Evaluation of the cytogenetic profile in patients with acute leukaemia.

Abstract

Acute leukaemia (AL) is aheterogeneous neoplastic disease that occurs by thegrowth ofabnormal lymphoid and myeloid cells in thebone marrow and blood leading to acute myeloid leukaemia (AML) and acute lymphocytic leukaemia (ALL). Conventional cytogenetics is acharacteristic technique to hunch chromosomal abnormalities, it helps in thediagnosis and therapeutic approach ofthedisease by themolecular cytogenetics technique offluorescence in situ hybridization (FISH). Chromosomal abnormalities in AL are performed by karyotyping to confirm specific chromosomal abnormalities using FISH. Thedescriptive study included 42 clinically diagnosed AL patients. Karyotyping analysis was performed using thestandard 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 oft(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 theloss ofchromosomes causing potential risk. Composite karyotype, rare t(3;3) double minutes, +11,+13, del(9q), and del(Xq) were thenovel findings reported in theSouth Canara region ofKarnataka. Despite other molecular techniques, conventional cytogenetics remains thebaseline in thediagnosis ofmalignancies.