The Prevalence of Cytogenetic Abnormalities Detected by Interphase FISH Method in Chronic Lymphocytic Leukemia

Chronic lymphocytic leukemia (CLL) is the most prevalent adult leukemia. Identification of genomic aberration provides prognostic/predictive information that is helpful in the precision medicine management of these patients. The aim of this study was to determine prevalence of the most common cytogenetic abnormalities of CLL patients in the southwest region (Shiraz) of Iran and correlate with clinical prognostic parameters to clarify their prognostic value.

In this cross-sectional study, 100 patients with CLL were recruited from April 2019 to October 2021. Four milliliters of anticoagulated peripheral blood was collected from each participant. The sample was used for complete blood count (CBC) test and fluorescence in situ hybridization (FISH) test. Interphase FISH (I-FISH) was performed for most common cytogenetic abnormalities, including trisomy 12, 13q14 deletion, 11q deletion, and 17p deletion on interphasic cell nuclei.

Among 100 patients with CLL, 33 (33%) were females and 67 (67%) were males. The mean age (mean ± standard error [SE]) of the patients was 59.00 ± 1.14 years, with a ranged of 25 to 79 years. Our analysis demonstrated that 86 (86%) patients had at least one chromosomal aberration. The most commonly detected abnormality was 13q deletion (61, 61%), followed by 17q deletion (50 cases, 50%). Trisomy 12 was detected in 14 (14%) cases and 10 cases (10%) had 11q deletion.

The higher frequency of 13q14 and 17p anomalies in our study may be attributed to delayed medical consultations, leading to the emergence of secondary abnormalities. More studies are recommended for verifying the results.