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This research describes the clinical implications of complex TP53 disruptions in chronic lymphocytic leukemia.

July 1, 2026Open Access

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

BBBeáta BallaUniversitatea de Medicină, Farmacie, Științe și Tehnologie „George Emil Palade” din Târgu Mureș ACAndrei CrauciucUniversitatea de Medicină, Farmacie, Științe și Tehnologie „George Emil Palade” din Târgu Mureș ELErzsebet LazarUniversitatea de Medicină, Farmacie, Științe și Tehnologie „George Emil Palade” din Târgu Mureș

Key Points

This research describes the clinical implications of complex TP53 disruptions in chronic lymphocytic leukemia.
Performed molecular and cytogenetic profiling using MLPA for copy number variations.
Utilized targeted next-generation sequencing for mutation detection after DNA extraction from blood.
Conducted bioinformatic analysis to interpret genomic data.
Patient exhibited del(13q14) and del(17p13) along with two pathogenic TP53 mutations indicating p53 inactivation.
Treatment with a Bruton’s tyrosine kinase inhibitor led to significant hematological improvement within six months.
Adverse TP53 alterations were shown to override favorable cytogenetic markers.

Abstract

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.

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