Gene Mutations Associated With Chronic Lymphocytic Leukemia (CLL) Among Saudi CLL Patients and Treatment Outcomes: A Single-Center Experience

Background Chronic lymphocytic leukemia (CLL) starts in white blood cells in the peripheral blood (stages 0 and 1). In CLL, leukemia cells often build up slowly. Many gene mutations are associated with CLL, such as trisomy 12, 13q14 deletion, and 17q deletion. Due to the lack of patients' disease characteristics, gene mutations, and treatment outcomes data among Saudi patients, this study aimed to identify the relation between the gene mutations of CLL and the treatment in King Abdulaziz Medical City (KAMC), Riyadh. Methods This cross-sectional study used data from the BESTCare hospital information system. The study included all patients diagnosed with CLL and confirmed by flow cytometry in KAMC, Riyadh, between January 2010 and October 2020. The data included demographic information, mutation type or chromosome, present comorbidity, and type of treatment. Results The study included 100 CLL patients. According to different types of clusters of differentiation (CD), CD5 was positive in 84 (84%) patients, and 88 (88%) patients were positive for CD19. Cytogenetic remarkers were tested, revealing that 21 (21%) patients with trisomy 12 and 20 (20%) were positive for 13q14 deletion. Observation of patients' disease status based on the cytogenetic remarkers showed that out of 15 patients with trisomy, 12 (80%) had not progressed and were stable and alive. Out of 20 patients with 13q14 deletion, 16 (80%) were alive and 13 (65%) patients were stable. Conclusion CLL patients in KAMC, Riyadh, displayed trisomy 12, which is characterized by the worst prognosis of disease status, as the most frequently detected cytogenetic aberration followed by 13q deletion. However, most patients were stable and alive.