Characteristics of fusion gene expression in acute lymphoblastic leukemia.
10.3760/cma.j.cn112151-20211028-00781
- Author:
Xian Qi HUANG
1
;
Ya Ni LIN
2
;
En Bin LIU
2
;
Fei XING
2
;
Zhe WANG
3
;
Xue Jing CHEN
2
;
Long CHEN
2
;
Jing Ting MA
2
;
Ying Chang MI
3
;
Kun RU
2
Author Information
1. State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China SINO-US Diagnostics Lab Tianjin Enterprise Key Laboratory of AI-aided Hematopathology Diagnosis, Tianjin 300385, China.
2. SINO-US Diagnostics Lab Tianjin Enterprise Key Laboratory of AI-aided Hematopathology Diagnosis, Tianjin 300385, China.
3. State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China.
- Publication Type:Journal Article
- MeSH:
Adolescent;
Adult;
Aged;
Aged, 80 and over;
Child;
Child, Preschool;
Gene Expression;
Genes, ras;
Humans;
Infant;
Infant, Newborn;
Middle Aged;
Oncogene Fusion;
Precursor Cell Lymphoblastic Leukemia-Lymphoma/metabolism*;
Retrospective Studies;
Young Adult
- From:
Chinese Journal of Pathology
2022;51(4):307-313
- CountryChina
- Language:Chinese
-
Abstract:
Objective: To analyze the genetic landscape of 52 fusion genes in patients with de novo acute lymphoblastic leukemia (ALL) and to investigate the characteristics of other laboratory results. Methods: The fusion gene expression was retrospectively analyzed in the 1 994 patients with de novo ALL diagnosed from September 2016 to December 2020. In addition, their mutational, immunophenotypical and karyotypical profiles were investigated. Results: In the 1 994 patients with ALL, the median age was 12 years (from 15 days to 89 years). In the panel of targeted genes, 15 different types of fusion genes were detected in 884 patients (44.33%) and demonstrated a Power law distribution. The frequency of detectable fusion genes in B-cell ALL was significantly higher than that in T-cell ALL (48.48% vs 18.71%), and fusion genes were almost exclusively expressed in B-cell ALL or T-cell ALL. The number of fusion genes showed peaks at<1 year, 3-5 years and 35-44 years, respectively. More fusion genes were identified in children than in adults. MLL-FG was most frequently seen in infants and TEL-AML1 was most commonly seen in children, while BCR-ABL1 was dominant in adults. The majority of fusion gene mutations involved signaling pathway and the most frequent mutations were observed in NRAS and KRAS genes. The expression of early-stage B-cell antigens varied in B-cell ALL patients. The complex karyotypes were more common in BCR-ABL1 positive patients than others. Conclusion: The distribution of fusion genes in ALL patients differs by ages and cell lineages. It also corresponds to various gene mutations, immunophenotypes, and karyotypes.
