Diagnostic Outcomes of ERCP in a Cohort of 56 Patients: A Clinical Observational Study

Abstract

Objectives: Cytogenetic abnormalities significantly impact the prognosis of patients with chronic lymphocytic leukemia (CLL). Among these, deletion 13q14.3 is the most frequent abnormality detected by fluorescence in situ hybridization (FISH). This mutation is associated with a better prognosis. This study aimed to evaluate the frequency and prognostic significance of this mutation in the Pakistani population.

Materials and Methods: This retrospective study was conducted at Aga Khan University Hospital, Karachi, Pakistan, from January 2015 to December 2022. Hematological parameters and FISH data were obtained from the hospital’s electronic medical records. Progression-free survival (PFS) and overall survival (OS) were analyzed using Kaplan-Meier analysis, and the impact of FISH-detected mutations on the prognosis and outcomes of patients with CLL was evaluated.

Results: The most common mutations identified in the 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). Notably, 47% (n=99) of patients had no detectable mutations on FISH. Patients with the deletion 13q14.3 mutation exhibited a higher mean PFS (128.9 months, 95% CI: 114.4–143.5) compared to the overall patient cohort (68.1 months, 95% CI: 31.5–68.4). Additionally, these patients had a longer mean OS (127.0 months, 95% CI: 112–141) compared to the overall sample (67.0 months, 95% CI: 44.9–73.6).

Conclusion: This study demonstrates that deletion 13q14.3 is the most common cytogenetic abnormality in Pakistani patients with CLL and is associated with a better prognosis, as evidenced by significantly improved progression-free and overall survival.