| Autor: |
Diying Shen, Lixia Liu, Xiaojun Xu, Hua Song, Jingying Zhang, Weiqun Xu, Fenying Zhao, Juan Liang, Chan Liao, Yan Wang, Tian Xia, Chengcheng Wang, Feng Lou, Shanbo Cao, Jiayue Qin, Yongmin Tang |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
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| Zdroj: |
BMC Pediatrics, Vol 23, Iss 1, Pp 1-10 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
1471-2431 |
| DOI: |
10.1186/s12887-023-03856-y |
| Popis: |
Abstract Purpose The 5-year survival rate of children with acute lymphoblastic leukemia (ALL) is 85–90%, with a 10–15% rate of treatment failure. Next-generation sequencing (NGS) identified recurrent mutated genes in ALL that might alter the diagnosis, classification, prognostic stratification, treatment, and response to ALL. Few studies on gene mutations in Chinese pediatric ALL have been identified. Thus, an in-depth understanding of the biological characteristics of these patients is essential. The present study aimed to characterize the spectrum and clinical features of recurrent driver gene mutations in a single-center cohort of Chinese pediatric ALL. Methods We enrolled 219 patients with pediatric ALL in our single center. Targeted sequencing based on NGS was used to detect gene mutations in patients. The correlation was analyzed between gene mutation and clinical features, including patient characteristics, cytogenetics, genetic subtypes, risk stratification and treatment outcomes using χ2-square test or Fisher’s exact test for categorical variables. Results A total of 381 gene mutations were identified in 66 different genes in 152/219 patients. PIK3R1 mutation was more common in infants (P = 0.021). KRAS and FLT3 mutations were both more enriched in patients with hyperdiploidy (both P |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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