Jiang Yijing, Zhang Jie, Guo Dan, Zhang Chenlu, Hong Lemin, Huang Hongming, Liu Haiyan
Department of Hematology, The Affiliated Hospital of Nantong University, Nantong 226001, Jiangsu, People's Republic of China.
Department of Oncology, Affiliated Tumor Hospital of Nantong University, Nantong 226361, Jiangsu, People's Republic of China.
Onco Targets Ther. 2020 Jan 24;13:783-790. doi: 10.2147/OTT.S238336. eCollection 2020.
Acute lymphoblastic leukemia (ALL) is a malignant disease characterized by lymphocytic B-line or T-line cells abnormally proliferating in the bone marrow or extramedullary sites. BCR/ABL1 fusion protein in patients with ALL accounts for acts in 15-30% of B-lineage ALL cases, usually in adolescence. However, entire ABL1 gene deletion without BCR/ABL1 rearrangement is a rare phenomenon in ALL patients. Here we describe the first case of entire ABL1 gene deletion without BCR/ABL1 rearrangement in a female B-ALL patient. Relevant literature is reviewed to explain the association between ABL1 deletion and the pathogenesis/prognosis of this disease. ABL gene deletion can repress the activation of p53 and p73, and disrupt TGF-β signaling pathway to allow malignant cells to invade the normal tissue. The clinical significance of ABL gene deletion needs to be further explored.
急性淋巴细胞白血病（ALL）是一种恶性疾病，其特征是骨髓或髓外部位的B淋巴细胞系或T淋巴细胞系细胞异常增殖。ALL患者中的BCR/ABL1融合蛋白在15%至30%的B系ALL病例中起作用，通常发生在青少年期。然而，在ALL患者中，无BCR/ABL1重排的整个ABL1基因缺失是一种罕见现象。在此，我们描述了首例无BCR/ABL1重排的整个ABL1基因缺失的女性B-ALL患者。回顾相关文献以解释ABL1缺失与该疾病发病机制/预后之间的关联。ABL基因缺失可抑制p53和p73的激活，并破坏TGF-β信号通路，从而使恶性细胞侵袭正常组织。ABL基因缺失的临床意义有待进一步探索。
