From the Guidelines
For diagnosing and monitoring chronic lymphocytic leukemia (CLL) and chronic myeloid leukemia (CML), the essential laboratory tests include cytogenetics, FISH, and RT-PCR to confirm diagnosis and determine prognosis. The key diagnostic tests for CLL include a complete blood count (CBC) with differential showing lymphocytosis (>5,000 lymphocytes/μL), peripheral blood flow cytometry demonstrating CD5+, CD19+, CD23+ B-cells with dim surface immunoglobulin, and bone marrow biopsy 1. Additional tests for CLL include FISH analysis for chromosomal abnormalities (particularly del 17p, del 11q, trisomy 12), immunoglobulin heavy chain variable region (IGHV) mutation status, and TP53 mutation testing 1. For CML, the key diagnostic tests include CBC showing leukocytosis with left-shifted granulocytes, peripheral blood smear examination, bone marrow aspiration and biopsy, and most importantly, genetic testing for the Philadelphia chromosome (t(9;22)) and BCR-ABL1 fusion gene by PCR or FISH 1.
Key Laboratory Tests
- CBC with differential
- Peripheral blood flow cytometry
- Bone marrow biopsy
- FISH analysis for chromosomal abnormalities
- Immunoglobulin heavy chain variable region (IGHV) mutation status
- TP53 mutation testing
- Genetic testing for the Philadelphia chromosome (t(9;22)) and BCR-ABL1 fusion gene by PCR or FISH
- Quantitative PCR for BCR-ABL1 to monitor treatment response in CML These tests help establish diagnosis, determine prognosis, guide treatment decisions, and monitor disease progression or treatment response.
Additional Tests
- Comprehensive metabolic panel
- LDH
- Uric acid tests to assess organ function and tumor burden It is crucial to note that the diagnosis and management of CLL and CML require a comprehensive approach, including clinical evaluation, laboratory tests, and imaging studies 1. The most recent and highest quality study recommends cytogenetics, FISH, and RT-PCR for the diagnosis and management of CML 1.
From the Research
Labs for CLL or CML
To diagnose Chronic Lymphocytic Leukemia (CLL) or Chronic Myeloid Leukemia (CML), several laboratory tests can be utilized.
- For CML, a study 2 suggests that a simple screening method using the parameters of a complete blood count (CBC) and differentials can be effective.
- The following labs are relevant for CML diagnosis:
- Complete Blood Count (CBC)
- Differential counts, including:
- Basophil count
- Immature granulocyte (IG) count
- Neutrophil alkaline phosphatase (NAP) score
- There is no direct evidence provided for CLL diagnosis in the given studies.
- The other studies 3, 4, 5 do not provide relevant information for CLL or CML diagnosis.