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PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2011-2-14
pubmed:abstractText
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 C? was fused to the 5'-untranslated region of BACH2 exon 2. The C?-BACH2 fusion transcript consisted of exon 1 of C? 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 C?-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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1098-2264
pubmed:author
pubmed:copyrightInfo
Copyright © 2011 Wiley-Liss, Inc.
pubmed:issnType
Electronic
pubmed:volume
50
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
207-16
pubmed:meshHeading
pubmed-meshheading:21319257-Aged, pubmed-meshheading:21319257-B-Lymphocytes, pubmed-meshheading:21319257-Base Sequence, pubmed-meshheading:21319257-Basic-Leucine Zipper Transcription Factors, pubmed-meshheading:21319257-Chromosome Breakpoints, pubmed-meshheading:21319257-Chromosomes, Human, Pair 14, pubmed-meshheading:21319257-Chromosomes, Human, Pair 6, pubmed-meshheading:21319257-DNA, Neoplasm, pubmed-meshheading:21319257-Gene Expression Regulation, Leukemic, pubmed-meshheading:21319257-Gene Fusion, pubmed-meshheading:21319257-Genes, myc, pubmed-meshheading:21319257-Humans, pubmed-meshheading:21319257-Immunoglobulin delta-Chains, pubmed-meshheading:21319257-In Situ Hybridization, Fluorescence, pubmed-meshheading:21319257-Leukemia, pubmed-meshheading:21319257-Lymphoma, B-Cell, pubmed-meshheading:21319257-Male, pubmed-meshheading:21319257-Molecular Sequence Data, pubmed-meshheading:21319257-Sequence Analysis, DNA, pubmed-meshheading:21319257-Translocation, Genetic
pubmed:year
2011
pubmed:articleTitle
Identification of IGHC?-BACH2 fusion transcripts resulting from cryptic chromosomal rearrangements of 14q32 with 6q15 in aggressive B-cell lymphoma/leukemia.
pubmed:affiliation
Department of Molecular Hematology and Oncology, Kyoto Prefectural University of Medicine Graduate School of Medical Science, Kyoto, Japan.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't