中国慢性淋巴细胞白血病的下一代测序分子特征：一项单中心回顾性分析。

Molecular characteristics in Chinese with chronic lymphocytic leukemia by next-generation sequencing: A single-center retrospective analysis.

机构信息

Jiangsu Institute of Hematology, National Clinical Research Center for Hematologic Diseases, NHC Key Laboratory of Thrombosis and Hemostasis, the First Affiliated Hospital of Soochow University, Soochow University, Suzhou, China.

Institute of Blood and Marrow Transplantation, Collaborative Innovation Center of Hematology, Soochow University, Suzhou, China.

出版信息

Int J Lab Hematol. 2023 Dec;45(6):908-916. doi: 10.1111/ijlh.14143. Epub 2023 Aug 8.

DOI:10.1111/ijlh.14143

PMID:37551448

Abstract

INTRODUCTION

Although the prevalence of Asian chronic lymphocytic leukemia (CLL) patients is not as high as that of Caucasians, there are more atypical CLLs in Asia whose genetic characteristics and their clinical significance are distinct and remain unclear.

METHODS

A retrospective analysis of 85 CLL samples in our center was conducted from 2019 to 2022. We used next-generation sequencing with a 172 gene panel to explore the multi-gene mutational data and the mutational status of immunoglobulin heavy variable (IGHV) gene.

RESULTS

MYD88 (20.0%) was the most frequently mutated gene, much higher than in Europe, followed in order by TP53 (18.8%), NOTCH1 (14.1%), IGLL5 (11.8%), and DNMT3A (8.2%). In addition, the incidence of ATM and SF3B1 mutations was relatively lower in our centre compared to Europe. Mutated (M)-IGHV patients were more likely to have a cooccurrence of MYD88 mutation, while complex karyotype and DNMT3A mutation were more common in the unmutated (U)-IGHV group. MYD88 mutated CLL was characterized by prevalence in young males in high-risk staging, with isolated 13q deletion and concomitant mutation of IGLL5. CLL patients with MYD88 and TP53 mutation showed an unfavorable prognosis.

CONCLUSION

These results would be valuable in helping to understand the characteristics and significance of cytogenetic genetics in Chinese patients with CLL.

摘要

简介

虽然亚洲慢性淋巴细胞白血病（CLL）患者的患病率不如白种人高，但亚洲有更多不典型的 CLL，其遗传特征及其临床意义明显不同，目前仍不清楚。

方法

对 2019 年至 2022 年我院的 85 例 CLL 样本进行回顾性分析。我们使用了包含 172 个基因的下一代测序技术，以探讨多基因突变数据和免疫球蛋白重链可变区（IGHV）基因的突变状态。

结果

MYD88（20.0%）是最常发生突变的基因，明显高于欧洲，其次是 TP53（18.8%）、NOTCH1（14.1%）、IGLL5（11.8%）和 DNMT3A（8.2%）。此外，与欧洲相比，我们中心 ATM 和 SF3B1 突变的发生率相对较低。突变（M）-IGHV 患者更有可能同时发生 MYD88 突变，而复杂核型和 DNMT3A 突变在未突变（U）-IGHV 组中更为常见。MYD88 突变的 CLL 以高风险分期的年轻男性中普遍存在、孤立的 13q 缺失和 IGLL5 同时突变为特征。具有 MYD88 和 TP53 突变的 CLL 患者预后不良。