| RRC ID |
38474
|
| 著者 |
Kobayashi S, Taki T, Chinen Y, Tsutsumi Y, Ohshiro M, Kobayashi T, Matsumoto Y, Kuroda J, Horiike S, Nishida K, Taniwaki M.
|
| タイトル |
Identification of IGHCδ-BACH2 fusion transcripts resulting from cryptic chromosomal rearrangements of 14q32 with 6q15 in aggressive B-cell lymphoma/leukemia.
|
| ジャーナル |
Genes Chromosomes Cancer
|
| Abstract |
In B-cell malignancies, genes implicated in B-cell differentiation, germinal center formation, apoptosis, and cell cycle regulation are juxtaposed to immunoglobulin loci through chromosomal translocations. In this study, we identified the BTB and CNC homology 2 (BACH2) gene as a novel translocation partner of the immunoglobulin heavy chain (IGH) locus in a patient with IGH-MYC-positive, highly aggressive B-cell lymphoma/leukemia carrying der(14)t(8;14) and del(6)(q15). Fluorescence in situ hybridization analysis using an IGH/MYC probe detected an IGH-MYC fusion signal on der(14) and IGH signal on del(6). Genome copy number analysis showed a deletion in the 6q15-25 region and a centromeric breakpoint within the BACH2 gene. cDNA bubble polymerase chain reaction using BACH2 primers revealed that the first exon of Cδ was fused to the 5'-untranslated region of BACH2 exon 2. The Cδ-BACH2 fusion transcript consisted of exon 1 of Cδ and exons 2 to 9 of BACH2, encompassing the entire BACH2 coding region, and the BACH2 was highly expressed in this patient. These results indicate that Cδ-BACH2 fusion may cause constitutive activation of BACH2. Although additional screening of 47 samples of B-cell non-Hodgkin's lymphoma (B-NHL) patients and 29 cell lines derived from B-cell malignancies by double-color fluorescence in situ hybridization analysis detected a split signal with deletion of centromeric region of BACH2 only in a patient with follicular lymphoma, BACH2 was highly expressed in lymphoma cells of the patient and B-NHL cell lines with IGH-MYC translocation. These findings suggest that BACH2 plays a critical role in B-cell lymphomagenesis, especially related to IGH-MYC translocation in some way.
|
| 巻・号 |
50(4)
|
| ページ |
207-16
|
| 公開日 |
2011-4-1
|
| DOI |
10.1002/gcc.20845
|
| PMID |
21319257
|
| MeSH |
Aged
B-Lymphocytes / metabolism
Base Sequence
Basic-Leucine Zipper Transcription Factors / genetics*
Chromosome Breakpoints
Chromosomes, Human, Pair 14 / genetics*
Chromosomes, Human, Pair 6 / genetics*
DNA, Neoplasm / genetics
Gene Expression Regulation, Leukemic
Gene Fusion
Genes, myc
Humans
Immunoglobulin delta-Chains / genetics*
In Situ Hybridization, Fluorescence
Leukemia / genetics
Lymphoma, B-Cell / genetics*
Lymphoma, B-Cell / pathology
Male
Molecular Sequence Data
Sequence Analysis, DNA
Translocation, Genetic*
|
| IF |
3.444
|
| 引用数 |
28
|
|
WOS 分野
|
GENETICS & HEREDITY
ONCOLOGY
|
| リソース情報 |
| ヒト・動物細胞 |
|
