Chronic Myeloid Leukemia (CML) is a condition where blood cells proliferate abnormally forming the Philadelphia chromosome (Ph). This chromosomal aberration arises from the fusion of segments from chromosomes 9 and 22 through a reciprocal translocation. The present study focused on detection of chromosomal abnormalities and the role of survivin expression in different stages of CML. This descriptive study was conducted over a period of 3 years which constitutes 55 diagnosed CML patients. Cytogenetic tests revealed 27 (49%) patients in chronic phase (CP) with the Ph chromosome including 1 case with additional Ph copy and also a unique case with three way translocations. In accelerated phase (AP), 7(13%) patients were Ph+ve and 1 case was with isochromosome 17q and extra Ph copy. In blast phase (BP), 5 (9.0%) cases were characterised by the presence of t(9;22) and 1 case showed abnormality like gain of X chromosome and Y chromosome loss. Additionally, 9 (16%) cases were Ph-ve. FISH analysis showed varied fusion patterns, with 30(54%) cases having typical fusion,18 (33%) showing heterogeneous signal patterns. 7(13%) were categorized as normal hybridization pattern signals. In our current study, Kaplan-Meier analysis indicated higher survivin expression correlated with shorter survival and lower expression linked to longer survival in CML patients.

A myeloproliferative disorder known as chronic myeloid leukemia (CML) is caused by the clonal proliferation of haematopoietic progenitor stem cell leading to a marked raise in the granulocyte series of cells in the peripheral blood and bone marrow. The present study focused on evaluating clinical and haematological parameters. It is an observational study conducted over a period of 3 years which constitutes 50 diagnosed CML patients. Clinical and haematological details were collected. Prognostic Sokal and European treatment and Outcomes Study (EUTOS) scoring were applied to stratify different risk groups of patients. Study population showed male preponderance. The most common presenting symptom was splenomegaly (98%) followed by anaemia (94%). The patients were divided into Chronic Phase (CP), Accelerated Phase (AP) and Blast phase (BP) in males and females. In males, there was a significant reduction in haemoglobin levels as the disease progressed whereas in females, there was a reduction in haemoglobin levels. Haemoglobin count reflected the anaemic picture and was lowest in the blast phase. The blood cell indices and differential counts were within their normal range in both male and female patients. There was variation in the levels of lymphocytes among males and females but lower than the normal range. Basophil levels were significant between the different phases in females whereas platelet count was significant in males. The current study expected that there would be significant variations between male and female CML patients in a number of haematological measures which can be used as a good prognostic indicator.

Acute leukaemia (AL) is a heterogeneous neoplastic disease that occurs by the growth of abnormal lymphoid and myeloid cells in the bone marrow and blood leading to acute myeloid leukaemia (AML) and acute lymphocytic leukaemia (ALL). Conventional cytogenetics is a characteristic technique to hunch chromosomal abnormalities, it helps in the diagnosis and therapeutic approach of the disease by the molecular cytogenetics technique of fluorescence in situ hybridization (FISH). Chromosomal abnormalities in AL are performed by karyotyping to confirm specific chromosomal abnormalities using FISH. The descriptive study included 42 clinically diagnosed AL patients. Karyotyping analysis was performed using the standard Giemsa banding procedure. To confirm specific chromosomal abnormalities and all culture failure (CF) cases, FISH was done. Among 42 cases, 29 (69.4%) males and 13 (30.9%) females, AML comprised 22 (52.38%) cases, ALL 14 (33.33%) cases, and AL 6 (14.2%) cases. Normal karyotype was found in 18 (42.85%), abnormal karyotype in 16 (39.09%), and 8 (19.09%) were CF. Specific abnormalities of t(15;17), hyperdiploidy; t(3;3) with monosomy 7 in; del(9q22); del(2p); del(17p); del(Xq); 1~2 dmin; der(3); +11, +13 and composite karyotype. Hypodiploidy was strongly associated with AL, which signifies the loss of chromosomes causing potential risk. Composite karyotype, rare t(3;3) double minutes, +11,+13, del(9q), and del(Xq) were the novel findings reported in the South Canara region of Karnataka. Despite other molecular techniques, conventional cytogenetics remains the baseline in the diagnosis of malignancies.

