Nguyen Thao T, Tamai Minori, Harama Daisuke, Kagami Keiko, Komatsu Chiaki, Kasai Shin, Akahane Koshi, Goi Kumiko, Inukai Takeshi
Department of Pediatrics, University of Yamanashi, Chuo, JPN.
Cureus. 2024 Dec 28;16(12):e76538. doi: 10.7759/cureus.76538. eCollection 2024 Dec.
The T315I-inclusive compound mutation, the multiple mutations including the T315I mutation on the same BCR::ABL1 gene, confers resistance to diverse tyrosine kinase inhibitors (TKIs). Development of the F311I/T315I compound mutation has been reported in chronic myeloid leukemia patients who sequentially showed clinical resistance to imatinib and dasatinib. The establishment of a human leukemia model with the T315I-inclusive compound mutation remains an experimental challenge. Here, we introduced the F311I/T315I compound mutation into the intrinsic BCR::ABL1 gene of a human TKI-sensitive Philadelphia chromosome-positive leukemia cell line via homologous recombination using the CRISPR/Cas9 system and obtained three types of sublines: the F311I mutation alone, the T315I mutation alone, and the F311I/T315I compound mutation. The F311I subline was sensitive to dasatinib but moderately resistant to imatinib and nilotinib, while the T315I subline and the F311I/T315I subline were highly resistant to these TKIs. Notably, the T315I subline and the F311I/T315I subline were sensitive to therapeutic concentrations of ponatinib, although more resistant than the F311I subline. Moreover, the T315 subline and the F311I/T315 subline were sensitive to asciminib at therapeutic concentration, as was the F311I subline. This is the first human leukemia model in which the impact of the T315I-inclusive compound mutation on TKI sensitivity was directly confirmed.
包含T315I的复合突变,即在同一BCR::ABL1基因上包括T315I突变在内的多个突变,赋予了对多种酪氨酸激酶抑制剂(TKI)的耐药性。在慢性髓性白血病患者中已报道了F311I/T315I复合突变的发生,这些患者先后对伊马替尼和达沙替尼产生了临床耐药性。建立具有包含T315I的复合突变的人类白血病模型仍然是一项实验挑战。在此,我们通过使用CRISPR/Cas9系统进行同源重组,将F311I/T315I复合突变引入人类TKI敏感的费城染色体阳性白血病细胞系的内源性BCR::ABL1基因中,并获得了三种亚系:单独的F311I突变、单独的T315I突变以及F311I/T315I复合突变。F311I亚系对达沙替尼敏感,但对伊马替尼和尼罗替尼有中度耐药性,而T315I亚系和F311I/T315I亚系对这些TKI具有高度耐药性。值得注意的是,T315I亚系和F311I/T315I亚系对泊那替尼的治疗浓度敏感,尽管比F311I亚系耐药性更强。此外,T315亚系和F311I/T315亚系对治疗浓度的asciminib敏感,F311I亚系也是如此。这是第一个直接证实包含T315I的复合突变对TKI敏感性影响的人类白血病模型。