Chronic myelogenous leukemia: Laboratory diagnosis and monitoring

Abstract

Rapid developments have occurred both in laboratory medicine and in therapeutic interventions for the management of patients with chronic myelogenous leukemia (CML). With a wide array of laboratory tests available, selecting the appropriate test for a specific diagnostic or therapeutic setting has become increasingly difficult. In this review, we first discuss, from the point of view of laboratory medicine, the advantages and disadvantages of several commonly used laboratory assays, including cytogenetics, fluorescence in situ hybridization (FISH), and qualitative and quantitative reverse transcriptase-polymerase chain reaction (RT-PCR). We then discuss, from the point of view of clinical care, the test(s) of choice for the most common clinical scenarios, including diagnosis and monitoring of the therapeutic response and minimal residual disease in patients treated with different therapies. The purpose of this review is to help clinicians and laboratory physicians select appropriate tests for the diagnosis and monitoring of CML, with the ultimate goal of improving the cost-effective usage of clinical laboratories and improving patient care.

Early reduction of BCR-ABL mRNA transcript levels predicts cytogenetic response in chronic phase CML patients treated with imatinib after failure of interferon α

“…However, molecular methods of response determination, such as RT-PCR, are highly sensitive, quantitative, and can be performed on PB specimens that may allow easier and more frequent monitoring. 8,16,17 Quantitative RT-PCR methods have been evaluated to estimate residual disease and predict relapse after allogeneic 13,18,19 or autologous stem cell transplantation, 20,21 and IFN therapy. 6,22 The level of BCR-ABL fusion mRNA at singletime points correlates well with stage of the disease 13 and cytogenetic response.…”

Monitoring the response and course of chronic myeloid leukemia in the modern era of BCR-ABL tyrosine kinase inhibitors: practical advice on the use and interpretation of monitoring methods

“…[14][15][16][17][18][19][20][21][22][23][24][25] Molecular studies (ie, PCR) quantify the amount of disease with an increased sensitivity of up to 10 Ϫ8 . Better molecular responses may correlate with improved outcome.…”

Towards the Cure of CML by the Molecular Approach Strategy

“…Traditional FISH uses 5' BCR and 3' ABL fluorescent probes of different colours while more recent FISH reagents use 3-4 probes (D-FISH). Such probes can detect the variant translocations leading to Ph chromosome formation and are also associated with low false positive rates (Dewald et al, 1998;Wang et al, 2001;Landstrom & Tefferi, 2006;Sinclair et al, 1997;Seong et al, 1995). Interphase or hypermetaphase FISH can be performed on peripheral blood specimen or bone marrow aspirates, respectively.…”