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Questions and Answers
What genetic abnormality is typically associated with Chronic Myeloid Leukaemia (CML)?
Which type of leukaemia is NOT classified under Chronic Myeloid Leukaemia?
What is the typical age of presentation for Chronic Myeloid Leukaemia?
Which of the following laboratory findings is most indicative of Chronic Myeloid Leukaemia?
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What type of symptoms are commonly associated with Chronic Myeloid Leukaemia due to hypermetabolism?
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Which of the following features is observed in the bone marrow of patients with Chronic Myeloid Leukaemia?
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What is a rare symptom that may appear in patients with Chronic Myeloid Leukaemia?
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What is the role of the BCR-ABL fusion protein in Chronic Myeloid Leukaemia?
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Study Notes
Chronic Leukaemias
- Chronic leukaemias can be broadly subdivided into chronic myeloid leukaemia and chronic lymphoid leukaemia.
- Chronic myeloid leukaemia (CML) is the most common type of chronic leukaemia.
- CML is associated with the Philadelphia chromosome.
Chronic Myeloid Leukaemia
- CML is an acquired clonal disorder of pluripotent stem cells.
- CML is caused by a reciprocal translocation between chromosomes 9 and 22.
- This translocation moves part of the Abelson protooncogen (ABL) to the (BCR) gene on chromosome 22 and part of chromosome 22 moves to chromosome 9.
- The abnormal chromosome 22 is known as the Philadelphia chromosome (Ph).
- The resulting chimeric BCR-ABL gene codes for a fusion protein with tyrosine kinase activity in excess of normal.
### BCR-ABL Fusion Protein
- BCR-ABL fusion proteins are either 210KDa or 190KDa in size.
- The 210KDa protein results from a breakpoint in BCR that is further downstream, while the 190KDa protein results from a breakpoint that is further upstream.
- Rarely, a breakpoint in μ-BCR producing a P230kda fusion protein occurs and is prominent in neutrophilic leukaemia.
- In a minority of patients, the Philadelphia chromosome is not seen microscopically.
CML Clinical Presentation
- CML has a male:female ratio of 1.4:1.
- CML can occur at any age, including in children and neonates.
- The most common age for presentation is between 40-60.
- Symptoms often relate to hypermetabolism, including weight loss, lassitude, anorexia, and night sweats.
- Gout and renal impairment due to hyperuricemia may also occur.
- Bone marrow failure can lead to bruising, epistaxis, menorrhagia, and hemorrhage as a result of platelet dysfunction.
- Organ infiltration often results in splenomegaly, which is almost always present and frequently massive.
- Rare symptoms include visual disturbance.
Laboratory Findings
- A complete blood count (CBC) shows:
- Normochromic normocytic anemia.
- Leucocytosis >50 x 10^9/L to >500 x 10^9/L.
- Platelet count is increased, normal, or decreased.
- In a peripheral blood film, all myeloid series cells are observed with increased circulating basophils.
- The bone marrow is hypercellular with myeloid hyperplasia.
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Description
This quiz explores chronic leukaemias, focusing on chronic myeloid leukaemia (CML), its genetic basis, and the implications of the BCR-ABL fusion protein. Participants will learn about the Philadelphia chromosome and its role in CML's pathogenesis. Test your knowledge on this important hematological disorder.
