Chronic myelogenous leukemia diagnostic study of choice
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Badria Munir M.B.B.S.[2] , Shyam Patel [3]
Overview
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 one or more of the following studies done on peripheral blood:
- Conventional cytogenetics: This tests assess the presence and morphology of chromosomes in cells.[1]
- Fluorescence in situ hybridization (FISH) analysis: This test confirms the presence of the translocation between chromosomes 9 and chromosome 22 (which causes the BCR gene to come into proximity with the ABL gene).[1]
- Reverse transcriptase polymerase chain reaction (RT-PCR):This can be done to assess for BCR-ABL transcripts at the mRNA level. This test is more sensitive and is more commonly used in the current era when assessing response to therapy.[1]
Peripheral blood smear
Peripheral blood smear may show:[2]
- Absolute leukocytosis (median of 100,000/µL) with a left shift and classic myelocyte bulge (more myelocytes than the more mature metamyelocytes seen on the blood smear)
- Blasts usually number <2%
- Absolute basophilia, in 90% of cases
- Monocytosis is often seen, but generally not an increased monocyte percentage
- Absolute monocytosis is more prominent in the unusual cases with a p190 BCR/ABL
- Platelet count is usually normal or elevated
- 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
References
- ↑ 1.0 1.1 1.2 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. PMID 10735902.
- ↑ 2.0 2.1 Melo 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. PMID 8289491.