how to diagnose cml and how do patients present
A patient with CML may initially have no symptoms, but when symptoms occur, this enlarged organ can cause a feeling of fullness or discomfort in the left upper abdomen.
the spleen
What chromosomal abnormality is characteristic of CML and results in the formation of the Philadelphia chromosome?
t(9;22) translocation
What is the mainstay of treatment for CML
Tyrosine kinase inhibitors (TKIs) targeting BCR-ABL1.
What are the three phases CML can progress through?
Chronic → Accelerated → Blast phase (blast crisis)
A full blood count in a patient with suspected CML typically reveals a marked increase in this type of blood cell, often accompanied by a left shift and basophilia. A full blood count in a patient with suspected CML typically reveals a marked increase in this type of blood cell, often accompanied by a left shift and basophilia.
WBCs/ leukocytes
In CML, what abnormal protein is produced as a result of the Philadelphia chromosome, and what is its major effect on cell signalling?
What is the BCR-ABL1 fusion protein
Which first-generation TKI is commonly used as an initial treatment option for CML?
Imatinib
How is CML commonly first discovered, and what symptoms may be present at diagnosis?
It may be found incidentally on a blood test, or patients may present with symptoms such as fatigue, weight loss, night sweats or splenomegaly.
A patient has marked leukocytosis, splenomegaly, basophilia, and a left shift on their blood film. Although these findings strongly suggest CML, this test is required to definitively confirm the diagnosis and distinguish it from a reactive leukocytosis.
Philadelphia chromosome tested via genetic testing on blood or bone marrow samples. This is performed via reverse transcription-polymerase chain reaction (RT-PCR), fluorescence in situ hybridization (FISH), or standard cytogenetic karyotyping on peripheral blood or bone marrow.
A patient with CML develops progressive disease and eventually enters blast crisis. What underlying pathophysiological change explains this progression from relatively mature myeloid cells to accumulation of immature blasts?
What is the acquisition of additional genetic abnormalities
What should be done if a patient has an inadequate response or develops resistance to their TKI?
Check adherence/interactions → assess for BCR-ABL1 mutations → switch to another TKI if appropriate.
Why can blast-phase CML cause fatigue, recurrent infections and abnormal bleeding?
Blast cells accumulate in the bone marrow and crowd out normal blood-cell production.