Abstract
Diagnosis of Chronic myeloid leukemia (CML), a myeloproliferative neoplasia, as well as the assessment of evolutive phase and prognostic score demands: 1) a clinical examination with spleen measurement; 2) blood counts showing hyperleucocytosis with basophilia and immature granulocytic cells at various stages of differentiation; 3) a bone marrow aspirate exhibiting excess of cells belonging to the granulocytic lineage; 4) a karyotype and/or FISH identifying the Philadelphia chromosome, a (9;22) translocation, and/or the fusion gene BCR-ABL1, which codes for the tyrosinekinase protein responsible for the disease; and 5) a polymerase chain reaction (PCR) characterizing the BCR-ABL1 fusion transcript both on qualitative and quantitative basis.
Résumé
Le diagnostic de la néoplasie myéloproliférative que représente la LMC, ainsi que la détermination de sa phase évolutive et de son score pronostique nécessitent: 1) un examen clinique mesurant l’éventuelle splénomégalie; 2) un hémogramme retrouvant une hyperleucocytose avec basophilie et myélémie harmonieuse; 3) unmyélogramme montrant une hyperplasie granulocytaire; 4) un caryotype médullaire et/ou FISH identifiant le chromosome de Philadelphie par translocation (9;22) et/ou le gène de fusion BCR-ABL1 codant pour la protéine tyrosine-kinase à l’origine de la maladie; 5) un polymerase chain reaction (PCR) caractérisant qualitativement et quantitativement le transcrit de fusion BCR-ABL1.
Similar content being viewed by others
Références
Baccarani M, Saglio G, Goldman J, et al. (2006) Evolving concepts in the management of chronic myeloid leukemia: recommendations from an expert panel on behalf of the European LeukemiaNet. Blood 108: 1809–1820
Breccia M, Cannella L, Diverio D, et al. (2008) Isolated thrombocytosis as first sign of chronic myeloid leukemia with e6a2 BCR/ABL fusion transcript, JAK2 negativity and complete response to imatinib. Leuk Res 32(1): 177–180
Brenner H, Gondos A, Pulte D (2008) Recent trends in long-term survival of patients with chronic myelocytic leukemia: disclosing the impact of advances in therapy on the population level. Haematologica 93(10): 1544–1549
Burmeister T, Reinhardt R (2008) A multiplex PCR for improved detection of typical and atypical BCR-ABL fusion transcripts. Leuk Res 32(4): 579–585
Christoforidis JB, DeAngelo DJ, D’Amico DJ (2003) Resolution of leukemic retinopathy following treatment with imatinib mesylate for chronic myelogenous leukemia. Am J Ophthalmol 135(3): 398–400
Corm S, Roche L, Micol JB, et al. (2011) Changes in the dynamics of the excess mortality rate in chronic phase-chronic myeloid leukaemia over 1990-2007: a population study. Blood 118(16): 4331–4337
Daley G, Van Etten R, Baltimore D (1990) Induction of chronic myelogenous leukemia in mice by the P210bcr/abl gene of the Philadelphia chromosome. Science 247: 824–830
Druker B, Talpaz M, Resta D, et al. (2001) Efficacy and safety of a specific inhibitor of the BCR-ABL tyrosine-kinase in chronic myeloid leukemia. N Engl J Med 344: 1031–1037
Garypidou V, Vakalopoulou S, Dimitriadis D, et al. (2004) Incidence of pulmonary hypertension in patients with chronic myeloproliferative disorders. Haematologica 89(2): 245–246
Goldman J, Melo J (2003) Chronic myeloid leukemia: advances in biology and new approaches to treatment. N Engl J Med 349: 1451–1464
Hasford J, Baccarani M, Hoffmann V, et al. (2011) Predicting complete cytogenetic response and subsequent progression-free survival in 2,060 patients with CML on imatinib treatment: the EUTOS score. Blood 118(3): 686–692
Hasford J, Pfirrmann M, Hehlmann R, et al. (1998) A new prognostic score for survival of patients with chronic myeloid leukemia treated with interferon alfa. Writing Committee for the Collaborative CML Prognostic Factors Project Group. J Natl Cancer Inst 90(11): 850–858
Heisterkamp N, Jenster G, ten Hoeve J, et al (1990) Acute leukaemia in BCR/ABL transgenic mice. Nature 344: 251–253
Heisterkamp N, Stephenson J, Groffen J, et al. (1983) Localization of the c-ab1 oncogene adjacent to a translocation break point in chronic myelocytic leukaemia. Nature 306: 239–242
Lugo T, Pendergast A, Muller A, Witte O (1990) Tyrosine-kinase activity and transformation potency of BCR-ABL oncogene products. Sience 247: 1079–1082
Millot F, Traore P, Guilhot J, et al. (2005) Clinical and biological features at diagnosis in 40 children with chronic myeloid leukemia. Pediatrics 116(1): 140–143
Nowell P, Hungerford D (1960) A minute chromosome in human chronic granulocytic leukemia. Science 132: 1497
Petitti DB, Kipp H (1986) The leukocyte count: associations with intensity of smoking and persistence of effect after quitting. Am J Epidemiol 123(1): 89–95
Rodgers R, Latif Z, Copland M (2012) How I manage priapism in chronicmyeloid leukaemia patients. Br J Haematol 158(2): 155–164
Rowley J (1973) A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining. Nature 243: 290–293
Shtivelman E, Lifshitz B, Gale R, Canaani E (1985) Fused transcript of ABL and BCR genes in chronic myelogenous leukaemia. Nature 315: 550–554
Sokal JE, Cox EB, Baccarani M, et al. (1994) Prognostic discrimination in “ good-risk” chronic granulocytic leukemia. Blood 63: 789–799
Swerdlow S, Campo E, Harris NL, et al. (2008) WHO (World Health Organization) Classification of Tumours of Haematopoietic and Lymphoid Tissue. International Agency for Research on Cancer
Tefferi A, Vardiman JW (2008) Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and point-of-care diagnostic algorithms. Leukemia 22(1): 14–22
van Dongen J, Macintyre E, Gabert J, et al. (1999): Standardized RT-PCR analysis of fusion gene transcripts from chromosome aberrations in acute leukemia for detection of minimal residual disease. Report of the BIOMED-1 Concerted Action: investigation of minimal residual disease in acute leukemia. Leukemia 13: 1901–1928
Vardiman J, Thiele J, Arber D, et al. (2009): The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood 114: 937–951
Vlaanderen J, Lan Q, Kromhout H, et al. (2012) Occupational benzene exposure and the risk of chronic myeloid leukemia: a meta-analysis of cohort studies incorporating study quality dimensions. Am J Ind Med 55(9): 779–785
Weerkamp F, Dekking E, Ng Y, et al. (2009) Flow cytometric immunobead assay for the detection of BCR-ABL fusion proteins in leukemia patients. Leukemia 23: 1106–1117
Young JA (2011) Epidemiology and management of infectious complications in contemporary management of chronic leukemias. Infect Disord Drug Targets 11(1):3–10
Référence électronique
Author information
Authors and Affiliations
Corresponding author
About this article
Cite this article
Cayuela, J.M., Huguet, F. Le diagnostic de la leucémie myéloïde chronique (LMC) en 2012. Oncologie 14, 561–568 (2012). https://doi.org/10.1007/s10269-012-2211-4
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10269-012-2211-4