Institute of Hematology "L. and A. Seràgnoli", Department of Experimental, Diagnostic and Specialty Medicine, S.Orsola-Malpighi University Hospital, University of Bologna, Bologna, Italy.
Institut für Medizinische Informationsverarbeitung, Biometrie und Epidemiologie (IBE), Ludwig-Maximilians-Universität München, Munich, Germany.
Leukemia. 2019 May;33(5):1173-1183. doi: 10.1038/s41375-018-0341-4. Epub 2019 Jan 23.
There are different BCR-ABL1 fusion genes that are translated into proteins that are different from each other, yet all leukemogenic, causing chronic myeloid leukemia (CML) or acute lymphoblastic leukemia. Their frequency has never been systematically investigated. In a series of 45503 newly diagnosed CML patients reported from 45 countries, it was found that the proportion of e13a2 (also known as b2a2) and of e14a2 (also known as b3a2), including the cases co-expressing e14a2 and e13a2, was 37.9% and 62.1%, respectively. The proportion of these two transcripts was correlated with gender, e13a2 being more frequent in males (39.2%) than in females (36.2%), was correlated with age, decreasing from 39.6% in children and adolescents down to 31.6% in patients ≥ 80 years old, and was not constant worldwide. Other, rare transcripts were reported in 666/34561 patients (1.93%). The proportion of rare transcripts was associated with gender (2.27% in females and 1.69% in males) and with age (from 1.79% in children and adolescents up to 3.84% in patients ≥ 80 years old). These data show that the differences in proportion are not by chance. This is important, as the transcript type is a variable that is suspected to be of prognostic importance for response to treatment, outcome of treatment, and rate of treatment-free remission.
存在不同的 BCR-ABL1 融合基因，它们翻译成的蛋白质彼此不同，但都是白血病形成性的，导致慢性髓细胞白血病（CML）或急性淋巴细胞白血病。它们的频率从未被系统地研究过。在来自 45 个国家的 45503 例新诊断的 CML 患者的一系列报告中，发现 e13a2（也称为 b2a2）和 e14a2（也称为 b3a2）的比例分别为 37.9%和 62.1%，包括同时表达 e14a2 和 e13a2 的病例。这两种转录本的比例与性别相关，e13a2 在男性（39.2%）中比在女性（36.2%）中更为常见，与年龄相关，从儿童和青少年的 39.6%下降到≥80 岁患者的 31.6%，并且在全球范围内并不恒定。在 34561 例患者中的 666 例（1.93%）中报告了其他罕见的转录本。罕见转录本的比例与性别（女性为 2.27%，男性为 1.69%）和年龄相关（从儿童和青少年的 1.79%到≥80 岁患者的 3.84%）。这些数据表明，比例的差异并非偶然。这很重要，因为转录本类型是一个被怀疑对治疗反应、治疗结果和无治疗缓解率具有预后意义的变量。
