Clinical Significance of Cytogenetic Abnormalities Detected by FISH in CLL: Insights from a Real-World Single-Centre Cohort

Year 2025, Volume: 15 Issue: 2, 135 - 144, 29.08.2025

Ayşe Gül Bayrak Tokaç , Simge Erdem , Gülçin Bağatır , Ender Coşkunpınar , Kübra Gündüz , Okan Cetın , Abdullah Savaş , Mustafa Nuri Yenerel , Şükrü Palanduz

https://doi.org/10.26650/experimed.1659966

Abstract

Objective: Chronic lymphocytic leukemia (CLL) is a hematologic malignancy that predominantly affects the elderly. This study aimed to investigate cytogenetic alterations that could be used for risk assessment and treatment decisions in patients with CLL in relation to clinical parameters and outcomes.

Materials and Methods: Peripheral blood samples from 101 CLL patients either newly diagnosed or previously diagnosed but untreated were analyzed using interphase fluorescence in situ hybridization (I-FISH) method with a CLL panel probe set. The associations among cytogenetic abnormalities, clinical features, treatment indications, and outcomes were statistically evaluated.

Results: FISH analysis revealed statistically significant associations between specific cytogenetic abnor malities and clinical features. del(13q) and ATM deletion were significantly associated with large/sympto matic/progressive lymphadenopathy (LAP); ATM deletion was also linked to progressive splenomegaly. Regarding the causes of death, P53 deletion was significantly associated with secondary solid neoplasms and acute decompensated heart failure; trisomy 12 with disease progression and secondary solid neoplasms; and immunoglobulin heavy chain gene (IGH) rearrangement with tumor lysis syndrome. No significant difference in the overall survival was observed between the treated and untreated CLL patients.

Conclusion: If validated in larger, multicenter cohorts, the novel associations identified between cytogenetic abnormalities and both treatment indications and causes of death could help guide the management of CLL.

Keywords

Chronic lymphocytic leukemia , Fluorescence in situ hybridization , Prognosis , Cytogenetic abnormalities , Clinical marker

Ethical Statement

This study was obtained from the Istanbul Medical Faculty Clinical Research Ethics Committee (Decision date/number: November 17, 2023/23).

Thanks

The authors would like to thank Dr. Ali Uçur, who passed away during the pandemic, for his great support in molecular cytogenetic analysis.

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