Chronic myelogenous leukemia diagnostic study of choice
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Badria Munir M.B.B.S.[2]
Overview
Diagnostic Study of Choice
Study of choice
- There is no single diagnostic study of choice for the diagnosis of chronic myelogenous leukemia.
- Chronic myelogenous leukemia is primarily diagnosed based on the clinical presentation, supported by the typical findings in the blood and bone marrow, and then confirmed by using one of the following:[1]
- Conventional cytogenetics
- Fluorescence in situ hybridization (FISH) analysis
- Reverse transcription polymerase chain reaction (RT-PCR)
Diagnostic results
- The following findings on performing PCR is confirmatory for Chronic myelogenous leukemia:
- The Philadelphia chromosome
- The BCR-ABL1 fusion gene
- The BCR-ABL1 fusion mRNA
Sequence of Diagnostic Studies
- The peripheral blood studies must be performed when:
- The patient presented with signs of anemia, lecopenia and thrombocytopenia as the first step of diagnosis.
- Peripheral blood studies 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.
- The various investigations must be performed in the following order:[2]
- 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 |
Increasing spleen size and WBC 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 109/L)
unrelated to therapy or Persistent thrombocytosis (> 1000 x 109/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. 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.