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t(14;18)(q32;q21) IGH/MALT1

Written2008-03Berthold Streubel
Medical University of Vienna, Dept. of Pathology, WaehringerGuertel 18-20, A-1090 Vienna, Austria

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Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
Atlas_Id 1350
 
  t(14;18)(q32;q21) with additional cytogenetic abnormalities in a hepatic MALT lymphoma. FISH demonstrated an IGH-MALT1 rearrangement.

Clinics and Pathology

Disease t(14;18)/IGH-MALT1 was detected in MALT lymphoma first. The frequencies at which the translocation occurs vary markedly with the primary site of the disease. IGH-MALT1 rearrangements were described also in other B-NHLs such as DLBCL (Diffuse Large B-Cell Lymphoma).

Cytogenetics

Cytogenetics Morphological The t(14;18)/IGH-MALT1 is cytogenetically indistinguishable from the t(14;18)/IGH-BCL2. FISH with gene specific probes is suitable to distinguish between these two different rearrangements.

Genes involved and Proteins

Gene Name IGH
Location 14q32.33
Gene Name MALT1
Location 18q21
Protein Stimulation of either the T cell antigen receptor (TCR) or B cell antigen receptor leads to stimulation of protein kinase C isoforms that phosphorylate the scaffolding protein CARMA1, which subsequently recruits both Bcl-10 and MALT1 to form what is now referred to as the CARMA1-Bcl-10-MALT1 (CBM) 'signalosome'. Once the CBM signalosome is assembled, MALT1 functions as the 'effector' protein and mediates activation of the IKK complex, a multi subunit kinase that phosphorylates the Ikappa B proteins, which bind to and sequester the transcription factor NF-kappaB in the cytoplasm. Phosphorylation and subsequent degradation of Ikappa B leads to the release of NF-kappaB, which then translocates to the nucleus and regulates the transcription of 'target' genes involved in the immune response to foreign antigens.

Result of the chromosomal anomaly

Hybrid gene
Note Breakpoints upstream the coding exons of MALT1 resulting in an in-frame deregulation of MALT1.
  

Bibliography

Molecular pathogenesis of mucosa-associated lymphoid tissue lymphoma.
Farinha P, Gascoyne RD.
J ClinOncol 2005; 23: 6370-6378. (REVIEW)
PMID 16155022
 
MALT lymphoma: from morphology to molecules.
Isaacson PG, Du MQ.
Nat RevCancer 2004; 4: 644-653. (REVIEW)
PMID 15286744
 
MALT1 is deregulated by both chromosomal translocation and amplification in B-cell non-Hodgkin lymphoma.
Sanchez-Izquierdo D,Buchonnet G, Siebert R, Gascoyne RD, Climent J, Karran L, Marin M, Blesa D, Horsman D, Rosenwald A, et al.
Blood 2003; 101(11): 4539-4546.
PMID 12560219
 
Antigen-receptor signaling to nuclear factor kappa B.
Schulze-Luehrmann J, Ghosh S.
Immunity 2006; 25: 701-715. (REVIEW)
PMID 17098202
 
Variable frequencies of MALT lymphoma-associated genetic aberrations in MALT lymphomas of different sites.
Streubel B, Simonitsch-Klupp I, Müllauer L, Lamprecht A, Huber D, Siebert R, Stolte M, Trautinger F, Lukas J, Puspok A, Formanek M, Assanasen T, Muller-Hermelink HK, Cerroni L, Raderer M, Chott A.
Leukemia 2004; 18: 1722-1726.
PMID 15356642
 
Identification of paracaspases and metacaspases: two ancient families of caspase-like proteins, one of which plays a key role in MALT lymphoma.
Uren AG, O'Rourke K, Aravind LA, Pisabarro MT, Seshagiri S, Koonin EV, Dixit VM.
Mol Cell 2000; 6: 961-967.
PMID 11090634
 

Citation

This paper should be referenced as such :
Streubel, B
t(14;18)(q32;q21)(IgH/MALT1)
Atlas Genet Cytogenet Oncol Haematol. 2009;13(3):232-233.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t1418q32q21ID1350.html


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

Genes

Translocations implicated (Data extracted from papers in the Atlas)

 t(14;18)(q32;q21) IGH/MALT1

External links

arrayMap (UZH-SIB Zurich)
Mitelman databaset(14;18)(q32;q21) [Case List]    t(14;18)(q32;q21) [Association List] Mitelman database (CGAP - NCBI)
arrayMap[select an item]
 
 
Disease databaset(14;18)(q32;q21) IGH/MALT1
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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