relied on classical cytogenetics through molecular cytogenetics (FISH) and, finally, on molecular monitoring assays. This review discusses the laboratory tools used for diagnosing CML, for monitoring during treatment, and for assessing remission or relapse. The advantages and disadvantages of each test, the common definition of response levels, and the efforts to standardize molecular monitoring for CML patient management are discussed.
authors.affiliation: Hematology Laboratory, Sheba Medical Center, Tel Hashomer, Israel. Tali.tohami@gmail.com
authors.forename: Tali
authors.initials: T
authors.lastname: Tohami
authors.forename: Arnon
authors.initials: A
authors.lastname: Nagler
authors.forename: Ninette
authors.initials: N
authors.lastname: Amariglio
mesh_terms: D019411:Clinical Laboratory Techniques / Q000379:methods*; D003582:Cytogenetics / Q000379:methods; D016044:Fusion Proteins, bcr-abl / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000175:diagnosis* / Q000188:drug therapy; D008991:Monitoring, Physiologic / Q000379:methods*; D009154:Mutation
chemical_list: D016044:Fusion Proteins, bcr-abl