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.

Highly cited references

Pubmed IDYearTitleCitations
189272812008Mucosa-associated lymphoid tissue lymphoma: novel translocations including rearrangements of ODZ2, JMJD2C, and CNN3.47
171225102006The incidence and anatomic site specificity of chromosomal translocations in primary extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma) in North America.43
156824432005MALT lymphoma with t(14;18)(q32;q21)/IGH-MALT1 is characterized by strong cytoplasmic MALT1 and BCL10 expression.35
158672342005High relapse rate in patients with MALT lymphoma warrants lifelong follow-up.33
205206402010Differential expression of NF-kappaB target genes in MALT lymphoma with and without chromosome translocation: insights into molecular mechanism.32
212616812011MALT lymphoma: many roads lead to nuclear factor-κb activation.31
274526672016MALT lymphoma: A paradigm of NF-κB dysregulation.30
180401432007MALT lymphoma : recent advances in aetiology and molecular genetics.25
175250892007Clinical impact of genetic aberrations in gastric MALT lymphoma: a comprehensive analysis using interphase fluorescence in situ hybridisation.21
282887072017MALT lymphoma: Genetic abnormalities, immunological stimulation and molecular mechanism.14
237200882013Molecular and genomic aberrations in Chlamydophila psittaci negative ocular adnexal marginal zone lymphomas.11
184456932008Translocations involving the immunoglobulin heavy chain gene locus predict better survival in gastric diffuse large B-cell lymphoma.11
223828922012Chlamydia psittaci-negative ocular adnexal marginal zone B-cell lymphomas have biased VH4-34 immunoglobulin gene expression and proliferate in a distinct inflammatory environment.9
204309652010The t(14;18)(q32;q21)/IGH-MALT1 translocation in MALT lymphomas is a CpG-type translocation, but the t(11;18)(q21;q21)/API2-MALT1 translocation in MALT lymphomas is not.9
145743352004Primary pulmonary MALT lymphomas show frequent and heterogeneous cytogenetic abnormalities, including aneuploidy and translocations involving API2 and MALT1 and IGH and MALT1.8
278733172017The B-cell-activating factor signalling pathway is associated with Helicobacter pylori independence in gastric mucosa-associated lymphoid tissue lymphoma without t(11;18)(q21;q21).7
199656262010The t(14;18)(q32;q21)/IGH-MALT1 translocation in MALT lymphomas contains templated nucleotide insertions and a major breakpoint region similar to follicular and mantle cell lymphoma.7
166301782006t(14;18)(q32;q21) involving IGH and MALT1 is uncommon in cutaneous MALT lymphomas and primary cutaneous diffuse large B-cell lymphomas.7
285050072017AL Amyloidoma of the Skin/Subcutis: Cutaneous Amyloidosis, Plasma Cell Dyscrasia or a Manifestation of Primary Cutaneous Marginal Zone Lymphoma?6
196692122008Extranodal marginal zone lymphoma of the dura mater with IgH/MALT1 translocation and review of literature.6
246794862014Chromosomal anomalies in primary cutaneous follicle center cell lymphoma do not portend a poor prognosis.5
168309562006Primary cutaneous marginal zone B-cell lymphoma.5
156824322005FISH analysis of MALT lymphoma-specific translocations and aneuploidy in primary cutaneous marginal zone lymphoma.5
242368962014The t(14;18)(q32;q21)/IGH-MALT1 translocation in gastrointestinal extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma).4
175196192007Primary cutaneous marginal zone B-cell lymphoma may exhibit both the t(14;18)(q32;q21) IGH/BCL2 and the t(14;18)(q32;q21) IGH/MALT1 translocation: an indicator for clonal transformation towards higher-grade B-cell lymphoma?4
264570332015Clinicopathologic Study of Chromosomal Aberrations in Ocular Adnexal Lymphomas of Korean Patients.3
218377082011Establishment of a novel MALT lymphoma cell line, ma-1, from a patient with t(14;18)(q32;q21)-positive Helicobacter pylori-independent gastric MALT lymphoma.3
190945842008[Frequency of genetic aberrations in mucosa-associated lymphoid tissue lymphoma of different sites].2
168049172006A novel fusion of the MALT1 gene and the microtubule-associated protein 4 (MAP4) gene occurs in diffuse large B-cell lymphoma.2
146528252003T(14;18)(q32;q21) involving MALT1 and IGH genes in an extranodal diffuse large B-cell lymphoma.2
282786992017MALT1 sequencing analyses in marginal zone B-cell lymphomas reveal mutations in the translocated MALT1 allele in an IGH-MALT1-positive MALT lymphoma.1
210550282010[Study on genetic aberrations of ocular mucosa-associated lymphoid tissue lymphomas occurring in southern China].1
306267962018[MALT lymphoma accompanied by elevated serum IgM levels mimicking Waldenström's macroglobulinemia].0
235087792013No evidence of IGH-MALT1 translocation in the Ma-1 cell line.0
235087482013No evidence of IGH-MALT1-translocation in the Ma-1 cell line--a reply.0
227817982012[Clinicopathologic analysis of nodal marginal zone B cell lymphoma].0
195760812009[A clinical study of chromosome translocations in extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue in Chinese patients].0
171997432007MALT1, BCL10 and FOXP1 in salivary gland mucosa-associated lymphoid tissue lymphomas.0

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