TP53 aberrations in chronic lymphocytic leukemia: an overview of the clinical implications of improved diagnostics

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Publikace nespadá pod Ústav výpočetní techniky, ale pod Středoevropský technologický institut. Oficiální stránka publikace je na webu muni.cz.
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CAMPO E. CYMBALISTA F. GHIA P. JAGER U. POSPÍŠILOVÁ Šárka ROSENQUIST R. SCHUH A. STILGENBAUER S.

Rok publikování 2018
Druh Článek v odborném periodiku
Časopis / Zdroj haematologica
Fakulta / Pracoviště MU

Středoevropský technologický institut

Citace
Doi http://dx.doi.org/10.3324/haematol.2018.187583
Klíčová slova IN-SITU HYBRIDIZATION; OPEN-LABEL; MUTATION ANALYSIS; DISEASE PROGRESSION; CLONAL EVOLUTION; FOLLOW-UP; GENETIC-CHARACTERIZATION; GENOMIC ABERRATIONS; RECURRENT MUTATIONS; SEQUENCE VARIANTS
Popis Chronic lymphocytic leukemia is associated with a highly heterogeneous disease course in terms of clinical outcomes and responses to chemoimmunotherapy. This heterogeneity is partly due to genetic aberrations identified in chronic lymphocytic leukemia cells such as mutations of TP53 and/or deletions in chromosome 17p [del(17p)], resulting in loss of one TP53 allele. These aberrations are associated with markedly decreased survival and predict impaired response to chemoimmunotherapy thus being among the strongest predictive markers guiding treatment decisions in chronic lymphocytic leukemia. Clinical trials demonstrate the importance of accurately testing for TP53 aberrations [both del(17p) and TP53mutations] before each line of treatment to allow for appropriate treatment decisions that can optimize patients' outcomes. The current report reviews the diagnostic methods to detect TP53 disruption better, the role of TP53 aberrations in treatment decisions and current therapies available for patients with chronic lymphocytic leukemia carrying these abnormalities. The standardization in sequencing technologies for accurate identification of TP53 mutations and the importance of continued evaluation of TP53 aberrations throughout initial and subsequent lines of therapy remain unmet clinical needs as new therapeutic alternatives become available.
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