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Complex Karyotype in Hematological Diseases: A 6-Year Single Centre Study from Pakistan
Samra Waheed1, Jawad Hassan1, Maliha Naz1
1National Institute of Blood Disease and Bone Marrow Transplantation, Karachi, Pakistan.
Journal of Oncology
|July 5, 2018
Summary
Complex karyotypes are associated with hematological disorders, particularly myelodysplastic syndromes and acute myeloid leukemia. This study highlights their presence and common abnormalities in the region.
Area of Science:
- Hematology
- Cytogenetics
- Oncology
Background:
- Hematological disorders exhibit diverse morphology, immunophenotype, and genetic rearrangements.
- Conventional cytogenetic analysis is crucial for diagnosing and determining prognosis in hematological diseases.
- Complex karyotypes, though rare, are linked to poorer patient outcomes.
Purpose of the Study:
- To investigate the prevalence and characteristics of complex karyotypes in various hematological disorders.
- To identify common chromosomal abnormalities associated with complex karyotypes.
- To assess the occurrence of complex karyotypes in both benign and malignant hematological conditions.
Main Methods:
- Conventional cytogenetic analysis was performed on 1185 bone marrow or peripheral blood samples.
- Samples were obtained from patients with a range of hematological diseases, both benign and malignant.
- Cells were cultured prior to cytogenetic analysis.
Main Results:
- Complex cytogenetic abnormalities were identified in 3.4% (41 out of 1185) of patients, predominantly males (80%).
- Myelodysplastic syndromes (8%), acute myeloid leukemia (7%), and acute lymphoblastic leukemia (4%) showed the highest frequencies of complex karyotypes.
- Trisomy 21 (28%) and deletion 5q were the most frequent chromosomal abnormalities observed.
Conclusions:
- Complex karyotypes are most commonly associated with myelodysplastic syndromes and acute myeloid leukemia.
- Trisomy 21 and deletion 5q are prevalent cytogenetic abnormalities in patients with complex karyotypes.
- This study is the first to report on complex karyotypes in hematological disorders within the region, including a case of aplastic anemia.
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