Mutational features of immunoglobulin heavy chain variable region gene in patients with chronic lymphocytic leukemia.
10.3760/cma.j.cn112151-20220309-00159
- VernacularTitle:慢性淋巴细胞白血病免疫球蛋白重链可变区突变特点分析
- Author:
Yue Hua LI
1
;
Xian Qi HUANG
2
;
Ya Ni LIN
1
;
Xue Jing CHEN
1
;
Long CHEN
1
;
En Bin LIU
1
;
Ying Chang MI
2
;
Kun RU
1
Author Information
1. Tianjin Sino-US Diagnostics Laboratory, Tianjin Enterprise Key Laboratory of AI-aided Hematopathology Diagnosis, Tianjin 300385, China.
2. State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin 300020, China.
- Publication Type:Journal Article
- MeSH:
Male;
Female;
Humans;
Leukemia, Lymphocytic, Chronic, B-Cell/genetics*;
Immunoglobulin Variable Region/genetics*;
Genes, Immunoglobulin Heavy Chain;
Mutation;
Immunoglobulin Heavy Chains/genetics*;
Prognosis
- From:
Chinese Journal of Pathology
2022;51(11):1135-1140
- CountryChina
- Language:Chinese
-
Abstract:
Objective: To investigate the mutational features of the immunoglobulin heavy chain variable region (IgHV) gene in patients with chronic lymphocytic leukemia (CLL) using immunophenotypic and molecular genetic methods. Methods: The laboratory results of 266 CLL patients who underwent IgHV gene examination at Sino-US diagnostics laboratory from February 2020 to February 2021 were analyzed for the IgVH mutational status and presence of specific IgVH fragments. In addition, their immunophenotypic, molecular, chromosomal karyotypic, and FISH profiles were investigated and correlated with the IgVH mutational status. Results: Among 266 patients, 172 were male and 94 were female, with a media age of 67 years (20-82 years).There were more patients with mutated IgHV (m-IgHV) than unmutated IgHV (un-IgHV) (69.2%∶30.8%). There was association of VH family and the presence of gene fragments: the overall incidence of VH families including VH3 family (142/266, 53.4%), VH4 family (75/266, 28.2%), and VH1 family (34/266, 12.8%) was about 95%, among which the proportion of VH4-34 (26/266, 9.8%), VH3-23 (25/266, 9.4%), VH3-7 (24/266, 9.0%), and VH4-39 (16/266, 6.0%) was about 35%. VH3-20 and VH3-49 only occurred in un-IgHV (P<0.05). In addition, the expression rates of CD38 (26.3% vs. 3.0%), CD79b (71.1%∶45.5%) and 11q deletion (25.5%∶5.3%) were higher in un-IgHV, and single trisomy 12 (37.9%∶5.6%) were more commonly found in m-IgHV (P<0.05). MYD88 was one of the major mutation genes in m-IgHV, while ATM had the highest mutation rate in un-IgHV. Conclusion: CLL patients have differential expression in terms of IgHV gene mutations, correlating to their immunophenotype and genetics characteristics.
