Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.
Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA.
Blood. 2024 May 23;143(21):2178-2189. doi: 10.1182/blood.2023023120.
Acute lymphoblastic leukemia (ALL) with fusions of ABL-class tyrosine kinase genes other than BCR::ABL1 occurs in ∼3% of children with ALL. The tyrosine kinase genes involved in this BCR::ABL1-like (Ph-like) subtype include ABL1, PDGFRB, ABL2, and CSF1R, each of which has up to 10 described partner genes. ABL-class ALL resembles BCR::ABL1-positive ALL with a similar gene expression profile, poor response to chemotherapy, and sensitivity to tyrosine kinase inhibitors (TKIs). There is a lack of comprehensive data regarding TKI sensitivity in the heterogeneous group of ABL-class ALL. We observed variability in TKI sensitivity within and among each ABL-class tyrosine kinase gene subgroup. We showed that ALL samples with fusions for any of the 4 tyrosine kinase genes were relatively sensitive to imatinib. In contrast, the PDGFRB-fused ALL samples were less sensitive to dasatinib and bosutinib. Variation in ex vivo TKI response within the subset of samples with the same ABL-class tyrosine kinase gene was not associated with the ALL immunophenotype, 5' fusion partner, presence or absence of Src-homology-2/3 domains, or deletions of IKZF1, PAX5, or CDKN2A/B. In conclusion, the tyrosine kinase gene involved in ABL-class ALL is the main determinant of TKI sensitivity and relevant for specific TKI selection.
急性淋巴细胞白血病(ALL)伴 ABL 类酪氨酸激酶基因融合,而非 BCR::ABL1,发生在约 3%的 ALL 患儿中。涉及这种 BCR::ABL1 样(Ph 样)亚型的酪氨酸激酶基因包括 ABL1、PDGFRB、ABL2 和 CSF1R,每个基因都有多达 10 个描述的伙伴基因。ABL 类 ALL 与 BCR::ABL1 阳性 ALL 相似,具有相似的基因表达谱、对化疗反应差和对酪氨酸激酶抑制剂(TKI)敏感。ABL 类 ALL 异质性群体中缺乏关于 TKI 敏感性的综合数据。我们观察到在每个 ABL 类酪氨酸激酶基因亚组内和之间 TKI 敏感性的可变性。我们表明,融合了 4 个酪氨酸激酶基因中的任何一个的 ALL 样本对伊马替尼相对敏感。相比之下,PDGFRB 融合的 ALL 样本对达沙替尼和博舒替尼的敏感性较低。在具有相同 ABL 类酪氨酸激酶基因的样本亚组中,体外 TKI 反应的变异性与 ALL 免疫表型、5'融合伙伴、Src 同源性-2/3 结构域的存在与否或 IKZF1、PAX5 或 CDKN2A/B 的缺失无关。总之,ABL 类 ALL 中涉及的酪氨酸激酶基因是 TKI 敏感性的主要决定因素,与特定 TKI 的选择相关。