Molekulární prognostické markery chronické lymfocytární leukemie a jejich klinický význam

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Title in English Molecular prognostic markers and their clinical relevance in chronic lymphocytic leukemia
Authors

NAVRKALOVÁ Veronika KANTOROVÁ Barbara JAROŠOVÁ M. POSPÍŠILOVÁ Šárka

Year of publication 2015
Type Article in Periodical
Magazine / Source Klinická onkologie
MU Faculty or unit

Faculty of Medicine

Citation
Doi http://dx.doi.org/10.14735/amko20153S6
Field Oncology and hematology
Keywords chronic lymphocytic leukemia; biological markers; chromosome aberations; mutations; prognosis
Description Chronic lymphocytic leukemia is the most common leukemia in Western countries affecting particularly elderly adults. Despite the constantly improving therapy options, chronic lymphocytic leukemia is still an incurable disease owing to considerable clinical and biological heterogeneity. Pathogenesis of chronic lymphocytic leukemia is not fully understood; however, aberrant antigenic stimulation, apoptosis deregulation and microenvironmental interactions play a crucial role in disease development. The most important molecular prognostic markers with clinical relevance include mutation status of heavy-chain immunoglobulin genes (IGHV), presence of cytogenetic aberrations and TP53 and ATM gene mutations. Recent implementation of next generation sequencing technologies has enabled more accurate analysis of both well-established and novel potential prognostic markers. The most relevant candidates are mutations in SF3B1, NOTCH! and BIRC3 genes, which are now intensively studied with respect to their clinical importance. The other examined molecular mechanisms of chronic lymphocytic leukemia pathogenesis include deregulation of B-cell receptor signalization and abnormal regulation of gene expression by microRNA. The precise characterization of molecular abnormalities improves the risk stratification of chronic lymphocytic leukemia patients, which could possibly benefit from new treatment approaches.
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