Genetics and epigenetics of CLL

被引：2

作者：

Paul, Pamella ^{[1
]}

Stuessi, Georg ^{[1
]}

Bruscaggin, Alessio ^{[2
]}

Rossi, Davide ^{[1
,2
,3
,4
]}

机构：

[1] Oncol Inst Southern Switzerland, Dept Hematol, Bellinzona, Switzerland

[2] Inst Oncol Southern Switzerland, Inst Oncol Res, Lab Expt Hematol, Bellinzona, Switzerland

[3] Oncol Inst Southern Switzerland, Dept Hematol, CH-6500 Bellinzona, Switzerland

[4] Inst Oncol Res, CH-6500 Bellinzona, Switzerland

来源：

LEUKEMIA & LYMPHOMA | 2023年 / 64卷 / 03期

关键词：

Genetic and other predisposing conditions; CLL; epigenetics; CHRONIC LYMPHOCYTIC-LEUKEMIA; DNA METHYLATION; RECURRENT MUTATIONS; CELL; PROGNOSIS; EVOLUTION; IBRUTINIB; HYPOMETHYLATION; EXPRESSION; SUBGROUPS;

D O I：

10.1080/10428194.2022.2153359

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Chronic lymphocytic leukemia (CLL) has a heterogeneous biological behavior, which is highly influenced by its immunogenetic, epigenetic, and genomic properties. The remarkably variable clinical course of the disease has been associated with genetic features such as chromosomal abnormalities, the presence of either high or low numbers of somatic hypermutations (SHM) in the variable region of the immunoglobulin heavy chain locus (IGHV), and somatic mutations of several specific driver genes. Next-generation sequencing (NGS) technologies have provided a comprehensive characterization of the genomic and epigenomic landscape in CLL, elucidating important underlying mechanisms of the disease's biology. The scope of this review is to summarize the most recent discoveries about novel genetic and epigenetic alterations, discussing their impact on clinical outcomes and response to currently available therapy.

引用

页码：551 / 563

页数：13

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