摘要目的 提高对EBF1-PDGFRB阳性费城染色体(Ph)样急性淋巴细胞白血病(ALL)诊断和治疗的认识.方法 报道苏州大学附属第一医院收治的1例EBF1-PDGFRB阳性Ph样ALL患者,采用全外显子测序检测EBF1-PDGFRB融合基因,采用荧光原位杂交进行微小残留病监测.先后予化疗、伊马替尼以及嵌合抗原受体T细胞(CAR-T)输注等综合治疗.结果 患者初诊时骨髓标本经全外显子测序检测到EBF1-PDGFRB融合基因,经过综合治疗后PDGFRB重排持续阴性,至截稿前患者获得持续分子生物学缓解已22个月.结论 联合化疗、CAR-T细胞输注及酪氨酸激酶抑制剂等综合治疗能促进EBF1-PDGFRB阳性Ph样ALL患者获得持续深度分子生物学缓解.

abstractsObjective To improve the understanding of the diagnosis and treatment of Philadelphia (Ph) chromosome-like acute lymphoblastic leukemia (ALL) with EBF1-PDGFRB-positive. Methods One case of Ph-like ALL with EBF1-PDGFRB-positive from the First Affiliated Hospital of Soochow University was reported. Whole exome sequencing was applied to detect the EBF1-PDGFRB fusion gene. Fluorescence in situ hybridization (FISH) was used to detect minimal residual disease. Comprehensive treatments including chemotherapy, imatinib and chimeric antigen T-cell (CAR-T) therapy were utilized. Results EBF1-PDGFRB fusion gene in the bone marrow samples was detected by using whole exome sequencing at early diagnosis. The rearrangement of PDGFRB showed continuous negative after comprehensive therapy. The patient achieved continuous molecular remission for 22 months. Conclusions The comprehensive treatments include combined chemotherapy, CAR-T therapy and tyrosine kinase inhibitor can promote the continuous of major molecular remission for EBF1-PDGFRB-positive Ph-like ALL patients.