Chronic myelogenous leukemia diagnostic study of choice
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2]; Associate Editor(s)-in-Chief: Badria Munir M.B.B.S.[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 all 46 chromosomes in cells.[1]
- Fluorescence in situ hybridization (FISH) analysis: This test for the presence of the translocation between chromosomes 9 and 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]
- A diagnosis of chronic myelogenous leukemia can also be made from bone marrow studies, though a bone marrow biopsy is not necessary. The utility of a bone marrow biopsy is that it can provide information in metaphase cytogenetics.
- A diagnosis of chronic myelogenous leukemia can also be supported by the clinical presentation based on history and physical examination findings, but these are nonspecific.
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
Name of Diagnostic Criteria:
| 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 ≥ 30% in perpheral blood and bone marrow |
| No sign of CML accelerated phase | Peripheral blood myeloblasts 15–29% in peripheral blood and/or bone marrow, or
Peripheral blood myelocytes plus promyelocytes combined 30% or greater, or Peripheral blood basophils ≥ 20% |
Extramedullary blast proliferation |
| 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
- ↑ 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.
- ↑ Empty citation (help)
- ↑ 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. PMID 27069254.