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

2008-03-01   Berthold Streubel 

1.Medical University of Vienna, Dept. of Pathology, WaehringerGuertel 18-20, A-1090 Vienna, Austria

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).

Genes Involved and Proteins

Gene name
IGH (Immunoglobulin Heavy)
Location
14q32.33
Gene name
MALT1 (mucosa associated lymphoid tissue lymphoma translocation gene 1)
Location
18q21.32
Protein description
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

Note

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

Bibliography

Pubmed IDLast YearTitleAuthors
161550222005Molecular pathogenesis of mucosa-associated lymphoid tissue lymphoma.Farinha P et al
152867442004MALT lymphoma: from morphology to molecules.Isaacson PG et al
125602192003MALT1 is deregulated by both chromosomal translocation and amplification in B-cell non-Hodgkin lymphoma.Sanchez-Izquierdo D et al
170982022006Antigen-receptor signaling to nuclear factor kappa B.Schulze-Luehrmann J et al
153566422004Variable frequencies of MALT lymphoma-associated genetic aberrations in MALT lymphomas of different sites.Streubel B et al
110906342000Identification of paracaspases and metacaspases: two ancient families of caspase-like proteins, one of which plays a key role in MALT lymphoma.Uren AG et al

Summary

Atlas Image
t(14;18)(q32;q21) with additional cytogenetic abnormalities in a hepatic MALT lymphoma. FISH demonstrated an IGH-MALT1 rearrangement.

Citation

Berthold Streubel

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

Atlas Genet Cytogenet Oncol Haematol. 2008-03-01

Online version: http://atlasgeneticsoncology.org/haematological/1350/t(14;18)(q32;q21)

External Links