20 research outputs found
Alternative Translocation Breakpoint Cluster Region 5' to BCL-6 in B-cell Non-Hodgkin’s Lymphoma
Chromosomal translocations involving band 3q27 with various different partner chromosomes represent a recurrent cytogenetic abnormality
in B-cell non-Hodgkin’s lymphoma. In a fraction of these translocations,
the chromosomal breakpoint is located within the 5' noncoding region of
the BCL-6 proto-oncogene where the BCL-6 major breakpoint region
(MBR) maps. As a result of the translocation, BCL-6 expression is deregulated by promoter substitution. However, between 30 and 50% of lymphomas with cytogenetically detectable translocations affecting band 3q27
retain a germ-line configuration at the BCL-6 locus. To identify possible
additional breakpoint clusters within 3q27, we cloned a t(3;14)(q27;q32)
lymphoma without MBR rearrangement and found a novel breakpoint
site located between 245 and 285 kb 5' to BCL-6. Breakpoints within this
newly described region, which we called the alternative breakpoint region
(ABR), were found to be recurrent in lymphomas carrying t(3q27) chromosomal translocations but devoid of BCL-6 MBR rearrangements. Comparative analysis of multiple lymphomas carrying rearrangements within
the ABR showed that the breakpoints cluster within a 20-kb distance.
Translocations involving the ABR may juxtapose BCL-6 to distantly
acting, heterologous transcriptional regulatory elements which cause deregulation of the proto-oncogene. The identification of BCL-6 ABR provides new tools for the diagnosis of lymphomas carrying aberrations at
3q27 and deregulated BCL-6 genes
Alternative Translocation Breakpoint Cluster Region 5' to BCL-6 in B-cell Non-Hodgkin’s Lymphoma
Chromosomal translocations involving band 3q27 with various different partner chromosomes represent a recurrent cytogenetic abnormality
in B-cell non-Hodgkin’s lymphoma. In a fraction of these translocations,
the chromosomal breakpoint is located within the 5' noncoding region of
the BCL-6 proto-oncogene where the BCL-6 major breakpoint region
(MBR) maps. As a result of the translocation, BCL-6 expression is deregulated by promoter substitution. However, between 30 and 50% of lymphomas with cytogenetically detectable translocations affecting band 3q27
retain a germ-line configuration at the BCL-6 locus. To identify possible
additional breakpoint clusters within 3q27, we cloned a t(3;14)(q27;q32)
lymphoma without MBR rearrangement and found a novel breakpoint
site located between 245 and 285 kb 5' to BCL-6. Breakpoints within this
newly described region, which we called the alternative breakpoint region
(ABR), were found to be recurrent in lymphomas carrying t(3q27) chromosomal translocations but devoid of BCL-6 MBR rearrangements. Comparative analysis of multiple lymphomas carrying rearrangements within
the ABR showed that the breakpoints cluster within a 20-kb distance.
Translocations involving the ABR may juxtapose BCL-6 to distantly
acting, heterologous transcriptional regulatory elements which cause deregulation of the proto-oncogene. The identification of BCL-6 ABR provides new tools for the diagnosis of lymphomas carrying aberrations at
3q27 and deregulated BCL-6 genes
Alternative Translocation Breakpoint Cluster Region 5' to BCL-6 in B-cell Non-Hodgkin’s Lymphoma
Chromosomal translocations involving band 3q27 with various different partner chromosomes represent a recurrent cytogenetic abnormality
in B-cell non-Hodgkin’s lymphoma. In a fraction of these translocations,
the chromosomal breakpoint is located within the 5' noncoding region of
the BCL-6 proto-oncogene where the BCL-6 major breakpoint region
(MBR) maps. As a result of the translocation, BCL-6 expression is deregulated by promoter substitution. However, between 30 and 50% of lymphomas with cytogenetically detectable translocations affecting band 3q27
retain a germ-line configuration at the BCL-6 locus. To identify possible
additional breakpoint clusters within 3q27, we cloned a t(3;14)(q27;q32)
lymphoma without MBR rearrangement and found a novel breakpoint
site located between 245 and 285 kb 5' to BCL-6. Breakpoints within this
newly described region, which we called the alternative breakpoint region
(ABR), were found to be recurrent in lymphomas carrying t(3q27) chromosomal translocations but devoid of BCL-6 MBR rearrangements. Comparative analysis of multiple lymphomas carrying rearrangements within
the ABR showed that the breakpoints cluster within a 20-kb distance.
Translocations involving the ABR may juxtapose BCL-6 to distantly
acting, heterologous transcriptional regulatory elements which cause deregulation of the proto-oncogene. The identification of BCL-6 ABR provides new tools for the diagnosis of lymphomas carrying aberrations at
3q27 and deregulated BCL-6 genes
Alternative Translocation Breakpoint Cluster Region 5' to BCL-6 in B-cell Non-Hodgkin’s Lymphoma
Chromosomal translocations involving band 3q27 with various different partner chromosomes represent a recurrent cytogenetic abnormality
in B-cell non-Hodgkin’s lymphoma. In a fraction of these translocations,
the chromosomal breakpoint is located within the 5' noncoding region of
the BCL-6 proto-oncogene where the BCL-6 major breakpoint region
(MBR) maps. As a result of the translocation, BCL-6 expression is deregulated by promoter substitution. However, between 30 and 50% of lymphomas with cytogenetically detectable translocations affecting band 3q27
retain a germ-line configuration at the BCL-6 locus. To identify possible
additional breakpoint clusters within 3q27, we cloned a t(3;14)(q27;q32)
lymphoma without MBR rearrangement and found a novel breakpoint
site located between 245 and 285 kb 5' to BCL-6. Breakpoints within this
newly described region, which we called the alternative breakpoint region
(ABR), were found to be recurrent in lymphomas carrying t(3q27) chromosomal translocations but devoid of BCL-6 MBR rearrangements. Comparative analysis of multiple lymphomas carrying rearrangements within
the ABR showed that the breakpoints cluster within a 20-kb distance.
Translocations involving the ABR may juxtapose BCL-6 to distantly
acting, heterologous transcriptional regulatory elements which cause deregulation of the proto-oncogene. The identification of BCL-6 ABR provides new tools for the diagnosis of lymphomas carrying aberrations at
3q27 and deregulated BCL-6 genes
Immunogenetics features and genomic lesions in splenic marginal zone lymphoma
Splenic marginal zone lymphomas (MZL) express mutated (M)) or unmutated (U)) immunoglobulin heavy chain (IGHV) genes. To investigate the IGHV mutational status impact on genetic lesions, this study combined single nucleotide polymorphism-arrays and IGHV sequencing in 83 cases. Clinical features and outcome were similar between U- and M-IGHV cases. Recurrent lesions frequency was higher in U-IGHV cases, including poor prognosticators. Frequencies differed among cases bearing individual IGHV genes or lambda light chains. In conclusion, SMZL comprises subgroups based on genetic abnormalities and immunogenetic status. Genomic lesion frequency differed and was higher in U-IGHV cases, possibly affecting the outcome