Download Leukaemia Section t(3;9)(q27;p13) GRHPR/BCL6 Atlas of Genetics and Cytogenetics

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
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Leukaemia Section
Short Communication
t(3;9)(q27;p13) GRHPR/BCL6
Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
(JLH)
Published in Atlas Database: November 2012
Online updated version : http://AtlasGeneticsOncology.org/Anomalies/t0309q27p13ID2132.html
DOI: 10.4267/2042/48764
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
Prot) 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,
658-681), responsible for sequence specific DNA
binding. Transcription repressor; recognizes the
consensus sequence: TTCCT(A/C)GAA (AlbagliCuriel, 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
The t(3;9)(q27;p13) was found in a case of follicular
lymphoma transformed to diffuse aggressive
lymphoma, from a study with no individual data
(Akasaka et al., 2003), in a 71-year-old female patient
with a diagnosis of diffuse large B-cell lymphoma
(DLBCL) of stomach, which evolved to a nodular
lymphocyte-predominant Hodgkin's lymphoma 3 years
later, and to a nodal DLBCL nine years after the initial
diagnosis (Wlodarska et al., 2004), in a 47-year-old
male patient with Burkitt lymphoma, who died of
progressive disease 2 months after diagnosis (Bacher et
al., 2011), and in a female patient with a follicular
lymphoma (Cheung et al., 2012).
GRHPR
Location
9p13.2
Note
GRHPR was found involved in the translocation
reported in the Akasaka's case, and Wlodarska et al.,
2004 also point to its possible involvement.
Protein
GRHPR is an enzyme which catalyzes the reduction of
hydroxy-pyruvate to D-glycerate, glyoxylate to
glycolate and the oxidation of D-glycerate to
hydroxypyruvate. Primary hyperoxaluria type 2 is an
autosomal recessive disease caused by mutations in
GRHPR (Cramer et al., 1999).
Cytogenetics
Cytogenetics morphological
The Burkitt lymphoma case showed the characteristic
t(8;14)(q24;q32) and a complex karyotype, the
follicular
lymphoma
case
showed
the
t(14;18)(q32;q21). In the DLBCL case, no specific
translocation accompanied the t(3;9).
Genes involved and proteins
BCL6
Result of the chromosomal
anomaly
Location
3q27.3
Protein
706 amino acids; composed of a NH2-term BTB/POZ
domain (amino acids 1-130 (32-99 according to Swiss-
Atlas Genet Cytogenet Oncol Haematol. 2013; 17(3)
Hybrid gene
Description
Breakpoint in BCL6 first intron.
204
t(3;9)(q27;p13) GRHPR/BCL6
Huret JL
References
predominant Hodgkin's
Aug;89(8):965-72
Cramer SD, Ferree PM, Lin K, Milliner DS, Holmes RP. The
gene encoding hydroxypyruvate reductase (GRHPR) is
mutated in patients with primary hyperoxaluria type II. Hum Mol
Genet. 1999 Oct;8(11):2063-9
Bacher U, Haferlach T, Alpermann T, Kern W, Schnittger S,
Haferlach C. Several lymphoma-specific genetic events in
parallel can be found in mature B-cell neoplasms. Genes
Chromosomes Cancer. 2011 Jan;50(1):43-50
Akasaka T, Lossos IS, Levy R. BCL6 gene translocation in
follicular lymphoma: a harbinger of eventual transformation to
diffuse
aggressive
lymphoma.
Blood.
2003
Aug
15;102(4):1443-8
Cheung KJ, Rogic S, Ben-Neriah S, Boyle M, Connors JM,
Gascoyne RD, Horsman DE. SNP analysis of minimally
evolved t(14;18)(q32;q21)-positive follicular lymphomas
reveals a common copy-neutral loss of heterozygosity pattern.
Cytogenet Genome Res. 2012;136(1):38-43
Albagli-Curiel O. Ambivalent role of BCL6 in cell survival and
transformation. Oncogene. 2003 Jan 30;22(4):507-16
Haematologica.
2004
This article should be referenced as such:
Wlodarska I, Stul M, De Wolf-Peeters C, Hagemeijer A.
Heterogeneity of BCL6 rearrangements in nodular lymphocyte
Atlas Genet Cytogenet Oncol Haematol. 2013; 17(3)
lymphoma.
Huret JL. t(3;9)(q27;p13) GRHPR/BCL6. Atlas
Cytogenet Oncol Haematol. 2013; 17(3):204-205.
205
Genet