Liang D C, Chou T B, Chen J S, Shurtleff S A, Rubnitz J E, Downing J R, Pui C H, Shih L Y
Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
Leukemia. 1996 Jun;10(6):991-3.
Despite its rarity by routine karyotypic analysis, cryptic t(12;21)(p12-13;q22) translocation leading to TEL/AML1 fusion has been recognized as the most frequent genetic rearrangement in childhood acute lymphoblastic leukemia (ALL) in two recent studies, one from France and the other from the United States. To estimate the frequency of this abnormality in the Chinese population, we studied 41 children with ALL and 17 with acute myeloid leukemia (AML) in two medical centers in Taiwan, using the reverse transcriptase polymerase chain reaction (RT-PCR) assay. Results of this analysis demonstrated a 17% frequency of this translocation in the ALL population overall and 19% in patients with B-lineage ALL, similar to previous findings in Caucasian children. None of the patients with AML had TEL/AML1 fusion transcripts. In addition to its association with the B-lineage immunophenotype, TEL/AML1 was also correlated with a low presenting leukocyte count and favorable age (1-10 years). These findings, combined with earlier reports, indicate that TEL/AML1 fusion is the most frequent genetic abnormality in childhood ALL, regardless of race. Molecular diagnosis of t(12;21)-positive ALL may identify a subgroup of patients who do not require intensive treatment for cure.
尽管通过常规核型分析其较为罕见，但导致TEL/AML1融合的隐匿性t(12;21)(p12 - 13;q22)易位在最近两项研究中已被确认为儿童急性淋巴细胞白血病（ALL）中最常见的基因重排，一项研究来自法国，另一项来自美国。为了评估该异常在中国人群中的发生率，我们在台湾的两个医疗中心，使用逆转录聚合酶链反应（RT-PCR）检测法，对41例ALL患儿和17例急性髓细胞白血病（AML）患儿进行了研究。该分析结果显示，ALL人群中该易位的发生率总体为17%，B系ALL患者中为19%，这与之前在白种儿童中的发现相似。AML患者中无一例有TEL/AML1融合转录本。除了与B系免疫表型相关外，TEL/AML1还与低就诊时白细胞计数及适宜年龄（1 - 10岁）相关。这些发现，结合早期报告，表明无论种族如何，TEL/AML1融合都是儿童ALL中最常见的基因异常。t(12;21)阳性ALL的分子诊断可能会识别出一组无需强化治疗即可治愈的患者亚群。
