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BCL10 (B-cell CLL/lymphoma 10)

Written2009-01Pei Lin
Department of Hematopathology, University of Texas-MD Anderson Cancer Center Houston, Texas, 77030 USA

(Note : for Links provided by Atlas : click)

Identity

Other aliasBcl-10
CARMEN
CIPER
CLAP
Cellular-E10
OTTHUMP00000011647
OTTHUMP00000036080
c-E10
cCARMEN
hCLAP
mE10
LocusID (NCBI) 8915
Atlas_Id 222
Location 1p22.3  [Link to chromosome band 1p22]
Location_base_pair Starts at and ends at bp from pter
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BCL10 (1p22.3) / CLTA (9p13.3)BCL10 (1p22.3) / EDRF1 (10q26.13)JCHAIN (4q13.3) / BCL10 (1p22.3)
STPG1 (1p36.11) / BCL10 (1p22.3)

DNA/RNA

Description 12,308 bases, 4 exons, Transcription: 4.2 kb.
Transcription Transcription produces 4 alternatively spliced variants and 1 unspliced form with 2,974 bps or 2,819 bps.

Protein

Description 233 amino acids with a molecular weight of 26252 Da.
Expression BCL10 is expressed in all normal and malignant tissues. In the lymphoid tissue, it is highly expressed in the germinal center but low in the mantle zone, and intermediate in the marginal zone. BCL10 is likely to play a role in the normal development of the germinal center.
Localisation BCL10 resides in the cytoplasm or perinuclear region of normal cells.
Function BCL10 functions normally as a proapoptotic protein through caspase recruitment domain (CARD) at the animo terminal and activation of NF-kappaB pathway. This activity requires oligomerization via the CARD domain and interaction between BCL10 and other CARD domain containing proteins including CARD9, CARD10, CARD11 and CARD14.
Homology Equine herpesvirus-2 E10 gene.

Implicated in

Note
  
Entity 1p rearrangement/Non-Hodgkin lymphoma
Disease Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma).
  • Phenotype stem cell origin: Marginal zone B-cells.
  • Epidemiology: Commonly seen in MALT lymphoma involving stomach (approximately 4%) and lung (approximately 9%). Uncommon in MALT lymphoma involving other sites.
  • Evolution: MALT lymphoma may evolve to diffuse large B-cell lymphoma.
  • Prognosis Generally indolent.
    Cytogenetics In t(1;14)(p22;q32). The gene on 14q32 is IgH. The breakpoint on 1p22 involves a recurrent breakpoint upstream of the promoter of BCL10.
    Hybrid/Mutated Gene BCL10-IgH.
    The translocation t(1;14)(p22;q32) is associated with frameshift mutation of BCL10 and truncation of BCL10 protein distal to CARD. The mutant type of BCL10 enhances cell survival and proliferation through activation of NF-kappaB pathway. MALT lymphomas without BCL10 rearrangement may also carry BCL10 mutation however.
     
    MALT lymphoma expressing BCL10 (courtesy of Dr. Du M-Q).
    Abnormal Protein MALT lymphomas with t(1;14)(p22;q32) demonstrate strong nuclear BCL10 staining regardless of BCL10 mutation status. MALT lymphoma without t(1;14)(p22;q32) may also show strong nuclear staining.So a strong nuclear BCL10 staining is not always a presumptive evidence of t(1;14)(p22;q32). This pattern is different from the weak cytoplasmic expression observed in normal germinal center B-cells.
    Oncogenesis Loss of CARD domain through translocation and mutations lead to loss of proapoptotic activity. In addition, MALT1 and BCL10 may synergize in the activation of NF-kappaB leading to enhanced cell survival and downstream activation of anti-apoptotic/proliferative signals.
      
      
    Entity Various Cancers
    Disease BCL10 mutations have also been described in follicular lymphoma, Sezary syndrome, malignant mesothelioma, germ cell tumor, and colon cancer.
      

    Bibliography

    MALT lymphoma: recent advances in aetiology and molecular genetics.
    Du M-Q.
    J Clin Exp Hematop. 2007 Nov;47(2):31-42.
    PMID 18040143
     
    BCL10 gene mutation in lymphoma.
    Du MQ, Peng H, Liu H, Hamoudi RA, Diss TC, Willis TG, Ye H, Dogan A, Wotherspoon AC, Dyer MJ, Isaacson PG.
    Blood. 2000 Jun 15;95(12):3885-90.
    PMID 10845924
     
    Bcl10 is involved in t(1;14)(p22;q32) of MALT B cell lymphoma and mutated in multiple tumor types.
    Willis TG, Jadayel DM, Du MQ, Peng H, Perry AR, Abdul-Rauf M, Price H, Karran L, Majekodunmi O, Wlodarska I, Pan L, Crook T, Hamoudi R, Isaacson PG, Dyer MJ.
    Cell. 1999 Jan 8;96(1):35-45.
    PMID 9989495
     
    Inactivating mutations and overexpression of BCL10, a caspase recruitment domain-containing gene, in MALT lymphoma with t(1;14)(p22;q32).
    Zhang Q, Siebert R, Yan M, Hinzmann B, Cui X, Xue L, Rakestraw KM, Naeve CW, Beckmann G, Weisenburger DD, Sanger WG, Nowotny H, Vesely M, Callet-Bauchu E, Salles G, Dixit VM, Rosenthal A, Schlegelberger B, Morris SW.
    Nat Genet. 1999 May;22(1):63-8.
    PMID 10319863
     

    Citation

    This paper should be referenced as such :
    Lin, P
    BCL10 (B-cell CLL/lymphoma 10)
    Atlas Genet Cytogenet Oncol Haematol. 2009;13(12):909-910.
    Free journal version : [ pdf ]   [ DOI ]
    On line version : http://AtlasGeneticsOncology.org/Genes/BCL10ID222ch1p22.html


    Other Leukemias implicated (Data extracted from papers in the Atlas) [ 5 ]
      t(1;2)(p22;p12) IGK/BCL10::t(1;14)(p22;q32) IGH/BCL10
    Marginal Zone B-cell lymphoma
    t(3;14)(p14;q32) IGH/FOXP1
    t(1;2)(p22;p12) IGK/BCL10::t(1;14)(p22;q32) IGH/BCL10
    t(14;18)(q32;q21) IGH/MALT1


    Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 5 ]
      Gastric Tumors: an overview
    t(1;2)(p22;p11) IGK/BCL10
    t(1;2)(p22;p11) IGK/BCL10
    t(1;14)(p22;q32) IGH/BCL10
    t(1;14)(p22;q32) IGH/BCL10


    External links

    Nomenclature
    Cards
    AtlasBCL10ID222ch1p22.txt
    Aliases
    Genomic and cartography
    Gene and transcription
    RefSeq transcript (Entrez)
    RefSeq genomic (Entrez)
    SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
    BioGPS (Tissue expression)8915
    Protein : pattern, domain, 3D structure
    Domain families : Pfam (Sanger)
    Domain families : Pfam (NCBI)
    Protein Interaction databases
    Ontologies - Pathways
    Clinical trials, drugs, therapy
    Miscellaneous
    canSAR (ICR) (select the gene name)
    Probes
    Litterature
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed


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    indexed on : Thu Oct 18 17:29:26 CEST 2018

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