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Updated: Mar 19, 2026

Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
Published on: November 26, 2018
[The genetic landscape of chronic lymphocytic leukemia]
Dóra Marosvári1, Donát Alpár1, Attila Péter Király1
1Semmelweis Egyetem, MTA-SE Lendület Molekuláris Onkohematológia Kutatócsoport, I. Sz. Patológiai és Kísérleti Rákkutató Intézet, Budapest, Hungary. bodor.csaba1@med.semmelweis-univ.hu.
Abstract:
Chronic lymphocytic leukemia (CLL) is the most frequent mature B-cell non-Hodgkin's lymphoma in the Western countries. The recent next-generation sequencing (NGS) studies lead to an exponential increase in our knowledge of the pathogenesis and progression of CLL. Whole genome and exome sequencing studies revealed a remarkable inter- and intra-patient genetic heterogeneity with a significant therapy-induced clonal evolution in the majority of the patients. Driver mutations were identified in components of various signalling pathways and cellular processes with notable prognostic and therapeutic relevance. Interestingly, these studies revealed only a few genes mutated in at least 15-20% of the patients with a larger number of genes mutated in a smaller proportion of patients. This improved understanding of the genomic landscape of CLL has opened new avenues for a more precise patient stratification and rational application of novel, more effective targeted therapies.
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