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• 作者：Marie Jarosova ; Eva Kriegova ; Petra Schneiderova…
• 关键词：Diffuse large B ; cell lymphoma ; BCL6 rearrangements ; BCL2 rearrangements ; Non ; immunoglobulin gene translocations ; Complex chromosomal changes
• 刊名：Pathology & Oncology Research
• 出版年：2016
• 出版时间：April 2016
• 年：2016
• 卷：22
• 期：2
• 页码：233-243
• 全文大小：1,110 KB
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• 作者单位：Marie Jarosova (1)
  Eva Kriegova (2)
  Petra Schneiderova (2)
  Regina Fillerova (2)
  Vit Prochazka (1)
  Michaela Mikesova (1)
  Patrik Flodr (3)
  Karel Indrak (1)
  Tomas Papajik (1)
  
  1. Department of Hemato-Oncology, Faculty of Medicine and Dentistry, Palacky University Olomouc and the University Hospital Olomouc, Hnevotinska 3, 77900, Olomouc, Czech Republic
  2. Department of Immunology, Faculty of Medicine and Dentistry, Palacky University Olomouc, Hnevotinska 3, 77900, Olomouc, Czech Republic
  3. Department of Clinical and Molecular Pathology, Faculty of Medicine and Dentistry, Palacky University Olomouc and the University Hospital Olomouc, Hnevotinska 3, 77900, Olomouc, Czech Republic
  
• 刊物主题：Cancer Research; Oncology; Pathology; Immunology; Biomedicine general;
• 出版者：Springer Netherlands
• ISSN：1532-2807

文摘

BCL6 rearrangements (3q27) are the most common chromosomal abnormalities in diffuse large B-cell lymphoma (DLBCL), with numerous immunoglobulin (Ig) and non-Ig genes as partners. In DLBCL, the translocations occur predominantly in the “major breakpoint region” encompassing the first noncoding exon and a part of the first intron of BCL6; few cases with “alternative breakpoint cluster” located 245–285 kb 5′ BCL6 were also described. The regulatory sequences of known Ig and non-Ig partners replace the 5′ untranslated region of the BCL6 in the same transcriptional orientation. Contrary to Ig/BCL6 fusions typical by high BCL6 gene expression, in non-Ig/BCL6 translocations were observed unexpectedly low BCL6 mRNA levels. From the clinical point of view, the survival rate of DLBCL patients with non-Ig partners is inferior to those with Ig/BCL6 translocations, suggesting that non-Ig/BCL6 fusion is a poor prognostic indicator. Hereby we provide comprehensive information about known non-Ig translocation partners and clinical consequences of BCL6 rearrangements in DLBCL. Moreover, we describe a novel reciprocal translocation t(3;10) in refractory patient with DLBCL with the breaking points at 5′ untranslated region of BCL6 and 5′ untranslated region of the RASGEF1A gene on chromosome 10q11.21 loci; this rearrangement was associated with low BCL6 and RASGEF1A gene expressions. Our patient harbouring dual chromosomal rearrangement involving BCL2 and BCL6 genes relapsed three-times and died soon; thus, further supporting the notion that non-Ig/BCL6 fusion is a poor prognostic indicator of DLBCL. There is evidence of prognostic value of BCL6 rearrangements also in rituximab era.