Jak klinicky interpretovat výsledky TP53 analýz u chronické lymfocytární leukemie v kontextu dostupných terapeutických režimů

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Title in English How to clinically interpret the results of TP53 analyses in chronic lymphocytic leukaemia in the context of available therapeutic regimens
Authors

KUNT VONKOVÁ Barbara PAVLOVÁ Šárka MALČÍKOVÁ Jitka PÁL Karol BRYCHTOVÁ Yvona PANOVSKÁ Anna POSPÍŠILOVÁ Šárka DOUBEK Michael

Year of publication 2023
Type Article in Periodical
Magazine / Source Transfuze a Hematologie Dnes
MU Faculty or unit

Central European Institute of Technology

Citation
Web https://www.prolekare.cz/casopisy/transfuze-hematologie-dnes/2023-2-16/jak-klinicky-interpretovat-vysledky-tp53-analyz-u-chronicke-lymfocytarni-leukemie-v-kontextu-dostupnych-terapeutickych-rezimu-134623
Doi http://dx.doi.org/10.48095/cctahd2023
Keywords chronic lymphocytic leukaemia; TP53 mutations; clonal evolution; FCR
Attached files
Description TP53 gene mutations represent the most important adverse prognostic and predictive factor in patients with chronic lymphocytic leukaemia (CLL) and contribute to an overall worse disease course and risk of early relapse or resistance to chemoimmunotherapy. Results to date suggest that first-line chemoimmunotherapy (FCR) results in clonal selection of TP53 aberrant cells, which has an adverse effect on disease prognosis. Recent studies investigating the clonal evolution of TP53 mutations under BCR and Bcl-2 inhibitor therapy do not suggest a similar trend. Next-generation sequencing (NGS) methods are being increasingly used in the clinical diagnosis of TP53 aberrations, achieving sensitivity of allelic frequency detection below 10% compared to standard Sanger sequencing. In recent years, the focus of CLL research has been on TP53 gene mutations with allelic frequencies below 10% and their clinical significance. In the following review article, we summarize the results published so far on the clonal evolution of TP53 gene mutations under different therapeutic regimens, especially with respect to mutations with an allelic frequency < 10% and their clinical interpretation.
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