Chromosomal aberration of the 11q23 locus in acute leukemia and frequency of MLL gene translocation -: results in 378 adult patients
Chromosomal aberration of the 11q23 locus in acute leukemia and frequency of MLL gene translocation -: results in 378 adult patients
复制标题
DOI：
10.1309/rx27r8gjqm330c22
复制
发表时间：
2004-08-01
影响因子：
3.5
通讯作者：
Amadori, S
中科院分区：
文献类型：
--
作者：
Cox, MC;Panetta, P;Amadori, S
带有MLL基因易位(MLL+)的11q23带(11q23+)的结构异常是一种反复出现的染色体改变，见于3%~7%的急性淋巴细胞白血病和3%~4%的急性髓系白血病。当易位伴侣具有端粒位置时，传统细胞遗传学(CC)检测11q23重排的分辨率是有限的；此外，CC几乎不能区分真正的11q23+/MLL+和聚集在11q22类似于25区的重排而不涉及MLL(MLL-)。我们用CC、荧光原位杂交(FISH)和多重核型分析(M-FISH)对378例成人急性白血病患者进行了鉴定。我们的目的是确定隐匿性MLL+病例的频率和11q22-25+病例中MLL+的频率。正如预期的那样，FISH在检测MLL+病例方面比CC更敏感，但出乎意料的是，在20例11q22类似于25+的患者中，有9例(45%)是MLL-。类似于25+/MLL-白血病的11q22的更好的特征与识别新的、反复发生的易位有关。此外，这些病例应该很容易与11q23+/MLL+病例区分开来。我们建议核型分析总是辅以分子或FISH方法来解开MLL重排。
Structural abnormality of the 11q23 band (11q23+) bearing the MLL gene translocation (MLL+) is a recurrent chromosome change observed in 3% to 7% of acute lymphoblastic leukemias and in 3% to 4% of acute myeloblastic leukemias. The resolution of conventional cytogenetics (CC) in detecting 11q23 rearrangement is limited when the translocative partner has a telomeric location; furthermore, CC can barely discriminate between true 11q23+/MLL+ and rearrangements clustering within the 11q22similar to25 region without MLL involvement (MLL-). We characterized a series of 378 consecutive patients with adult acute leukemia by using CC, fluorescence in situ hybridization (FISH), and multiplex karyotyping (M-FISH) analysis. Our aim was to define the frequency of cryptic MLL+ cases and the frequency of MLL+ within 11q22-25+ cases. As expected, FISH was more sensitive than CC in detecting MLL+ cases, but rather unexpectedly, 9 (45%) of 20 patients with 11q22similar to25+ were MLL-. A better characterization of 11q22similar to25+/MLL- leukemias is relevant for the identification of new, recurrent translocations. Moreover, these cases should be readily distinguishable from 11q23+/MLL+ cases. We recommend that karyotypic analysis always be complemented by molecular or FISH methods to unravel MLL rearrangements.