Related Experiment Videos
[Cytogenetic analysis of 600 cases with chronic myelogenous leukemia]
1First Affiliated Hospital of Suzhou Medical College, Jiangsu Institute of Hematology, Suzhou 215006 P. R. China.
Insights
Cytogenetic analysis of 600 chronic myelogenous leukemia (CML) cases reveals the Philadelphia chromosome (Ph) in 95%. Karyotype abnormalities, particularly extra chromosomal changes in blast crisis, are significant for diagnosis and treatment prediction.
Area of Science:
- Hematology
- Cytogenetics
- Oncology
Context:
- Chronic myelogenous leukemia (CML) is a myeloproliferative neoplasm characterized by the Philadelphia chromosome (Ph).
- Accurate cytogenetic analysis is crucial for CML diagnosis, prognosis, and treatment monitoring.
- Understanding Ph chromosome variants and associated abnormalities aids in predicting disease progression.
Purpose:
- To analyze the cytogenetic features of the Philadelphia chromosome in a large cohort of CML patients.
- To investigate the significance of cytogenetic findings in diagnosing CML, predicting blast crisis, and evaluating therapeutic response.
Summary:
- Retrospective analysis of 600 CML cases showed 95% were Ph-positive.
- Standard Ph translocation was observed in 93.8%, with variant translocations in 5.9%.
- Extra chromosomal abnormalities, including +8, 2 Ph, and i(17q), were frequent in Ph-positive CML with blast crisis (50.6%).
Impact:
- Cytogenetic examination is vital for CML diagnosis and differentiation.
- Karyotype analysis helps predict blast crisis and evaluate treatment efficacy.
- Cytogenetic findings facilitate a refined classification of CML.
Objective:
This was a retrospective analysis of cytogenetic data from 600 cases with chronic myelogenous leukemia (CML) to investigate the features of Ph chromosome and its significance.
Methods:
Bone marrow direct method and/or short-term culture were used to prepare the chromosomes and karyotype analysis was performed with R-banding technique.
Results:
30 cases (5%) were Ph negative; 570 cases (95%) were Ph positive. 535 cases (93.8%) had standard Ph translocation;34 cases(5.9%) had variant translocation, including 13 cases (2.2%) with simple variant translocation, 13 cases (2.2%) with complex variant translocation and 8 cases (1.4%) with masked Ph chromosome. 526 cases (92.2%) had 100% of Ph positive cells; 44 cases (7.7%) had normal karyotype in partial or all metaphases after treatment such as allogeneic bone marrow transplantation, interferon and pulse hydroxyurea therapy, but conventional chemotherapy had no effect on the percentage of Ph positive cells. 50.6% of Ph positive CML with blast crisis had extra chromosomal abnormalities, of which, the most common ones were +8(46.1%),2 Ph(33.9%) and i(17q) (23%) in descending order.
Conclusion:
These facts indicate that chromosome examinations not only help diagnose and differentiate CML,but also help predict the blast crisis, evaluate the therapeutic effect, and make a cytogenetic classification for CML.