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. 2022 May;12(5):e892.
doi: 10.1002/ctm2.892.

Dynamic change of variant allele frequency reveals disease status, clonal evolution and survival in pediatric relapsed B-cell acute lymphoblastic leukaemia

Shuiyan Wu  1   2 , Lixia Liu  3 , Xinran Chu  1 , Jiajia Zheng  1 , Zixing Chen  4 , Li Gao  1 , Peifang Xiao  1 , Jun Lu  1 , Qi Ji  1 , Jing Ling  1 , Shanbo Cao  3 , Jian Pan  5 , Jiayue Qin  3 , Shaoyan Hu  1
Affiliations

Dynamic change of variant allele frequency reveals disease status, clonal evolution and survival in pediatric relapsed B-cell acute lymphoblastic leukaemia

Shuiyan Wu et al. Clin Transl Med. 2022 May.
No abstract available

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

FIGURE 1
FIGURE 1
Comparative analysis of mutation distribution in 21 patients with diagnosis‐relapse paired samples. (A) Histogram showing the comparison of mutated genes at diagnosis and relapse. Mutation at diagnosis and relapse is colored blue and red, respectively. (B) Volcano plot showing the comparison of functional pathways in which the mutated genes are involved at diagnosis and relapse. The horizontal axis represents the magnitude of association (log2 odds ratio), and the vertical axis indicates the ‐log2 p‐value. Each circle shows a functional pathway and the size of each circle indicates the frequency of the mutated gene involved in functional pathways. (C) Distribution of three mutation types, including diagnosis‐specific type (only present at diagnosis), relapse‐specific type (only present at relapse) and overlap type (present at both diagnosis and relapse) according to different pathways
FIGURE 2
FIGURE 2
Dynamic change of variant allele frequency (VAF) with serial next‐generation sequencing (NGS) assessments. (A) Comparison of VAFs at diagnosis and remission in 15 patients with diagnosis‐remission paired samples. (B) Comparison of VAFs at remission and relapse in 18 patients with remission‐relapse paired samples. (C) Comparison of VAFs at three different relapse stages in 24 relapsed patients, including very early, early and late relapse stage. Each point in different color represents an independent VAF mutation site. VAF, variant allele frequency; NGS, next‐generation sequencing
FIGURE 3
FIGURE 3
Relapse‐related clonal evolution patterns based on variant allele frequency (VAF). (A) Schematic diagram of three relapse‐related clonal evolution patterns, including relapse evolution from a genetically distinct clone, a major clone at diagnosis, and a subclone at diagnosis, named clonal evolution patterns A, B and C, respectively. Longitudinal analysis of VAF (B) and relapse‐related clonal evolution pattern (C) in three representative pediatric B‐ALL patients. The horizontal axis represents follow‐up time, and the vertical axis indicates VAF. Each point in different color represents an independent VAF mutation site. VAF, variant allele frequency; BM, bone marrow
FIGURE 4
FIGURE 4
Prognostic impact of variant allele frequency (VAF) on survival. Overall survival (OS) (A) and OS censored at the time of transplantation (B) of 24 relapsed pediatric B‐ALL patients with mean VAF ≥20% versus patients with mean VAF < 20% at relapse. VAF, variant allele frequency; OS, overall survival; SCT, transplantation
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