Download Leukaemia Section t(3;6)(q27;p22) HIST1H4I/BCL6 Atlas of Genetics and Cytogenetics in Oncology and Haematology

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
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Short Communication
t(3;6)(q27;p22) HIST1H4I/BCL6
Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
(JLH)
Published in Atlas Database: December 2012
Online updated version : http://AtlasGeneticsOncology.org/Anomalies/t0306q27p22ID2009.html
DOI: 10.4267/2042/48872
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2013 Atlas of Genetics and Cytogenetics in Oncology and Haematology
658-681), responsible for sequence specific DNA
binding.
Transcription repressor; recognizes the consensus
sequence: TTCCT(A/C)GAA (Albagli-Curiel, 2003).
Role in germinal centers of lymphoid follicles. BCL6
prevents ATM and TP53 to induce apoptosis in
response to DNA rearrangements such as somatic
hypermutation and class switch recombination.
Therefore essential for normal B cell development.
Clinics and pathology
Disease
Non Hodgkin lymphoma
Clinics
Apparently 6 cases have been described: a case of
follicular mixed small cleaved and large cell
lymphoma, a case of follicular large cell lymphoma,
and 3 cases of diffuse large B-cell lymphoma (Akasaka
et al., 1997; Akasaka et al., 2000; Kurata et al., 2002;
Ohno, 2006); and a case of primary central nervous
system lymphoma (PCNSL, a diffuse large B cell
lymphoma confined to the brain) (Schwindt et al.,
2006).
HIST1H4I
Location
6p22.1
Protein
Component of the nucleosome. Histones play a major
role in DNA repair, replication and transcription.
Cytogenetics
Result of the chromosomal
anomaly
Cytogenetics morphological
Only two of the five cases reported by the Kyoto group
showed a t(3;6)(q27;p21-22).
Hybrid gene
Description
Breakpoints in HIST1H4 are located within the single
exon to 3' of the terminal palindrome; the breakpoint in
BCL6 was located within the major translocation
cluster.
Genes involved and proteins
BCL6
Location
3q27.3
Protein
706 amino acids; composed of a NH2-term BTB/POZ
domain (amino acids 1-130 (32-99 according to SwissProt) which mediates homodimerization and proteinprotein interactions with other corepressors (including
HDAC1 and NCOR2/SMRT to constitute a large
repressing complex, another transcription repression
domain (191-386), PEST sequences (300-417) with a
KKYK motif (375-379), and six zinc finger at the Cterm (518-541, 546-568, 574-596, 602-624, 630-652,
Atlas Genet Cytogenet Oncol Haematol. 2013; 17(4)
References
Akasaka T, Miura I, Takahashi N, Akasaka H, Yonetani N,
Ohno H, Fukuhara S, Okuma M. A recurring translocation,
t(3;6)(q27;p21), in non-Hodgkin's lymphoma results in
replacement of the 5' regulatory region of BCL6 with a novel
H4 histone gene. Cancer Res. 1997 Jan 1;57(1):7-12
Akasaka H, Akasaka T, Kurata M, Ueda C, Shimizu A,
Uchiyama T, Ohno H. Molecular anatomy of BCL6
translocations revealed by long-distance polymerase chain
reaction-based assays. Cancer Res. 2000 May 1;60(9):2335-41
277
t(3;6)(q27;p22) HIST1H4I/BCL6
Huret JL
Kurata M, Maesako Y, Ueda C, Nishikori M, Akasaka T,
Uchiyama T, Ohno H. Characterization of t(3;6)(q27;p21)
breakpoints in B-cell non-Hodgkin's lymphoma and
construction of the histone H4/BCL6 fusion gene, leading to
altered expression of Bcl-6. Cancer Res. 2002 Nov
1;62(21):6224-30
Schwindt H, Akasaka T, Zühlke-Jenisch R, Hans V, Schaller C,
Klapper W, Dyer MJ, Siebert R, Deckert M. Chromosomal
translocations fusing the BCL6 gene to different partner loci
are recurrent in primary central nervous system lymphoma and
may be associated with aberrant somatic hypermutation or
defective class switch recombination. J Neuropathol Exp
Neurol. 2006 Aug;65(8):776-82
Albagli-Curiel O. Ambivalent role of BCL6 in cell survival and
transformation. Oncogene. 2003 Jan 30;22(4):507-16
This article should be referenced as such:
Ohno H. Pathogenetic and clinical implications of nonimmunoglobulin ; BCL6 translocations in B-cell non-Hodgkin's
lymphoma. J Clin Exp Hematop. 2006 Nov;46(2):43-53
Atlas Genet Cytogenet Oncol Haematol. 2013; 17(4)
Huret JL. t(3;6)(q27;p22) HIST1H4I/BCL6. Atlas
Cytogenet Oncol Haematol. 2013; 17(4):277-278.
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