Droplet digital polymerase chain reaction assay for the detection of the minor clone of KIT D816V in paediatric acute myeloid leukaemia especially showing RUNX1-RUNX1T1 transcripts.
Droplet digital polymerase chain reaction assay for the detection of the minor clone of KIT D816V in paediatric acute myeloid leukaemia especially showing RUNX1-RUNX1T1 transcripts.
复制标题
液滴数字聚合酶链反应测定用于检测儿童急性髓性白血病中 KIT D816V 的小克隆，特别是显示 RUNX1-RUNX1T1 转录本。
DOI：
10.1111/bjh.17569
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发表时间：
2021
影响因子：
6.5
通讯作者：
Ito S
中科院分区：
文献类型：
--
作者：
Sasaki K;Tsujimoto S;Miyake M;Uchiyama Y;Ikeda J;Yoshitomi M;Shimosato Y;Tokumasu M;Matsuo H;Yoshida K;Ohki K;Kaburagi T;Yamato G;Hara Y;Takeuchi M;Kinoshita A;Tomizawa D;Taga T;Adachi S;Tawa A;Horibe K;Hayashi Y;Matsumoto N;Ito S
特别报告称，外显子17内的KITD 816 V突变是RUNX 1-RUNX 1 T1儿童急性髓性白血病（AML）的不良预后因素之一。诊断时KITD 816 V微小克隆的确切频率和预后影响未进行检查。在这项研究中，检测了次要克隆，并研究了KITD 816 V突变在儿科患者中的预后意义。因此，在335名儿科患者中确定了24个KITD 816 V突变（7.2%），24个中有12个仅通过数字液滴聚合酶链反应方法检测到。所有12例患者均局限于核心结合因子（CBF）-AML患者。KITD 816 V突变患者的5年无事件生存率显著低于无KITD 816 V突变患者（分别为44.1% [95%置信区间（CI），16.0%-69.4%] vs. 74.7% [95% CI，63.0%-83.2%]P值= 0.02）。两组的5年总生存率无差异（分别为92.9% [95% CI，59.0%-NA vs. 89.7% [95% CI，69.6%-96.8%]P值= 0.607）。在本研究中，CBF-AML患者中的KITD 816 V次要克隆得到证实，KITD 816 V被认为是RUNX 1-RUNX 1 T1-阳性AML患者复发的风险因素。
KITD816V mutation within exon 17 has been particularly reported as one of the poor prognostic factors in pediatric acute myeloid leukemia (AML) withRUNX1‐RUNX1T1. The exact frequency and the prognostic impact ofKITD816V minor clones at diagnosis were not examined. In this study, the minor clones were examined and the prognostic significance ofKITD816V mutation in pediatric patients was investigated. Consequently, 24KITD816V mutations (7.2%) in 335 pediatric patients were identified, and 12 of 24 were only detected via the digital droplet polymerase chain reaction method. All 12 patients were confined in core binding factor (CBF)‐AML patients. The 5 year event‐free survival of the patients withKITD816V mutation was significantly inferior to those withoutKITD816V mutation (44.1% [95% confidence interval (CI), 16.0%–69.4%] vs. 74.7% [95% CI, 63.0%–83.2%]P‐value = 0.02, respectively). The 5 year overall survival was not different between the two groups (92.9% [95% CI, 59.0%–NA vs. 89.7% [95% CI, 69.6%–96.8%]P‐value = 0.607, respectively). In this study,KITD816V minor clones in patients with CBF‐AML were confirmed andKITD816V was considered as a risk factor for relapse in patients withRUNX1‐RUNX1T1‐positive AML.