Yen Hsiu-Ju, Chen Shih-Hsiang, Chang Tsung-Yen, Yang Chao-Ping, Lin Dong-Tsamn, Hung Iou-Jih, Lin Kai-Hsin, Chen Jiann-Shiuh, Hsiao Chih-Cheng, Chang Tai-Tsung, Chang Te-Kao, Peng Ching-Tien, Lin Ming-Tsan, Jaing Tang-Her, Liu Hsi-Che, Jou Shiann-Tarng, Lu Meng-Yao, Cheng Chao-Neng, Sheen Jiunn-Ming, Chiou Shyh-Shin, Hung Giun-Yi, Wu Kang-Hsi, Yeh Ting-Chi, Wang Shih-Chung, Chen Rong-Long, Chang Hsiu-Hao, Yang Yung-Li, Chen Shu-Huey, Cheng Shin-Nan, Chang Yu-Hsiang, Chen Bow-Wen, Hsieh Yuh-Lin, Huang Fang-Liang, Ho Wan-Ling, Wang Jinn-Li, Chang Chia-Yau, Chao Yu-Hua, Lin Pei-Chin, Chen Yu-Chieh, Liao Yu-Mei, Lin Tung-Huei, Shih Lee-Yung, Liang Der-Cherng
Department of Pediatrics, Taipei Veterans General Hospital and School of Medicine, National Yang-Ming University, Taipei, Taiwan.
Department of Life Science, National Taiwan Normal University, Taipei, Taiwan.
Pediatr Blood Cancer. 2017 Oct;64(10). doi: 10.1002/pbc.26557. Epub 2017 Apr 24.
In childhood acute lymphoblastic leukemia (ALL), t(1;19)(q23;p13.3) with TCF3-PBX1 fusion is one of the most frequent translocations. Historically, it has been associated with poor prognosis. Intensive treatment, however, has improved its outcome. We determined the outcome of children with this genotype treated with contemporary intensive chemotherapy in Taiwan.
In Taiwan Pediatric Oncology Group 2002 ALL studies, genotypes were determined by cytogenetic analysis and/or reverse transcriptase polymerase chain reaction assay. Based on presenting features, immunophenotype and genotype, patients were assigned to one of the three risk groups: standard risk (SR), high risk (HR), or very high risk (VHR). The patients with t(1;19)/TCF3-PBX1 were treated in the HR arm receiving more intensive chemotherapy. The outcomes of patients with t(1;19)/TCF3-PBX1 were compared to that of patients with other subtypes of B-precursor ALL (B-ALL).
Of the 1,129 patients with B-ALL, 64 (5.7%) had t(1;19)/TCF3-PBX1; 51 of whom were treated in the HR arm, but 11 were treated in the VHR and 2 in the SR arm because of physician's preference. As a group, 64 patients with t(1;19)/TCF3-PBX1 had similar 5-year event-free survival (83.3 ± 4.8%) as those with TEL-AML1 (85.2 ± 3.4%, P = 0.984) or those with hyperdiploidy >50 (84.0 ± 3.1%, P = 0.748). The cumulative risk of any (isolated plus combined) central nervous system relapse among patients with t(1;19)/TCF3-PBX1 (8.7 ± 3.8%) tended to be higher than that of patients with TEL-AML1 (5.8 ± 2.3%, P = 0.749) or those with hyperdiploidy (4.1 ± 1.8%, P = 0.135), albeit the differences did not reach statistical significance.
With contemporary intensive chemotherapy, children with t(1;19)/TCF3-PBX1 fared as well as those with favorable genotypes (TEL-AML1 or hyperdiploidy).
在儿童急性淋巴细胞白血病（ALL）中，伴有TCF3 - PBX1融合的t(1;19)(q23;p13.3)是最常见的易位之一。从历史上看，它与预后不良相关。然而，强化治疗改善了其预后。我们确定了台湾地区接受当代强化化疗的具有这种基因型的儿童的预后情况。
在台湾儿科肿瘤学组2002年ALL研究中，通过细胞遗传学分析和/或逆转录酶聚合酶链反应测定确定基因型。根据临床表现、免疫表型和基因型，患者被分配到三个风险组之一：标准风险（SR）、高风险（HR）或极高风险（VHR）。伴有t(1;19)/TCF3 - PBX1的患者在接受更强化化疗的HR组接受治疗。将伴有t(1;19)/TCF3 - PBX1的患者的预后与B系前体ALL（B - ALL）其他亚型患者的预后进行比较。
在1129例B - ALL患者中，64例（5.7%）伴有t(1;19)/TCF3 - PBX1；其中51例在HR组接受治疗，但11例因医生的偏好而在VHR组接受治疗，2例在SR组接受治疗。总体而言，64例伴有t(1;19)/TCF3 - PBX1的患者的5年无事件生存率（83.3±4.8%）与伴有TEL - AML1的患者（85.2±3.4%，P = 0.984）或超二倍体>50的患者（84.0±3.1%，P = 0.748）相似。伴有t(1;19)/TCF3 - PBX1的患者中任何（孤立性加合并性）中枢神经系统复发的累积风险（8.7±3.8%）倾向于高于伴有TEL - AML1的患者（5.8±2.3%，P = 0.749）或超二倍体患者（4.1±1.8%，P = 0.135），尽管差异未达到统计学意义。
采用当代强化化疗，伴有t(1;19)/TCF3 - PBX1的儿童的预后与具有良好基因型（TEL - AML1或超二倍体）的儿童相同。
