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Abstract Chronic lymphocytic leukemia (CLL) is an indolent B cell lymphoproliferative disorder characterized by the clonal proliferation of CD5+CD23+ B-cells in blood, bone marrow, spleen and secondary lymphoid tissues. It is a widely heterogeneous disease due to its different clinical courses and responses to treatment. So, In order to enhance the outcome of the disease and to increase the OS, each patient should be thoroughly assessed. Several prognostic tools are used to predict the patient outcome such as the Rai and Binet staging system, IGHV mutational status, ZAP70 and CD38 and Serum markers including B2m and LDH. Then, Cytogenetic abnormalities detected by FISH such as deletion 13q, deletion 17p and TP53 deletion emerged as one of the most vital and reliable prognostic markers. Recently, the emergence of Next generation sequencing technologies have led to the breakthrough discovery of the crucial role of genetic coding and noncoding mutations in CLL; namely TP53, NOTCH1, BIRC3, ATM and MYD88. NOTCH1 has emerged as one of the most frequent gene mutations having a significant prognostic relevance in CLL. The present work aimed at the study of the mutational status of NOTCH1 gene in CLL and its correlation with the other well established prognostic markers as LDH, B2m, CD38, ZAP-70, as well as cytogenetic aberrations including TP53 deletion. |