Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

t(3;9)(q27;p13) GRHPR/BCL6

Written2012-11Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
Atlas_Id 2132

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).

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

Gene Name BCL6
Location 3q27.3
Protein 706 amino acids; composed of a NH2-term BTB/POZ domain (amino acids 1-130 (32-99 according to Swiss-Prot) which mediates homodimerization and protein-protein 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 C-term (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 (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.
Gene Name 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).

Result of the chromosomal anomaly

Hybrid gene
Description Breakpoint in BCL6 first intron.
  

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.

Bibliography

BCL6 gene translocation in follicular lymphoma: a harbinger of eventual transformation to diffuse aggressive lymphoma.
Akasaka T, Lossos IS, Levy R.
Blood. 2003 Aug 15;102(4):1443-8. Epub 2003 May 8.
PMID 12738680
 
Ambivalent role of BCL6 in cell survival and transformation.
Albagli-Curiel O.
Oncogene. 2003 Jan 30;22(4):507-16.
PMID 12555064
 
Several lymphoma-specific genetic events in parallel can be found in mature B-cell neoplasms.
Bacher U, Haferlach T, Alpermann T, Kern W, Schnittger S, Haferlach C.
Genes Chromosomes Cancer. 2011 Jan;50(1):43-50. doi: 10.1002/gcc.20831.
PMID 20960563
 
SNP analysis of minimally evolved t(14;18)(q32;q21)-positive follicular lymphomas reveals a common copy-neutral loss of heterozygosity pattern.
Cheung KJ, Rogic S, Ben-Neriah S, Boyle M, Connors JM, Gascoyne RD, Horsman DE.
Cytogenet Genome Res. 2012;136(1):38-43. doi: 10.1159/000334265. Epub 2011 Nov 18.
PMID 22104078
 
The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II.
Cramer SD, Ferree PM, Lin K, Milliner DS, Holmes RP.
Hum Mol Genet. 1999 Oct;8(11):2063-9.
PMID 10484776
 
Heterogeneity of BCL6 rearrangements in nodular lymphocyte predominant Hodgkin's lymphoma.
Wlodarska I, Stul M, De Wolf-Peeters C, Hagemeijer A.
Haematologica. 2004 Aug;89(8):965-72.
PMID 15339680
 

Citation

This paper should be referenced as such :
Huret, JL
t(3;9)(q27;p13) GRHPR/BCL6
Atlas Genet Cytogenet Oncol Haematol. 2013;17(3):204-205.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0309q27p13ID2132.html


Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes BCL6

Translocations implicated (Data extracted from papers in the Atlas)

 t(3;9)(q27;p13) GRHPR/BCL6

External links

arrayMap (UZH-SIB Zurich)GRHPR (9p13.2) BCL6 (3q27.3)

GRHPR (9p13.2) BCL6 (3q27.3)

Mitelman databaset(3;9)(q27;p13) [Case List]    t(3;9)(q27;p13) [Association List] Mitelman database (CGAP - NCBI)
arrayMap[select an item]
 
Mitelman databaseGRHPR/BCL6 [MCList]  GRHPR (9p13.2) BCL6 (3q27.3)
Mitelman databaseGRHPR/BCL6 [MCList]  GRHPR (9p13.2) BCL6 (3q27.3)
 
Disease databaset(3;9)(q27;p13) GRHPR/BCL6
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jan 18 15:21:28 CET 2017


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.