Frequency of Deletion 13q14.3 and Its Impact on Outcome in Patients of Chronic Lymphocytic Leukemia; A Single-Centered Institutional Study from Pakistan

Abstract

Objectives: To evaluate the frequency and prognostic significance of this mutation in the Pakistani population.

Methodology: A retrospective study was conducted at Aga Khan University Hospital, Karachi, Pakistan, from January 2015 to December 2022. A total of 150 patients of all ages, diagnosed with chronic lymphocytic leukemia (CLL) according to the National Cancer Institute Working Guidelines for CLL (lymphocytosis >5 x 10?/L, CD19+, CD5+, CD23+, CD20 weakly positive, and expression of either kappa or lambda light chains), who received treatment or follow-up at Aga Khan University Hospital, were included in the study. Hematological parameters and FISH study data were obtained from the hospital’s electronic records. Progression-free survival (PFS) and overall survival (OS) were determined using Kaplan-Meier analysis, and the effects of mutations detected via FISH on prognosis and outcomes in CLL patients were evaluated.

Results: The most common mutations in the patient sample were deletion 13q14.3 (27%, n=28 [out of 150]), deletion 11q22 (13%, n=10), trisomy 12 (7%, n=6), and TP53 mutations (6%, n=4). In total, 47% (n=99) of patients had no detectable mutations on FISH. Patients with a deletion 13q14.3 mutation had a higher mean progression-free survival (128.9 months, 95% CI: 114.4–143.5) compared to the overall patient sample (68.1 months, 95% CI: 31.5–68.4), as well as a longer mean overall survival (127.0 months, 95% CI: 112–141) compared to the overall patient sample (67.0 months, 95% CI: 44.9–73.6).

Conclusion: Our study demonstrates that deletion 13q14.3 is the most common mutation in Pakistani CLL patients and is associated with a better prognosis in this population