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Prepublished online as a Blood First Edition Paper on October 24, 2002; DOI 10.1182/blood-2002-09-2963.

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Submitted September 30, 2002
Accepted October 17, 2002

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

Berthold Streubel, Andrea Lamprecht, Judith Dierlamm, Lorenzo Cerroni, Manfred Stolte, German Ott, Markus Raderer, and Andreas Chott*

Department of Pathology, University of Vienna, Vienna, Austria
Department of Hematology and Oncology, University Hospital Hamburg-Eppendorf, Hamburg, Germany
Department of Dermatology, University of Graz, Graz, Austria
Department of Pathology, Klinikum Bayreuth, Bayreuth, Germany
Department of Pathology, University of Wuerzburg, Wuerzburg, Germany
Department of Oncology, University of Vienna, Vienna, Austria

* Corresponding author; email: andreas.chott{at}akh-wien.ac.at.

T(11;18)(q21;q21) is the most common structural abnormality in extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma) leading to the fusion of the apoptosis inhibitor-2 (API2) gene and the MALT lymphoma-associated translocation (MALT1) gene. In two patients with MALT lymphoma of the liver and skin, respectively, t(14;18)(q32;q21) was observed by cytogenetic analysis. Subsequent fluorescence in situ hybridization (FISH) studies disclosed that the immunoglobulin heavy chain locus (IGH) and the MALT1 gene were rearranged by this translocation. In order to screen a large series of MALT lymphomas for this aberration, a two-color interphase FISH assay was established. Among a total of 66 cases t(14;18)(q32;q21) involving IGH and MALT1 was detected in MALT lymphomas of the liver (4/4), skin (3/11), ocular adnexa (3/8), and salivary gland (2/11), but did not occur in MALT lymphomas of the stomach (n=10), intestine (n=9), lung (n=7), thyroid (n=4), and breast (n=2). In total, 12 of 66 (18%) MALT lymphomas harbored t(14;18)(q32;q21), 7 additional cases of splenic marginal zone lymphoma were tested negative. All of the 12 MALT lymphomas featuring the t(14;18)(q32;q21) were negative for t(11;18)(q21;q21) by RT-PCR, however, trisomy 3 and/or 18 was found in 4/12 cases, suggesting that the t(14;18)(q32;q21) does not occur as the sole genetic abnormality. This study identifies IGH as a new translocation partner of MALT1 in MALT lymphomas, which tend to arise frequently at sites other than the gastrointestinal tract and lung. In contrast to t(11;18)(q21;21)+ MALT lymphomas, those with t(14;18)(q32;q21) may harbor additional genetic abnormalities.


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