Abstract
Hematological and hematopoietic cells malignancies of the genes and hematopoietic cells are associated with the genetic mutation, often at the chromosomal level. The standard cytogenetic study is widely accepted as one of the main diagnostics and prognostic determinants in patients. Therefore, the current descriptive and cross-sectional study sought to determine the cytogenetic analysis of frequent hematological malignancies in Pakistan. A total of 202 peripheral bone marrow or blood samples from patients with benign and malignant hematological malignancy were taken using a conventional G-banding technique. Among enrolled patients, the mean age was 21.5 years ± 23.4, and gender-wise distribution showed a marked predominance of the male 147 (73%) population compared to the female 55 (27%). Patients in the age group (2-10 years) had the highest frequency, 48 (24%), of hematological neoplasms, followed by age (11-20 years) with 40 (20%). Normal karyotypes (46, XX/46, XY) was found in 51% (n=103) patients. Furthermore, the frequency of complex karyotype was 30 (15%), while normal was seen in 171 (85%) patients. Pre-B Acute Lymphoblastic Leukemia (Pre-B ALL) was the most prevalent malignancy of 66 (33%), followed by Chronic Myelogenous Leukemia (CML) of 41 (20%) and Acute Lymphocytic Leukemia of 29 (14%). Translocation was the most prevalent 50 (25%), followed by hypotriploidy 14 (7%) and monosomy 8 (4%) on chromosome aberration analysis. In addition, t(9:22) translocation was found to be 20 (10%) in CML, with the majority in the age group (31-40 years). This study recommends that karyotyping should be tested frequently in hematological conditions because it may provide insight into the relative chromosomal changes associated with particular malignancies.
Highlights
Hematological disorders are typically associated with hematopoietic stem cells mutations and chromosomal aberrations such as aneuploidy or euploidy (Zagozdzon and Golab, 2015), including leukemias, lymphomas, myelomas, aplastic anemia (AA), chronic myeloproliferative disorders (CMPD), and myelodysplastic syndromes (MDS) (Trejo et al, 2017)
All hematological malignancies are diagnosed in compliance with the World Health Organization (WHO) guidelines
The prevalence of hematological neoplasms identified by genetic anomalies is proliferating as is the number of specific therapeutic methods directly or indirectly addressing congenital abnormalities
Summary
Hematological disorders are typically associated with hematopoietic stem cells mutations and chromosomal aberrations such as aneuploidy or euploidy (Zagozdzon and Golab, 2015), including leukemias (acute/chronic), lymphomas, myelomas, aplastic anemia (AA), chronic myeloproliferative disorders (CMPD), and myelodysplastic syndromes (MDS) (Trejo et al, 2017). Hematological malignancies ranked among the top 10 leading malignant diseases in incidence and mortality. They account for about 9% of all cancer patients reported annually (Siegel et al, 2011). There has been a considerable reduction in mortality owing to such hematological malignancies (Prakash et al, 2016; Siegel et al, 2011) This positive development is due to robust diagnostic approaches over the last decade or so, primarily due to genetic advancement in the area of hemato-oncology and its application (Prakash et al, 2016; Sánchez et al, 2014). The current study was carried out to calculate the prevalence of different cytogenetic abnormalities in hematological disorders
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