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

Identity

	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.

External links

Other database	t(14;18)(q32;q21)(IgH/MALT1)	Mitelman database (CGAP - NCBI)
Other database	t(14;18)(q32;q21)(IgH/MALT1)	CancerChromosomes (NCBI)

Bibliography

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

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

t(14;18)(q32;q21) involving IGH and MALT1 is a frequent chromosomal aberration in MALT lymphoma.

Streubel B, Lamprecht A, Dierlamm J, Cerroni L, Stolte M, Ott G, Raderer M, Chott A.

Blood 2003; 101: 2335-2339.

PMID 12406890

MALT lymphoma: from morphology to molecules.

Isaacson PG, Du MQ.

Nat RevCancer 2004; 4: 644-653. (REVIEW)

PMID 15286744

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

Molecular pathogenesis of mucosa-associated lymphoid tissue lymphoma.

Farinha P, Gascoyne RD.

J ClinOncol 2005; 23: 6370-6378. (REVIEW)

PMID 16155022

Antigen-receptor signaling to nuclear factor kappa B.

Schulze-Luehrmann J, Ghosh S.

Immunity 2006; 25: 701-715. (REVIEW)

PMID 17098202

Contributor(s)

Written	03-2008	Berthold Streubel
		Medical University of Vienna, Dept. of Pathology, WaehringerGuertel 18-20, A-1090 Vienna, Austria

Citation

This paper should be referenced as such :

Streubel B . t(14;18)(q32;q21)(IgH/MALT1). Atlas Genet Cytogenet Oncol Haematol. March 2008 . URL : http://AtlasGeneticsOncology.org/Genes/t1418q32q21ID1350.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Aug 11 21:20:59 2008

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