Complex TP53 Alterations with del(17p) and del(13q) in Chronic Lymphocytic Leukemia: Clinical Implications from a...

Chronic lymphocytic leukemia (CLL) is a genetically heterogeneous disease in which TP53 alterations represent major adverse prognostic factors; this study aims to describe the clinical implications of complex TP53 disruption in a rare case context. Molecular and cytogenetic profiling was performed using MLPA for copy number variations and targeted next-generation sequencing for mutation detection, following DNA extraction from peripheral blood and standardized bioinformatic analysis pipelines. The patient exhibited concomitant del(13q14) and del(17p13), alongside two pathogenic TP53 mutations, indicating functional inactivation of p53 and a high-risk genomic profile; despite this, treatment with a Bruton's tyrosine kinase inhibitor resulted in significant hematological improvement within six months. These findings highlight that adverse TP53 alterations override favorable cytogenetic markers and emphasize the necessity of comprehensive genomic testing to guide prognosis and personalized therapy in CLL.