History and exam
Key diagnostic factors
common
splenomegaly
Extramedullary haematopoiesis is the likely cause.
fatigue
Due to anaemia, hyperviscosity, or multifactorial aetiology.
malaise
Due to anaemia, hyperviscosity, or multifactorial aetiology.
night sweats
Due to leukotriene release.
fever
Can be due to neutropenic infection.
abnormal/excessive bleeding
Probably related to thrombocytopenia or platelet dysfunction.
bone pain
Due to bone marrow invasion.
Other diagnostic factors
common
weight loss
Due to anorexia or early satiety from splenomegaly.
petechiae, ecchymoses, or easy bruising
Due to thrombocytopenia or platelet dysfunction.
infection
A more common feature of blast-phase chronic myeloid leukaemia (CML) than chronic- or accelerated-phase CML.
Non-specific in nature and corresponds to any form of leukopenia.
abdominal pain
Sequela of splenomegaly.
uncommon
visual changes
Disease may present as retinal haemorrhages or retinal vessel occlusion.
focal neurological signs
tinnitus
May be a manifestation of peripheral blood hyperviscosity.
confusion or stupor
Peripheral blood hyperviscosity or multifactorial aetiology.
Risk factors
strong
history of chronic myeloid leukaemia (CML)
If untreated, CML will progress to fatal blastic disease within 3-5 years.[8] Less than 5% of CML patients present in an advanced phase, although some patients will progress to accelerated or blast phase despite treatment.[9] In one study, 10-year cumulative incidence of transformation to the blast phase was 5.8% for patients with chronic-phase CML treated with imatinib as initial therapy; most transformations occurred in the first 2 years from diagnosis.[10]
Risk factors for progression of chronic phase CML to blast crisis include intolerance or resistance to tyrosine kinase inhibitors and lack of adherence to treatment.[17]
Additional chromosomal abnormalities (ACAs) and somatic mutations are acquired during the course of CML. High-risk ACAs (e.g., i(17)(q10), −7/del7q, and 3q26.2 rearrangements) and high-risk somatic mutations (e.g., ASXL1 and ABL1 kinase domain mutations) are associated with progression to blast phase and poor prognosis.[19][20]
exposure to alkylating chemotherapeutic agents
Patients with CML treated with older alkylating agents (primarily busulfan) may develop blast crisis quickly.[13]
weak
exposure to ionising radiation
Case series and literature reviews report secondary CML following radiotherapy.[21][22][23]
A positive association exists between cumulative dose of ionising radiation and death caused by CML among nuclear industry workers.[14][15]
An increased incidence of CML has been reported in Japanese atomic bomb survivours; risk appears to be greater with exposure to higher-radiation doses.[24]
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