Lee Dong Soon, Kim Young Ree, Cho Hyung Kyun, Lee Chung Kee, Lee Jee Hyung, Cho Han Ik
Department of Laboratory Medicine and Cancer Research Institute, Seoul National University College of Medicine, 28 Yongun-dong, Chongro-gu, Seoul 110-744, Korea.
Cancer Genet Cytogenet. 2005 Oct 15;162(2):176-8. doi: 10.1016/j.cancergencyto.2005.02.020.
TEL/AML1 (also known as ETV6/RUNX1) rearrangement is the most frequent genetic change in childhood B-acute lymphoblastic leukemia (ALL) and is associated with a favorable prognosis. Its presence in adult ALL, however, has been questionable, and any association between TEL/AML1 rearrangement and clinical prognosis is unknown. To reveal the presence and incidence of the TEL/AML1 rearrangement in adult ALL, we applied fluorescence in situ hybridization (FISH). We conducted extra-signal, dual-color fluorescence in situ hybridization (ES-FISH) for TEL/AML1 rearrangement on bone marrow cells from 74 adult ALL patients and analyzed the survival time. We demonstrated the TEL/AML1 rearrangement in 2 patients (2.7%) among 74 patients with ALL. Of 74 adult ALL patients, 3 (4.0%) showed deletion of the TEL gene without TEL/AML1 rearrangement. The mean survival time of patients with TEL/AML1+ALL and patients with cryptic TEL deletion was 33 and 5 months, respectively, whereas the mean survival time of 53 TEL/AML1-ALL patients was 16.7 months. TEL/AML1 rearrangement is not unique in childhood ALL, and cryptic TEL deletion without TEL/AML1 rearrangement was more frequent than the TEL/AML1 rearrangement in adult ALL. We recommend TEL/AML1 FISH in adult ALL patients because conventional cytogenetic studies so far have yielded uninformative results.
TEL/AML1（也称为ETV6/RUNX1）重排是儿童B系急性淋巴细胞白血病（ALL）中最常见的基因改变，且与预后良好相关。然而，其在成人ALL中的存在情况一直存在疑问，TEL/AML1重排与临床预后之间的任何关联也尚不清楚。为了揭示成人ALL中TEL/AML1重排的存在情况及发生率，我们应用了荧光原位杂交（FISH）技术。我们对74例成人ALL患者的骨髓细胞进行了用于TEL/AML1重排检测的额外信号双色荧光原位杂交（ES-FISH），并分析了生存时间。我们在74例ALL患者中的2例（2.7%）中证实了TEL/AML1重排。在74例成人ALL患者中，有3例（4.0%）显示TEL基因缺失但无TEL/AML1重排。TEL/AML1阳性ALL患者和隐匿性TEL缺失患者的平均生存时间分别为33个月和5个月，而53例TEL/AML1阴性ALL患者的平均生存时间为16.7个月。TEL/AML1重排在儿童ALL中并非独一无二，在成人ALL中，无TEL/AML1重排的隐匿性TEL缺失比TEL/AML1重排更为常见。我们建议对成人ALL患者进行TEL/AML1 FISH检测，因为迄今为止传统细胞遗传学研究结果并不明确。
