Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) is a subtype of B-lineage ALL (B-ALL) that displays a gene expression profile (GEP) similar to Philadelphia chromosome-positive ALL (Ph+ ALL). It has a diverse range of genetic alterations that activate cytokine receptor genes and kinase signaling pathways, frequently accompanied by abnormal transcription factors related to lymphatic development. Children with Ph-like ALL account for 15% of children with high-risk B-ALL. It has adverse clinical features and a poor prognosis. Tyrosine kinase inhibitors combined with chemotherapy can significantly improve the prognosis of children with Ph+ ALL, suggesting that targeted therapy based on the molecular cytogenetic abnormalities of Ph-like ALL has good research prospects. This paper expounds the genetic alterations, pathogenesis, clinical features, diagnostic measures, and potential therapeutic approaches of Ph-like childhood ALL based on recent research progress in Ph-like ALL.
费城染色体样急性淋巴细胞白血病（Ph-like ALL）是一组基因表达谱与费城染色体阳性ALL（Ph+ALL）相似的B-ALL（B-lineage ALL）亚群，涉及一系列细胞因子受体基因及激酶信号通路异常活化的相关基因改变，并常伴淋系发育相关转录因子异常。Ph-like ALL在高危组儿童B-ALL的比例高达15%，其临床特征与不良预后相一致。酪氨酸激酶抑制剂（TKIs）联合化疗显著改善儿童Ph+ALL预后提示基于Ph-like ALL分子遗传学异常的精准靶向治疗具有良好的研究前景。该文结合近年Ph-like ALL的相关研究进展，对儿童Ph-like ALL的基因改变及发病机制、临床特征、诊断及治疗进行综述。