The origin of deletion 22q11 in chronic lymphocytic leukemia is related to the rearrangement of immunoglobulin lambda light chain locus

被引：17
作者：
Mraz, Marek [1 ,2 ,3 ]
Kozubik, Katerina Stano [1 ,2 ,3 ]
Plevova, Karla [1 ,2 ,3 ]
Musilova, Katerina [1 ,2 ,3 ]
Tichy, Boris [1 ,2 ,3 ]
Borsky, Marek [2 ,3 ]
Kuglik, Petr [4 ]
Doubek, Michael [1 ,2 ,3 ]
Brychtova, Yvona [2 ,3 ]
Mayer, Jiri [1 ,2 ,3 ]
Pospisilova, Sarka [1 ,2 ,3 ]
机构：
[1] Masaryk Univ, Ctr Mol Med, CEITEC, Brno, Czech Republic
[2] Univ Hosp Brno, Dept Internal Med Hematol & Oncol, Brno 62500, Czech Republic
[3] Masaryk Univ, Fac Med, Brno, Czech Republic
[4] Masaryk Univ, Fac Med, Inst Expt Biol, Dept Genet & Mol Biol, Brno, Czech Republic
来源：
LEUKEMIA RESEARCH | 2013年 / 37卷 / 07期
基金：
欧盟第七框架计划;
关键词：
CLL; 22q11; Immunoglobulin lambda light chain locus; IGL; IGLV; PRAME; GENE; PRAME; EXPRESSION; ABERRATIONS; GUIDELINES; SURVIVAL; ANTIGEN; P53;
D O I：
10.1016/j.leukres.2013.03.018
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
The technology of array comparative genomic hybridization (array-CGH/aCGH) enabled the identification of novel genomic aberrations in chronic lymphocytic leukemia (CLL) including the monoallelic and biallelic deletions affecting 22q11 locus. In contrast to previous publications, we hypothesized that the described 22q11 deletions are a consequence of the rearrangement of immunoglobulin lambda light chain locus (IGL) segments surrounding several protein-coding genes located in this region. Indeed, using array-CGH and PCR analysis we show that all deletions (n = 7) affecting the 22q11 locus in our cohort (n = 40) are based on the physiological mechanism of IGL rearrangement. This demonstrates that this loss of genetic material is likely not pathogenic and in fact is merely a marker of IGL rearrangement. (C) 2013 Elsevier Ltd. All rights reserved.
引用
收藏
页码：802 / 808
页数：7
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