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(1;3)(q25;q27) GAS5/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 1625

Clinics and Pathology

Disease Non Hodgkin lymphoma
Epidemiology Two cases to date: two male patients (one was aged 49-years) with diffuse large B-cell lymphoma (Chenevix-Trench et al., 1988; Nakamura et al., 2008).
Prognosis The patient reported in Nakamura et al., 2008 was treated with chemotherapy, but died of progressive disease 7 months after the diagnosis.

Cytogenetics

Additional anomalies Non specific additional anomalies were present in both cases.

Genes involved and Proteins

Note The genes involved in the translocation were, indeed, described in the most recent report.
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 GAS5
Location 1q25.1
Protein GAS5 exons do not encode a polypeptide product (small nucleolar RNA (snoRNA) sequence) of the 5'TOP gene family; role in the regulation of cell growth; provokes growth arrest; overexpression of GAS5 transcripts is reported to induce apoptosis.

Result of the chromosomal anomaly

Hybrid gene
Description The 5'-terminal oligopyrimidine sequence of GAS5 was fused to the whole coding sequence of BCL6: GAS5 exon 3 was fused to BCL6 exon 2 (BCL6 exon 1 is noncoding).
  

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

Ambivalent role of BCL6 in cell survival and transformation.
Albagli-Curiel O.
Oncogene. 2003 Jan 30;22(4):507-16.
PMID 12555064
 
Chromosome analysis of 30 cases of non-Hodgkin's lymphoma.
Chenevix-Trench G, Brown JA, Tyler GB, Behm FG.
Med Oncol Tumor Pharmacother. 1988;5(1):17-32.
PMID 3259279
 
The GAS5 (growth arrest-specific transcript 5) gene fuses to BCL6 as a result of t(1;3)(q25;q27) in a patient with B-cell lymphoma.
Nakamura Y, Takahashi N, Kakegawa E, Yoshida K, Ito Y, Kayano H, Niitsu N, Jinnai I, Bessho M.
Cancer Genet Cytogenet. 2008 Apr 15;182(2):144-9. doi: 10.1016/j.cancergencyto.2008.01.013.
PMID 18406879
 

Citation

This paper should be referenced as such :
Huret, JL
t(1;3)(q25;q27) GAS5/BCL6
Atlas Genet Cytogenet Oncol Haematol. 2013;17(3):201-202.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0103q25q27ID1625.html


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

Genes BCL6

Translocations implicated (Data extracted from papers in the Atlas)

 t(1;3)(q25;q27) GAS5/BCL6

External links

arrayMap (UZH-SIB Zurich)GAS5 (1q25.1) BCL6 (3q27.3)

GAS5 (1q25.1) BCL6 (3q27.3)

Mitelman databaset(1;3)(q25;q27) [Case List]    t(1;3)(q25;q27) [Association List] Mitelman database (CGAP - NCBI)
arrayMap[select an item]
 
Mitelman databaseGAS5/BCL6 [MCList]  GAS5 (1q25.1) BCL6 (3q27.3)
Mitelman databaseGAS5/BCL6 [MCList]  GAS5 (1q25.1) BCL6 (3q27.3)
 
Disease databaset(1;3)(q25;q27) GAS5/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 : Tue Mar 14 13:54:13 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.