Validation of an interphase fluorescence in situ hybridization approach for the detection of MLL gene rearrangements and of the MLL/AF9 fusion in acute myeloid leukemia

被引:0
|
作者
Cavazzini, Francesco [1 ]
Bardi, Antonella [1 ]
Tammiso, Elisa [1 ]
Ciccone, Maria [1 ]
Russo-Rossi, Antonella [1 ]
Divona, Domenica [2 ]
Lo Coco, Francesco [3 ]
Maria Hernandez, Jesus [4 ,5 ]
Wlodarska, Iwona [6 ]
Hagemeijer, Anne [6 ]
Castoldi, Gianluigi [1 ]
Cuneo, Antonio [1 ]
机构
[1] Univ Ferrara, Sez Ematol, Dipartimento Sci Biomed & Terapie Avanzate, Via Savonarola 9, I-44100 Ferrara, Italy
[2] Univ Roma La Sapienza, Chair Haematol, Rome, Italy
[3] Univ Tor Vergata, Inst Haematol, Rome, Italy
[4] Univ Salamanca, CSIC, Serv Hematol, Hosp Univ Salamanca, Salamanca, Spain
[5] Univ Salamanca, CSIC, Ctr Invest Canc, Salamanca, Spain
[6] Univ Leuven, Ctr Human Genet, Leuven, Belgium
关键词
cytogenetics; FISH; MLL; acute leukemia;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
To validate a 2-step FISH assay for the identification of the t(9;11)(p22;q23), 96 acute myeloid leukemias were studied by cytogenetic analysis, FISH and molecular biology. After a first FISH step using an MLL probe, 24/27 cases with 11q23 break showed MLL rearrangement. Southern blotting confirmed FISH data. In the second step, 24 cases with MLL rearrangement were studied using MLL and AF9 probes: 17/18 cases with t(9;11) showed MLL/AF9 fusion. In 6 patients with 11q23/MLL rearrangements other than t(9;11), FISH confirmed MLL involvement and excluded AF9 involvement. This is a reliable method for the identification of MLL/AF9 fusion in interphase cells, allowing for a reclassification of cases with suboptimal chromosome morphology. The frequency of deletion surrounding MLL and AF9 breakpoint is low.
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收藏
页码:381 / 385
页数:5
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