Refractory acute T-lymphoblastic leukemia (T-ALL), which is characterized by a low sensitivity to conventional induction therapy and poor prognosis, poses significant challenges during treatment. This study reported a case of refractory T-ALL patient with mutations in the JAK1, JAK3, and STAT5B genes from Nanjing University's Gulou Hospital. Following an unsuccessful course of standard VDLP regimen chemotherapy, the treatment was modified to include ruxolitinib in combination with venetoclax and azacitidine. Subsequent to this therapy, the patient achieved bone marrow minimal residual disease (MRD) negativity. Notably, pleural effusion and mediastinal mass significantly improved the post-chest cavity infusion of dexamethasone combined with etoposide at the same stage. The patient also underwent allogeneic hematopoietic stem cell transplantation upon achieving bone marrow remission and was followed up until January 2024. Ruxolitinib combined with venetoclax and azacytidine has shown promising efficacy and safety in treating refractory T-ALL harboring the JAK1, JAK3, and STAT5B mutations, providing a novel therapeutic approach for such patients.
难治性急性T淋巴细胞白血病（T-ALL）在常规诱导缓解过程中对药物敏感性低、整体预后差。南京大学附属鼓楼医院报道了1例伴JAK1、JAK3、STAT5B基因突变的难治性T-ALL患者。标准VDLP（长春地辛、柔红霉素、培门冬酶、地塞米松）方案诱导化疗1个疗程后患者疾病未缓解，调整治疗方案为芦可替尼联合维奈克拉及阿扎胞苷。经治疗后，患者骨髓微小残留病（MRD）转阴，同阶段予以地塞米松联合依托泊苷胸腔灌注治疗后，患者胸腔积液及纵隔肿块较前明显好转。该患者骨髓缓解后行异基因造血干细胞移植，随访至移植后17个月，病情持续缓解。芦可替尼联合维奈克拉及阿扎胞苷治疗伴有JAK1、JAK3、STAT5B突变的难治性T-ALL疗效及安全性良好，为此类患者的治疗提供了新思路。.