Detection of minimal residual disease in acute lymphoblastic leukemia by next-generation sequencing of IG/TCR
Objective:To compare the immunoglobulin(IG)/T cell receptor(TCR)rearrangement next-genera-tion sequencing(NGS)with other methods of minimal residual disease(MRD)detection in acute lymphoblastic leu-kemia(ALL),and evaluating the value of IG/TCR rearrangement NGS in monitoring MRD.Methods:A retro-spective analysis was conducted on 25 ALL patients admitted to our hospital from September 2018 to December 2023.The MRD was determined by using NGS,flow cytometry(FCM)and real-time quantitative PCR(q-PCR).Results:Three or more abnormal clones were detected by NGS in 48.0％of patients at initial diagnosis.The main residual clone of 81.3％of patients after treatment was consistent with the highest frequency clone at initial diag-nosis.Among the 69 FCM MRD-negative(MRDneg)samples,24 cases(34.8％)were NGS MRD-positive(MRD-pos),and the median MRD level was 4.13 × 10-5,which was significantly lower than that of FCM MRDpos pa-tients(4.70 × 10-3)(P＜0.05).In Ph+ALL patients,the positive rates of MRD detected by NGS,q-PCR and FCM were 59.1％,50.0％and 27.3％,respectively.The MRD positive rate of NGS was higher than that of FCM(P=0.035).Among the 16 FCM MRDneg samples,7 cases(43.8％)were NGS MRDpos.The median MRD level was 1.99X10-5,which had a decrease compared with the NGS/FCM MRDpos group,but there was no significant difference(P＞0.05).Among the 11 q-PCR MRDneg samples,3 cases(27.3％)were NGS MRDpos,and the median MRD level was 7.59 × 10-6,which showed a decreasing trend compared with the NGS/q-PCR MRDpos group(P=0.053).Conclusion:The MRD detection sensitivity and depth of NGS are better than that of FCM.NGS also showed advantages over q-PCR in the detection of sensitivity and depth in Ph+ALL patients.NGS of IG/TCR is an effective method to ensure sufficient MRD detection depth.
NETL
NSTL
万方数据
