Department of Hematology, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, China.
Medicine (Baltimore). 2024 Jan 19;103(3):e36728. doi: 10.1097/MD.0000000000036728.
Imatinib is a standard treatment for Philadelphia (Ph) chromosome-positive chronic myeloid leukemia (CML), but its efficacy in rare BCR::ABL variants is underexplored.
A 67-year-old woman was admitted to the Second Affiliated Hospital of Xi'an Jiaotong University in March 2022 due to elevated white blood cells.
Karyotype analysis revealed clonal abnormalities involving the variant t(9;22) and positive results for atypical BCR::ABL variants (e14a3 and e13a3). The clinical diagnosis was CML, chronic phase, Ph+, with rare BCR::ABL-e13a3- and BCR::ABL-e14a3-positive findings.
The patient was administered daily imatinib mesylate (400 mg).
After 4 weeks, a swift molecular response was observed: BCR::ABL-e13a3 transcript level at 2.82 × 10-1 (28.24%), and BCR::ABL-e14a3 transcript level at 4.68 × 10-1 (46.76%). Within 3 months, a complete cytogenetic response was achieved, with a Ph chromosome ratio of 0. Early molecular response was evident as BCR::ABL-e13a3 transcript level reached 5.11 × 10-3 (0.51%), and BCR::ABL-e14a3 transcript level at 6.26 × 10-3 (0.63%). The imatinib mesylate treatment continued without significant toxicity.
This case emphasizes the potential effectiveness of imatinib mesylate in managing rare BCR::ABL fusion gene variants of CML. Screening for these atypical variants is advised for suspected CML patients who test negative for common BCR::ABL fusion gene variants. The presented case underscores the positive outcomes achieved with imatinib treatment for a patient with rare BCR::ABL variants, contributing valuable insights for the management of similar cases. Screening for unusual fusion gene variants should be a consideration in CML diagnosis for comprehensive treatment strategies.
伊马替尼是治疗费城染色体阳性慢性髓性白血病（CML）的标准治疗方法，但对于罕见的 BCR::ABL 变体，其疗效尚未得到充分探索。
一位 67 岁女性因白细胞升高于 2022 年 3 月入住西安交通大学第二附属医院。
核型分析显示涉及变异 t(9;22)的克隆异常和非典型 BCR::ABL 变体（e14a3 和 e13a3）阳性结果。临床诊断为 CML，慢性期，Ph+，罕见 BCR::ABL-e13a3-和 BCR::ABL-e14a3-阳性。
给予患者每天服用甲磺酸伊马替尼（400mg）。
4 周后，观察到快速分子反应：BCR::ABL-e13a3 转录水平为 2.82×10-1（28.24%），BCR::ABL-e14a3 转录水平为 4.68×10-1（46.76%）。3 个月内达到完全细胞遗传学反应，Ph 染色体比例为 0。早期分子反应明显，BCR::ABL-e13a3 转录水平达到 5.11×10-3（0.51%），BCR::ABL-e14a3 转录水平为 6.26×10-3（0.63%）。甲磺酸伊马替尼治疗继续进行，无明显毒性。
该病例强调了甲磺酸伊马替尼治疗 CML 罕见 BCR::ABL 融合基因变体的潜在有效性。对于疑似 CML 患者，建议在常见 BCR::ABL 融合基因变体检测阴性时筛查这些非典型变体。该病例突出了甲磺酸伊马替尼治疗罕见 BCR::ABL 变体患者的良好结果，为类似病例的管理提供了有价值的见解。在 CML 诊断中，应考虑筛查不常见的融合基因变体，以制定全面的治疗策略。
