Chronic myeloid leukaemia is a malignant clonal disorder of haematopoietic stem cells.
At presentation, one-third of patients may be asymptomatic; if present, symptoms typically include malaise, fever, weight loss, abdominal discomfort, and night sweats.
Splenomegaly is the most common physical finding; nearly all patients will have elevated WBC count.
Presence of Philadelphia chromosome and /or molecular demonstration of the BCR-ABL transcript confirms diagnosis.
Treatment with a BCR-ABL tyrosine kinase inhibitor (TKI) gives long-term remission without significant adverse events in most patients.
Treatment-free remission may be attempted for select patients, and thus functional cure after TKI therapy is feasible.
Chronic myeloid leukaemia (CML) is a malignant clonal disorder of the haematopoietic stem cell that results in marked myeloid hyperplasia of the bone marrow. Dysregulation of haematopoiesis arises due to a BCR-ABL fusion gene that causes an abnormal expansion of myeloid cells in the bone marrow and peripheral blood. The 'chronic phase' of the disease may transform to an 'accelerated' or 'blast' phase in 5% to 10% of patients despite treatment with a tyrosine kinase inhibitor, the latter resulting in acute myeloid or acute lymphoblastic leukaemia (ALL).
History and exam
Key diagnostic factors
- presence of risk factors
- shortness of breath
- left upper quadrant discomfort or fullness
- sternal tenderness
Other diagnostic factors
- weight loss
- excessive sweating
- retinal haemorrhages
- age 65 to 74 years
- ionising radiation exposure
- male sex
1st investigations to order
- complete metabolic profile
- peripheral blood smear
- bone marrow biopsy
- cytogenetic studies
- quantitative reverse transcription PCR (qRT-PCR) including breakpoint analysis
- fluorescent in situ hybridisation (FISH)
relapse after allogeneic HSCT or allogeneic HSCT contraindicated
- Leukaemoid reaction
- Benign neutrophilic leukocytosis
- Atypical CML
- NCCN clinical practice guidelines in oncology: chronic myeloid leukemia
- Suspected cancer: recognition and referral
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