Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, PR China.
Collaborative Innovation Center of Hematology, Institute of Blood and Marrow Transplantation, Soochow University, Suzhou, PR China.
Leuk Lymphoma. 2019 Dec;60(12):3051-3057. doi: 10.1080/10428194.2019.1607329. Epub 2019 Jul 1.
The prognostic significance of rare BCR-ABL1 transcripts is uncertain in the tyrosine kinase inhibitor (TKI) era. In this retrospective study, 40 (1.7%) patients with rare BCR-ABL1 transcripts were identified from a cohort of 2331 chronic myeloid leukemia (CML) patients; 4 types of rare transcripts were identified, including e1a2 (0.9%), e19a2 (0.4%), e13a3 (0.1%), and e14a3 (0.3%). Compared to patients with the typical transcript, those with the e1a2 transcript had an inferior response to TKIs and a worse outcome. Patients with the e19a2 transcript had a high rate of early optimal response to TKIs, but most of them later lost the complete cytogenetic response (CCyR) due to BCR-ABL1 mutations, resulting in a poor prognosis. Patients with the e13a3/e14a3 transcript responded well to TKIs and had a good outcome. These findings indicate that the type of BCR-ABL1 transcript should be considered when determining the treatment for CML patients in the TKI era.
在酪氨酸激酶抑制剂（TKI）时代，罕见 BCR-ABL1 转录本的预后意义尚不确定。在这项回顾性研究中，从 2331 例慢性髓性白血病（CML）患者队列中鉴定出 40 例（1.7%）罕见 BCR-ABL1 转录本患者；鉴定出 4 种罕见转录本，包括 e1a2（0.9%）、e19a2（0.4%）、e13a3（0.1%）和 e14a3（0.3%）。与具有典型转录本的患者相比，e1a2 转录本患者对 TKI 的反应较差，预后较差。e19a2 转录本患者对 TKI 有较高的早期最佳反应率，但由于 BCR-ABL1 突变，大多数患者后来失去了完全细胞遗传学反应（CCyR），导致预后不良。e13a3/e14a3 转录本患者对 TKI 反应良好，预后良好。这些发现表明，在 TKI 时代确定 CML 患者的治疗方案时应考虑 BCR-ABL1 转录本的类型。
