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
相关论文
共 50 条
  • [41] PREFERENTIAL LINKAGE OF BCL-2 TO IMMUNOGLOBULIN LIGHT CHAIN GENE IN CHRONIC LYMPHOCYTIC-LEUKEMIA
    ADACHI, M
    TEFFERI, A
    GREIPP, PR
    KIPPS, TJ
    TSUJIMOTO, Y
    JOURNAL OF EXPERIMENTAL MEDICINE, 1990, 171 (02): : 559 - 564
  • [42] Frequent somatic deletion of the 13q12.3 locus encompassing BRCA2 in chronic lymphocytic leukemia
    GarciaMarco, JA
    Caldas, C
    Price, CM
    Wiedemann, LM
    AShworth, A
    Catovsky, D
    BLOOD, 1996, 88 (05) : 1568 - 1575
  • [43] Multimodal MRI reveals structural connectivity differences in 22q11 deletion syndrome related to impaired spatial working memory
    O'Hanlon, Erik
    Howley, Sarah
    Prasad, Sarah
    McGrath, Jane
    Leemans, Alexander
    McDonald, Colm
    Garavan, Hugh
    Murphy, Kieran C.
    HUMAN BRAIN MAPPING, 2016, 37 (12) : 4689 - 4705
  • [44] Presence of immunoglobulin heavy chain gene (IGH) Translocations in chronic lymphocytic leukemia is related to poor prognosis
    Nowakowski, Grzegorz S.
    Smoley, Stephanie
    Schwager, Susan
    Zent, Clive S.
    Call, Timothy G.
    Shanafelt, Tait D.
    Hanson, Curtis A.
    Tschumper, Renee C.
    Jelinek, Diane. F.
    Van Dyke, Daneil L.
    Kay, Neil E.
    BLOOD, 2007, 110 (11) : 616A - 616A
  • [45] The effect of hypocalcemia in early childhood on autism-related social and communication skills in patients with 22q11 deletion syndrome
    Muldoon, Meghan
    Ousley, Opal Y.
    Kobrynski, Lisa J.
    Patel, Sheena
    Oster, Matthew E.
    Fernandez-Carriba, Samuel
    Cubells, Joseph F.
    Coleman, Karlene
    Pearce, Bradley D.
    EUROPEAN ARCHIVES OF PSYCHIATRY AND CLINICAL NEUROSCIENCE, 2015, 265 (06) : 519 - 524
  • [46] The effect of hypocalcemia in early childhood on autism-related social and communication skills in patients with 22q11 deletion syndrome
    Meghan Muldoon
    Opal Y. Ousley
    Lisa J. Kobrynski
    Sheena Patel
    Matthew E. Oster
    Samuel Fernandez-Carriba
    Joseph F. Cubells
    Karlene Coleman
    Bradley D. Pearce
    European Archives of Psychiatry and Clinical Neuroscience, 2015, 265 : 519 - 524
  • [47] Late appearance of the 11q22.3-23.1 deletion involving the ATM locus in B-cell chronic lymphocytic leukemia and related disorders. Clinico-biological significance
    Cuneo, A
    Bigoni, R
    Rigolin, GM
    Grazia, M
    Roberti, MG
    Bardi, A
    Cavazzini, F
    Milani, R
    Minotto, C
    Tieghi, A
    Della Porta, M
    Agostini, P
    Tammiso, E
    Negrini, M
    Castoldi, G
    HAEMATOLOGICA, 2002, 87 (01) : 44 - 51
  • [48] dup(12)(q13-q22) and 13q14 deletion in a case of B-cell chronic lymphocytic leukemia
    Chena, C
    Sarmiento, M
    Palacios, MF
    Scolnik, M
    Slavutsky, I
    ACTA HAEMATOLOGICA, 2000, 104 (04) : 197 - 201
  • [49] LONG-RANGE RESTRICTION MAP OF HUMAN-CHROMOSOME 22Q11-22Q12 BETWEEN THE LAMBDA-IMMUNOGLOBULIN LOCUS AND THE EWING SARCOMA BREAKPOINT
    MCDERMID, HE
    BUDARF, ML
    EMANUEL, BS
    GENOMICS, 1993, 18 (02) : 308 - 318
  • [50] DIGEORGE SYNDROME WITH ISOLATED AORTIC COARCTATION AND ISOLATED VENTRICULAR SEPTAL-DEFECT IN 3 SIBS WITH A 22Q11 DELETION OF MATERNAL ORIGIN
    WILSON, DI
    CROSS, IE
    GOODSHIP, JA
    COULTHARD, S
    CAREY, AH
    SCAMBLER, PJ
    BAIN, HH
    HUNTER, AS
    CARTER, PE
    BURN, J
    BRITISH HEART JOURNAL, 1991, 66 (04): : 308 - 312
12345