Jabber Al-Obaidi M S, Martineau M, Bennett C F, Franklin I M, Goldstone A H, Harewood L, Jalali G R, Prentice H G, Richards S M, Roberts K, Harrison C J
LRF/UKCCG Karyotype Database in ALL, Department of Haematology, The Royal Free and University College Medical School, London, UK.
Leukemia. 2002 Apr;16(4):669-74. doi: 10.1038/sj.leu.2402435.
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.
首次对159例成年急性淋巴细胞白血病（ALL）患者采用ETV6和AML1探针进行双色间期荧光原位杂交（FISH），以检测t(12;21)(p13;q22)易位。发现7例患者（4.4%）有50 - 100%的阳性细胞，其中2例经检测，1例逆转录聚合酶链反应（RT-PCR）显示融合产物为阴性。其中2例患者年龄分别为43岁和50岁，是目前已确诊有该易位的年龄最大的患者。3例分别在10个月、11个月和24个月复发，提示成人患者可能不像报道的t(12;21)阳性儿童那样有良好的短期预后。31例阴性病例的信号数与每个基因预期的两个信号不同。15例结果与核型一致。9例细胞遗传学结果不明确的病例，其信号数与着丝粒信号数一致，提示存在隐匿性非整倍体。细胞遗传学未怀疑2例ETV6基因缺失和另3例AML1基因扩增。总之，FISH被证明在确定该组患者ETV6/AML1阳性方面可靠，同时也为阴性病例提供了有价值的见解。
