Chronic Myeloid Leukaemia
Also written as CML.
t(9;22) — the Philadelphia chromosome — with this classic leukaemoid picture (marked leukocytosis, left shift, basophilia, low LAP score) confirms chronic myeloid leukaemia; BCR-ABL1 tyrosine kinase inhibitors (imatinib, etc.) are first-line treatment.
Treatment at a glance
- Imatinib 400 mg daily
What our notes say
- t(9;22) — the Philadelphia chromosome — with this classic leukaemoid picture (marked leukocytosis, left shift, basophilia, low LAP score) confirms chronic myeloid leukaemia; BCR-ABL1 tyrosine kinase inhibitors (imatinib, etc.) are first-line treatment. (Haematopathology MCQs: Blood Disorders & Anemia Explained)
- Discuss Chronic Myeloid Leukaemia (CML) under the following headings: (General & Systemic Pathology Exam: MBChB Year 3 Questions)
- Chronic myeloid leukaemia in blast crisis — requiring imatinib therapy (Haematopathology MCQs: Blood Disorders & Anemia Explained)
- Acute lymphoblastic leukaemia, chronic myeloid leukaemia, Kaposi sarcoma and malignant ovarian teratomas account for about 50% of all cancer cases globally (Oncopathology MCQs: Test Your Knowledge on Cancer Pathology)
- From buffy coats of normal donors or patients with chronic myeloid leukaemia ( Transfusion: Governance, Donor Selection & Blood Groups)
Study material on Chronic Myeloid Leukaemia
- Internal Medicine (MBIM 4100) main exam, Paper One: 3 July 2019
- Haematology End of Year 2025 Past Paper — MKU MBML 3200 Questions & Answers
- Haematology Exam 2025: MCQs on Anaemia, Leukaemia & Clotting
- Haematology Exam 2025: MCQs on Anaemia, Leukaemia & Clotting
Practice questions on Chronic Myeloid Leukaemia
Which chromosomal translocation is pathognomonic of chronic myeloid leukaemia?
- t(15;17)
- t(8;21)
- inv(16)
- t(9;22)(q34;q11)
Answer: D. This is the Philadelphia chromosome, producing the BCR-ABL fusion gene that defines CML. The other options are characteristic translocations of specific AML/ALL subtypes, not CML.
Which chromosomal translocation is pathognomonic of chronic myeloid leukaemia?
- t(8;21)
- t(15;17)
- t(4;11)
- t(9;22)(q34;q11)
Answer: D. This translocation creates the Philadelphia chromosome and BCR-ABL1 fusion gene, the molecular hallmark of CML. ---
A 55-year-old man presents with fatigue, weight loss and splenomegaly. His full blood count shows WCC 140 × 10⁹/L with marked neutrophilia, left shift and basophilia. Which investigation is required to confirm the diagnosis of chronic myeloid leukaemia?
- Peripheral blood smear only
- Bone marrow aspirate and trephine biopsy with cytogenetic analysis
- Quantitative RT-PCR for BCR-ABL transcripts
- JAK2 V617F mutation analysis
Answer: B. Marrow examination with cytogenetics confirms the Philadelphia chromosome, establishing the definitive CML diagnosis alongside molecular BCR-ABL testing. ---
Which chromosomal translocation is pathognomonic of chronic myeloid leukaemia?
- t(8;14)
- t(15;17)
- t(9;22)
- t(12;21)
Answer: C. The t(9;22) translocation, known as the Philadelphia chromosome, creates the BCR-ABL fusion gene, which is the defining genetic abnormality in chronic myeloid leukaemia (CML).
Which chromosomal translocation is pathognomonic of chronic myeloid leukaemia?
- t(9;22) - Philadelphia chromosome
- t(15;17)
- t(8;14)
- t(1;19)
Answer: A. The t(9;22) translocation, resulting in the Philadelphia chromosome (BCR-ABL fusion gene), is the hallmark genetic abnormality found in over 95% of patients with Chronic Myeloid Leukemia (CML).
Which chromosomal translocation is pathognomonic of chronic myeloid leukaemia?
- t(9;22)
- t(8;14)
- t(15;17)
- t(4;11)
Answer: A. The Philadelphia chromosome, a reciprocal translocation between chromosomes 9 and 22, t(9;22), is the hallmark genetic abnormality found in almost all cases of chronic myeloid leukemia (CML).