Objective: Multiple myeloma (MM) is a hematological disorder involving the uncontrolled proliferation of clonal plasma cells and its accumulation in the bone marrow. This study analyzed the frequency, cytogenetic heterogeneity, and clinical characteristics of patients with MM. Methods: Bone marrow aspirates were obtained from 72 patients with MM and evaluated by conventional cyto-genetics (CCs) and interphase fluorescence in situ hy-bridization (iFISH) techniques for a panel of probes, including immunoglobulin heavy chain (IgH)/CCND1, IgH/fibroblast growth factor receptor 3 (FGFR3), IgH/ MAFB, 13q deletion, and deletion 17p. Results: CCs revealed abnormal karyotypes in 39% of the patients examined. The incidence of hypodiploidy was 28% (20/72) while that of hyperdiploidy was 10% (7/72). iFISH analysis revealed t(11;14) in 6% (4/72) and t(4;14) in 11% (8/72) of patients. Patients with hyperdiploidy and hypodiploidy were associated with several monosomies and trisomies. Kaplan-Meier analysis revealed a signifi-cant difference between positive and negative groups for t(4;14), trisomy 14, and monosomy 13; this was associated with a shorter survival time. Cox proportional analysis identified t(4;14) (P = 0.032), trisomy 14 (P = 0.004), and monosomy 13 (P = 0.009), as significant factors with haz-ard ratio of 0.187 [confidence interval (CI): 0.041-0.862], 0.109 [CI: 0.024-0.500] and 0.134 [CI: 0.030-0.600]. Conclusion: In addition to cytogenetic abnormalities, iFISH analysis revealed significant heterogeneity among patients with MM. Cytogenetic heterogeneity in patients with MM should be considered as a major prognostic marker contributing to the variability of the disease. Our findings suggest that these abnormalities are independent prognostic factors.

Multiple Myeloma (MM) is a haematological malignancy associated with various symptoms such as renal deficiency, anaemia, bone lesions and hypercalcemia. To elucidate the mechanism of cyclin D1 expression in MM patients, MM patients were evaluated for t(11;14)(q13;q32) by Interphase Fluorescence in situ hybridization (iFISH) and cyclin D1 expression by Reverse transcriptase-quantitative polymerase chain reaction (RT-qPCR).The incidence rate of t(11;14)(q13;q32) and trisomy 11 was 6% and 15% respectively. Cyclin D1 expression was higher in cases than controls. t(11;14) positive and trisomy 11 patients showed higher expression than patients without t(11;14) and trisomy 11. We found that t(11;14)(q13;q32) was associated with calcium and creatinine. A positive correlation was seen between cyclin D1 expression and globulin and a negative correlation between cyclin D1 and sodium levels.Our study indicated that other than t(11;14), trisomy 11 is also associated with overexpression of cyclin D1. Therefore, identifying a gene expression and its association with trisomy 11 indicate novel therapeutic targets.

Preferentially expressed antigen of melanoma (PRAME) gene is regularly overexpressed in acute leukemia (AL) and other malignant diseases which are recognized by human leucocyte antigen (HLA-24) located in the human chromosome of 22q11 coded by 509 amino acids. To rule out the PRAME gene expression in AL patients and its correlation with clinical characteristics in the Indian population set up by RT-qPCR. A total of 42 samples collected, 29 (69.4%) were males, and 13 (30.95%) were females, with a mean and standard deviation for age were 39.07 ± 22.22 years. Of which AML were of 22 (52.38%) cases, ALL were of 14 (33.33%) cases, and 6 (14.2%) cases which included other forms of leukemia. PRAME gene expression was highly expressed in thirty-three 27 (64.28%) AL patients compared to the least expression in healthy individuals. No significant difference between the different forms of AL (p=0.3203) was observed. Cytogenetic analysis of normal karyotype (NK), abnormal karyotype (Ab. K), and culture failure (CF) displayed statistical non-significance (p=0.5801). Among cytogenetic abnormalities obtained, no significant differences between the groups were observed (p=0.8507). Chloride, potassium, and absolute lymphocyte count (ALC) was found to be statistically significant with p=0.0038**, p=0.0358*, and p=0.0216*, respectively, between all other clinical characteristics. There was no correlation between the PRAME gene expression and clinical parameters. PRAME gene expression in AL patients was highly expressed, comparable to studies reported globally with significant cytogenetic results. PRAME gene could be used as a potential diagnostic marker for monitoring the malignancies and minimal residual disease in AL.