Abstract
Background Most of the hematological disorders are heterogenous with regard to morphology, immunophenotype, and genetic rearrangements. Multiple recurrent chromosomal aberrations have been identified by conventional cytogenetic analysis, which is now widely recognized as one of the most important diagnostic and prognostic determinants in these patients. Though rarer, complex karyotype has been associated with worst prognosis. Materials and Methods A total of 1185 bone marrow or peripheral blood cytogenetics samples were taken with different hematological diseases. They included both benign and malignant disease entities. In each case, cells were cultured and conventional cytogenetic analysis was performed. Results Among 1185 subjects, 41 (3.4%) patients possessed complex cytogenetic abnormalities. Out of these 41, 33 (80%) were males. The mean age was 37 years (median age 39 years). Myelodysplastic syndromes had the most numbers of complex karyotypes (8%), followed by acute myeloid leukemia (7%) and acute lymphoblastic leukemia (4%). Also we found few patients with acute promyelocytic leukemia, aplastic anemia , chronic myeloid leukemia, and diffuse large B cell Lymphoma possessing complex karyotype. Frequencies of different cytogenetic abnormalities were assessed with respect to disease as well as independently. Trisomy 21 was the most common chromosomal abnormality found in 28% of patients. Conclusion Complex karyotype was most frequently associated with myelodysplastic syndromes and acute myeloid leukemia. Trisomy 21 and deletion 5q were the commonest cytogenetic abnormalities found. We also assessed complex karyotype in benign diseases and detected one patient of aplastic anemia with complex karyotype. This is the first study highlighting the presence of complex karyotypes in hematological disorders in our region.
Highlights
Cytogenetic analysis of hematological disease is an important methodology used by clinicians and researchers
Other diseases with complex karyotype include acute lymphoblastic leukemia, acute promyelocytic leukemia, chronic myeloid leukemia, diffuse large B cell lymphoma, and aplastic anemia diagnosed on bone marrow biopsy (Table 2)
Trisomy 21 was most common cytogenetic abnormality presented in 28% of all complex karyotypes followed by hyperploidy that was 15% (Figure 1)
Summary
Cytogenetic analysis of hematological disease is an important methodology used by clinicians and researchers. Multiple recurrent chromosomal aberrations have been identified by conventional cytogenetic analysis, which is widely recognized as one of the most important diagnostic and prognostic determinants in these patients. A total of 1185 bone marrow or peripheral blood cytogenetics samples were taken with different hematological diseases. They included both benign and malignant disease entities. We found few patients with acute promyelocytic leukemia, aplastic anemia , chronic myeloid leukemia, and diffuse large B cell Lymphoma possessing complex karyotype. We assessed complex karyotype in benign diseases and detected one patient of aplastic anemia with complex karyotype This is the first study highlighting the presence of complex karyotypes in hematological disorders in our region
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