PAX5 Alterations in a Consecutive Childhood B-Cell Acute Lymphoblastic Leukemia Cohort Treated Using the ALL IC-BFM 2009 Protocol

多重连接依赖探针扩增 桑格测序 医学 生殖系 队列 融合基因 肿瘤科 乘客5人 神经母细胞瘤RAS病毒癌基因同源物 基因 遗传学 突变 生物 内科学 外显子 转录因子 克拉斯
作者
Klementina Črepinšek,Nika Klobučar,Tine Tesovnik,Robert Šket,Barbara Jenko Bizjan,Jernej Kovač,Marko Kavčič,Tomaž Prelog,Lidija Kitanovski,Janez Jazbec,Maruša Debeljak
出处
期刊:Cancers [Multidisciplinary Digital Publishing Institute]
卷期号:16 (6): 1164-1164 被引量:1
标识
DOI:10.3390/cancers16061164
摘要

In this study, we aimed to identify patients within our B-ALL cohort with altered PAX5. Our objective was to use a comprehensive analysis approach to characterize the types of genetic changes, determine their origin (somatic/germline), and analyze the clinical outcomes associated with them. A consecutive cohort of 99 patients with B-ALL treated at the Children’s Hospital of the UMC Ljubljana according to the ALL IC-BFM 2009 protocol was included in our study. We used RNA sequencing data for gene expression analysis, fusion gene detection and single nucleotide variant identification, multiplex-ligation dependent probe amplification for copy number variation assessment, and Sanger sequencing for germline variant detection. PAX5 was impacted in 33.3% of our patients, with the genetic alterations ranging from CNVs and rearrangements to SNVs. The most common were CNVs, which were found in more than a third of patients, followed by point mutations in 5.2%, and gene rearrangements in 4.1%. We identified eight patients with a PAX5-associated genetic subtype that were previously classified as “B-other”, and they showed intermediate outcomes. We showed higher minimal residual disease values at the end of induction and poorer event-free survival in hyperdiploid cases carrying duplications in PAX5 compared to other hyperdiploid cases. We also report an interesting case of a patient with PAX5::FKBP15 and a pathogenic variant in PTPN11 who underwent an early relapse with a monocytic switch. In conclusion, this study provides valuable insights into the presence, frequency, and prognostic significance of diverse PAX5 alterations in B-ALL patients, highlighting the complexity of genetic factors and their impact on patient outcomes.
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