Sanger测序（SS）是检测患有费城染色体阳性急性淋巴细胞白血病（Ph + ALL）患者ABL1激酶区（KD）突变最常用的方法，但是它无法检测到低水平的突变。最近，滴定数字聚合酶链反应（ddPCR）已经被开发成为一种敏感的检测血液肿瘤突变的技术。我们的研究目的是探讨ddPCR在检测ABL1 KD突变方面的价值。我们比较了SS和ddPCR在连续65名年轻人和成人Ph + ALL患者的ABL1 KD突变检测方面的结果，在强化多药化疗加TKI治疗中。在诊断时，SS和ddPCR分别鉴定出65名患者中1（1.5％）和26（40％）个有积极ABL1 KD突变的患者。在诊断时通过ddPCR检测到的T315I突变在使用一代或二代TKI治疗期间都展示出SS-detectable T315I突变，没有T315I突变在诊断时通过ddPCR检测到的展示有限的预测影响。我们的研究表明，ddPCR是一种高度敏感和准确的突变检测方法，治疗前T315I突变的存在表现出了一代或二代TKI治疗环境中的预测意义。©2023 John Wiley&Sons Ltd。

Sanger sequencing (SS) is the most frequently used method for detecting ABL1 kinase domain (KD) mutations in patients with Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL). However, it cannot detect low levels of mutation. Recently, droplet digital polymerase chain reaction (ddPCR) has been developed as a sensitive technique for detecting mutations in hematological neoplasms. The aim of our study was to explore the value of ddPCR in detecting ABL1 KD mutations.We compared the results of SS and ddPCR in detecting ABL1 KD mutations in a consecutive cohort of 65 adolescent and adult patients with Ph+ ALL treated with intensive multiagent chemotherapy plus TKIs.At diagnosis, SS and ddPCR identified 1 (1.5%) and 26 (40%) out of 65 patients with positive ABL1 KD mutations, respectively. Patients with T315I mutations detected by ddPCR at diagnosis all developed SS-detectable T315I mutations during treatment with first- or second-generation TKIs, and non-T315I mutations detected by ddPCR at diagnosis displayed a limited prognostic impact.Our study demonstrates that ddPCR is a highly sensitive and accurate mutation detection method and the presence of T315I mutations before treatment shows prognostic significance in the context of first- or second-generation TKIs.© 2023 John Wiley & Sons Ltd.