Kettani Mobachir El, Shah Kashish, Farooq Hareem, Li Ke, Badar Talha
Division of Hematology-Oncology and Blood and Marrow Transplantation and Cellular Therapy Program, Mayo Clinic, Jacksonville, FL, USA.
Department of Laboratory Medicine and Pathology, Mayo Clinic, Florida, USA.
Leuk Res Rep. 2024 Jul 26;22:100471. doi: 10.1016/j.lrr.2024.100471. eCollection 2024.
This case report explains an extraordinary presentation of chronic myeloid leukemia (CML) in a 39-year-old male with a T315I mutation, presenting with acute bilateral hearing loss and imbalance secondary to myeloid blast crisis. Neurological involvement was confirmed through MRI brain and cerebrospinal fluid analysis. Initial treatment with ponatinib and FLAG (fludarabine, cytarabine, G-CSF) regimen showed promise, but complications necessitated discontinuation. The patient's complex clinical trajectory, marked by complications and intolerance to tyrosine kinase inhibitors, highlights the intricate nature of CML blast crisis with T315I mutation management. Recognizing atypical presentations and early mutation analysis are pivotal for tailored treatment strategies.
本病例报告阐述了一名39岁男性慢性髓性白血病(CML)的特殊表现,该患者存在T315I突变,因髓系原始细胞危象继发急性双侧听力丧失和平衡失调。通过脑部MRI和脑脊液分析确诊为神经系统受累。最初使用波纳替尼和FLAG(氟达拉滨、阿糖胞苷、粒细胞集落刺激因子)方案进行治疗显示出希望,但并发症导致治疗中断。该患者复杂的临床病程,以并发症和对酪氨酸激酶抑制剂不耐受为特征,凸显了T315I突变型CML原始细胞危象管理的复杂性。识别非典型表现和早期进行突变分析对于制定个性化治疗策略至关重要。