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Chronic myelogenous leukemia (CML) is a hematopoietic stem cell disease accounting for 15% of all leukemias.
Tests generally appear in the order most useful for common clinical situations
| Test name: CBC with Platelet Count |
| ARUP #: 0040002 |
| Methodology: Automated Cell Count |
| Use: Initial evaluation for presence of leukocytosis |
| Test name: Leukocyte Alkaline Phosphatase |
| ARUP #: 0049000 |
| Methodology: Cytochemical Stain |
| Use: Differentially diagnose cases of neutrophilia, including CML and leukemoid reaction |
| Limitations: Helpful first-line screening test; however, does not definitively diagnose CML |
| Test name: BCR-ABL, t(9;22) Translocation Qualitative by RT-PCR |
| ARUP #: 0055553 |
| Methodology: Reverse Transcription Polymerase Chain Reaction |
| Use: Screen patients suspected of CML or acute lymphoblastic leukemia (ALL) for BCR-ABL1 transcripts Distinguish between major and minor transcripts
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| Limitations: Results alone should not be used for diagnosis of malignancy but correlated with blood or bone marrow findings Assay is qualitative and not intended to detect MRD or monitor patients for MRD Limit of detection is at least 1 in 100,000 |
| Test name: Chromosome Analysis, Bone Marrow |
| ARUP #: 2002292 |
| Methodology: Giemsa-Band Analysis |
| Use: Establish diagnosis by detection of t(9;22) Identify secondary cytogenetic changes predicting transformation into accelerated or blast phase such as an additional Ph chromosome (der 22), +8, iso 17q, or +19 |
| Follow-up: Repeat at 6 and 12 months from initiation of therapy and at 18 months if not in cytogenetic remission Also repeat if patient appears to have rising level (one log increase) of BCR-ABL1 transcripts |
| Test name: Chromosome FISH, Interphase |
| ARUP #: 2002298 |
| Methodology: Fluorescence in situ Hybridization |
| Use: Screen for and diagnose CML Turnaround time is faster than PCR testing May be ordered concurrently with PCR qualitative BCR-ABL1 testing Genes involved include BCR-ABL1 fusion Indicate names of probes ARUP Oncology FISH Probes menu |
| Limitations: Not recommended for monitoring; MRD if PCR testing is available |
| Test name: Myeloproliferative Disorders Panel by FISH |
| ARUP #: 2002360 |
| Methodology: Fluorescence in situ Hybridization |
| Use: Distinguish CML from other MPDs with aberrant tyrosine kinases Detect CML, myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 |
| Limitations: Probe detects only specific aberrations in the chromosomes of interest for diagnosis and prognosis |
| Test name: BCR-ABL1, Major (p210), Quantitative |
| ARUP #: 2005017 |
| Methodology: Reverse Transcription/Quantitative Polymerase Chain Reaction |
| Use: Identify and monitor p210 BCR-ABL1 mRNA fusion in CML and a subset of ALL with confirmed p210 Ph+ Assess treatment milestones and detect early signs of resistance to TKI therapy |
| Limitations: Results must always be interpreted in context of morphologic and other relevant data and should not be used alone for diagnosis of malignancy Samples identified as negative may still harbor BCR-ABL1 positive cells at levels below limit of detection BCR-ABL1 mRNA with the minor breakpoint (e1a2; p190) are not detected |
| Test name: BCR-ABL1 Kinase Domain Mutation Analysis |
| ARUP #: 0040138 |
| Methodology: Polymerase Chain Reaction/Sequencing |
| Use: Detect BCR-ABL1 kinase mutations leading to TKI resistance Monitor patients on TKI therapy who have little to no response to the drug or have a suboptimal response, or those who have had a good response but now show a 5-10 fold rise in transcript levels documented twice (as indicated by results from qualitative RT-PCR BCR-ABL1, t(9;22) translocation testing) |
| Limitations: Negative result does not preclude the presence of BCR-ABL1 transcripts below the assay detection limit or the presence of rare mutations not detected by this assay Test does not detect other mechanisms of TKI resistance Test is not intended to detect MRD |
| Follow-up: Results must be used in combination with morphologic and clinical data |
| Test name: BCR-ABL1, Minor (p190), Quantitative |
| ARUP #: 2005016 |
| Methodology: Reverse Transcription/Quantitative Polymerase Chain Reaction |
| Use: Detect and monitor p190 BCR-ABL1 fusion found in CML and a subset of ALL Diagnosis, prognosis, and therapeutic monitoring in patients with confirmed p190 Ph+ leukemia |
| Limitations: Results must always be interpreted in context of morphologic and other relevant data and should not be used alone for diagnosis of malignancy Samples identified as negative may still harbor BCR-ABL1 positive cells at levels below limit of detection BCR-ABL1 mRNA with the major breakpoint (e13a2, e14a2; p210) are not detected |
| Test name: BCR-ABL1, Qualitative with Reflex to BCR-ABL1 Quantitative |
| ARUP #: 2005010 |
| Methodology: Reverse Transcription Polymerase Chain Reaction |
| Use: Detect presence of BCR-ABL1 fusion when form is unknown or is unclear If either p210 or p190 fusion detected, appropriate quantitative test will be performed |
| Test name: BCR-ABL1, T315I Mutation Detection, Quantitative |
| ARUP #: 2004924 |
| Methodology: Reverse Transcription Polymerase Chain Reaction/Pyrosequencing |
| Use: Identify T315I mutation in patients using TKI-directed therapy (Gleevec) who have a known BCR-ABL1 translocation to determine therapy options |
| Limitations: Only the T315I mutation will be identified |
| Test name: Lysozyme, Serum or Body Fluid |
| ARUP #: 0050367 |
| Methodology: Quantitative Radial Immunodiffusion |
| Comments: |
| Test name: Lysozyme, Urine |
| ARUP #: 0050368 |
| Methodology: Quantitative Radial Immunodiffusion |
| Comments: |