Скачать или смотреть 33-Myeloproliferative Disorders | Chronic Myeloid Leukemia | Pathoma/ First Aid USMLE Step 1

Chronic myeloid leukemia (CML) is a type of cancer that originates in the bone marrow, which is the soft tissue inside bones where blood cells are produced. CML specifically affects the myeloid cells, which are a type of white blood cell involved in fighting infections and other functions.

Key Features of CML

1. **Genetic Abnormality**: The hallmark of CML is the presence of the Philadelphia chromosome, a genetic abnormality caused by a translocation between chromosomes 9 and 22. This translocation creates a new gene called BCR-ABL, which produces an abnormal tyrosine kinase enzyme that drives the uncontrolled growth of leukemic cells.

2. **Phases of CML**:
**Chronic Phase**: This is the initial phase where symptoms may be mild or absent. Patients may have elevated white blood cell counts, and the disease is often discovered through routine blood tests.
**Accelerated Phase**: The disease progresses with increased blast cells (immature white blood cells), and patients may start to experience symptoms such as fatigue, fever, and an enlarged spleen.
**Blast Crisis Phase**: This is the most severe phase, resembling acute leukemia, with a high number of blast cells. Patients may suffer from severe symptoms, including anemia, infections, and bleeding problems.

3. **Symptoms**: Symptoms of CML can include fatigue, weight loss, night sweats, fever, bone pain, and an enlarged spleen (splenomegaly), which can cause abdominal discomfort.

4. **Diagnosis**: CML is diagnosed through blood tests showing elevated white blood cell counts and confirmed by genetic tests identifying the Philadelphia chromosome or BCR-ABL gene. Bone marrow biopsies are also used for diagnosis and assessing disease progression.

5. **Treatment**:
**Tyrosine Kinase Inhibitors (TKIs)**: These are the mainstay of treatment and include drugs such as imatinib, dasatinib, and nilotinib. They specifically target the BCR-ABL protein, effectively controlling the disease.
**Stem Cell Transplantation**: This may be considered in cases where TKIs are ineffective or in younger patients

1. **Origin**: Bone marrow cancer.
2. **Affected Cells**: Myeloid white blood cells.
3. **Philadelphia Chromosome**: Genetic hallmark.
4. **Chromosome Translocation**: Between chromosomes 9 and 22.
5. **BCR-ABL Gene**: Resulting from translocation.
6. **Tyrosine Kinase**: Abnormal enzyme produced by BCR-ABL.
7. **Uncontrolled Growth**: Of leukemic cells.
8. **Chronic Phase**: Initial phase, often mild symptoms.
9. **Accelerated Phase**: Intermediate phase, more symptoms.
10. **Blast Crisis Phase**: Resembles acute leukemia, severe symptoms.
11. **Fatigue**: Common symptom.
12. **Weight Loss**: Symptom.
13. **Night Sweats**: Symptom.
14. **Fever**: Symptom.
15. **Bone Pain**: Symptom.
16. **Splenomegaly**: Enlarged spleen causing abdominal discomfort.
17. **Elevated White Blood Cells**: Detected in blood tests.
18. **Genetic Testing**: Identifies Philadelphia chromosome.
19. **Bone Marrow Biopsy**: Used for diagnosis.
20. **Tyrosine Kinase Inhibitors (TKIs)**: Main treatment.
21. **Imatinib**: First-generation TKI.
22. **Dasatinib**: Second-generation TKI.
23. **Nilotinib**: Second-generation TKI.
24. **TKI Mechanism**: Targets BCR-ABL protein.
25. **Stem Cell Transplantation**: Option for advanced cases.
26. **Interferon-alpha**: Alternative therapy.
27. **Chemotherapy**: Used in some cases.
28. **Supportive Treatments**: For symptom management.
29. **Prognosis**: Improved with TKIs.
30. **Long-term Remission**: Achievable with treatment.
31. **Near-normal Life Expectancy**: For chronic phase patients.
32. **Regular Monitoring**: Essential for management.
33. **Adherence to Treatment**: Crucial for maintaining remission.
34. **Molecular Monitoring**: Tracks BCR-ABL levels.
35. **Blood Counts Monitoring**: Regular checks.
36. **Bone Marrow Examination**: Periodically needed.
37. **Mutation Testing**: For TKI resistance.
38. **Drug Side Effects**: Must be managed.
39. **Fatigue Management**: Important aspect.
40. **Splenectomy**: Occasionally needed for enlarged spleen.

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