ETV6/AML1 fusion by FISH in adult acute lymphoblastic leukemia
ETV6/AML1 fusion by FISH in adult acute lymphoblastic leukemia
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DOI：
10.1038/sj.leu.2402435
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发表时间：
2002-04
期刊：
影响因子：
11.4
通讯作者：
MS Jabber Al-Obaidi;M. Martineau;C. Bennett;I. Franklin;A. Goldstone;L. Harewood;G. Jalali;H. Prentice;S. Richards;K. Roberts;C. Harrison;O. B. O. K. R. D. W. Party-O.-B.-O.-K.-R.-D.-W.-Party-1412460831
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文献类型：
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作者：
MS Jabber Al-Obaidi;M. Martineau;C. Bennett;I. Franklin;A. Goldstone;L. Harewood;G. Jalali;H. Prentice;S. Richards;K. Roberts;C. Harrison;O. B. O. K. R. D. W. Party-O.-B.-O.-K.-R.-D.-W.-Party-1412460831
应用ETV 6和AML 1双色间期荧光原位杂交（FISH）技术，对159例成人急性淋巴细胞白血病（ALL）患者进行t（12; 21）（p13; q22）易位检测。7例患者（4.4%）被发现，与50-100%的阳性细胞，其中两个测试，其中一个被证明是阴性的融合产物通过RT-PCR。其中两名年龄分别为43岁和50岁，是迄今为止被证实患有易位的最年长的患者。三名在10个月、11个月和24个月复发的患者表明，成人可能不像t（12; 21）阳性儿童那样享有良好的短期预后。31例阴性病例的信号数与每个基因预期的两个不同。其中15例与染色体核型一致。在9例无信息的细胞遗传学，数字与着丝粒一致，并表示一个隐藏的非整倍体。2例ETV 6基因缺失和3例AML 1扩增从细胞遗传学上未怀疑。总之，FISH被证明是可靠的，在定义ETV 6/AML 1阳性，在这组患者，以及提供有价值的见解阴性病例。
Dual-color interphase fluorescence in situ hybridization (FISH) with ETV6 and AML1 probes was used for the first time on a series of 159 adult patients with acute lymphoblastic leukemia (ALL), for detection of the t (12; 21)(p13; q22) translocation. Seven patients (4.4%) were found, with 50–100% of positive cells, of whom one of two tested, proved negative for the fusion product by RT-PCR. Two of them, aged 43 and 50 years, are the oldest patients so far confirmed to have the translocation. Three who relapsed at 10, 11 and 24 months, suggest that adults may not enjoy the good short-term prognosis reported for t (12; 21)-positive children. Thirty-one-negative cases had signal numbers differing from the two expected for each gene. In 15 cases these results were consistent with the karyotype. In nine cases with uninformative cytogenetics, the numbers were consistent with those for centromeres and indicated a hidden aneuploidy. Loss of ETV6 genes in two cases and AML1 amplification in three others were not suspected from the cytogenetics. In conclusion, FISH proved to be reliable in defining ETV6/AML1 positivity in this group of patients as well as providing valuable insights into negative cases.