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Abstract
Acute lymphoblastic leukemia is the most common malignancy of childhood, representing nearly one third of all pediatric cancers and three quarters of pediatric leukemias. Although the pathogenesis of the disease remains largely unknown, several investigations have focused on the role of cytogenetic aberrations, which may contribute to defective apoptosis, dysregulation of cell cycle regulatory genes, consequently expansion of malignant clone.
Despite its homogeneity at cellular level, ALL is clinically heterogeneous since some patients survive for a long time without therapy, while others progress towards more advanced stages and die despite aggressive treatment. These clinical observations have prompted numerous studies aimed at determining reliable prognostic markers capable of predicting the progression and outcome of the disease.
Several factors may play a crucial role in monitoring disease prognosis and predicting the possibility of minimal residual disease, such as age, sex, race, leukemic burden, initial TLC, Hb level, platelet count, immunophenotyping and genetic characterization.
Cytogenetic analysis has become increasingly sophisticated and has played a progressively large role in the diagnosis and management of ALL over the last few decades. This role is expected to expand as a reflection of technical innovations that facilitate cytogenetic analysis and greater knowledge of the clinical and molecular implications of both structural and numerical chromosomal aberrations in ALL.