The diagnosis of chronic myelogenous leukemia is confirmed via peripheral blood karyotyping or FISH showing presence of the translocation between chromosomes 9 and 22 (which causes the BCR gene to come into proximity with the ABL gene. A bone marrow biopsy can also be done to aid in the diagnosis and to better assess for Philadelphia chromosome-positive metaphases.
Diagnostic Study of Choice
Study of choice
The diagnosis of chronic myelogenous leukemia is confirmed via peripheral blood karyotyping or FISH showing presence of the translocation between chromosomes 9 and 22 (which causes the BCR gene to come into proximity with the ABL gene.
Chronic myelogenous leukemia can also be diagnosed based on the clinical presentation and supported by the typical findings in the blood and bone marrow, and then confirmed by using one of the following:[1]
Thrombocytopenia suggests an alternative diagnosis or the presence of advanced stage, rather than chronic phase, disease.
Increase in myeloid cells at various stages of maturation (i.e. metamyelocytes and band forms)
The various investigations should be performed in the following order:[2]
Peripheral blood smear review
Peripheral blood studies
Bone marrow biopsy
Name of Diagnostic Criteria:
WHO criteria of diagnosing different phases of chronic myeloid leukemia is following: [3][4]
WHO Criteria of Different Phases of CML
CML chronic phase
CML accelerated phase
CML blast phase
Granulocytosis in the presence of Ph chromosome and/or BCR/ABL translocation
Increasing spleen size and WBC count unresponsive to therapy
Blasts ≥ 20% in perpheral blood and bone marrow
No sign of CML accelerated phase
Cytogenetic evidence of clonal evolution of blasts 10–19% in peripheral blood and/or bone marrow
Extramedullary blast proliferation
Peripheral blood basophils ≥ 20%
Large foci or clusters of blasts in the bone marrow biopsy
Persistent thrombocytopenia (< 100 x 10^9/L) unrelated to therapy or
Persistent thrombocytosis (> 1000 x 10^9/L) unresponsive to therapy
References
↑Le Gouill S, Talmant P, Milpied N, Daviet A, Ancelot M, Moreau P, Harousseau JL, Bataille R, Avet-Loiseau H (April 2000). "Fluorescence in situ hybridization on peripheral-blood specimens is a reliable method to evaluate cytogenetic response in chronic myeloid leukemia". J. Clin. Oncol. 18 (7): 1533–8. doi:10.1200/JCO.2000.18.7.1533. PMID10735902.
↑ 2.02.1Melo JV, Myint H, Galton DA, Goldman JM (January 1994). "P190BCR-ABL chronic myeloid leukaemia: the missing link with chronic myelomonocytic leukaemia?". Leukemia. 8 (1): 208–11. PMID8289491.
↑Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, Bloomfield CD, Cazzola M, Vardiman JW (May 2016). "The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia". Blood. 127 (20): 2391–405. doi:10.1182/blood-2016-03-643544. PMID27069254.