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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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Blood, 15 March 2003, Vol. 101, No. 6, pp. 2335-2339
NEOPLASIA
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
From the Departments of Pathology and Internal
Medicine I, Division of Oncology, Vienna General Hospital, University
of Vienna, Vienna, Austria; the Department of Oncology and
Hematology, University Hospital Hamburg-Eppendorf, Hamburg,
Germany; the Department of Dermatology, University of
Graz, Graz, Austria; the Department of Pathology, Klinikum
Bayreuth, and the Institute of Pathology, Würzburg University,
Würzburg, Germany.
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 2 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 2-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 of 4), skin (3 of 11),
ocular adnexa (3 of 8), and salivary gland (2 of 11), but did not occur in MALT lymphomas of the stomach (n = 10), intestine (n = 9), lung
(n = 7), thyroid (n = 4), or 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 tested negative. All of the 12 MALT
lymphomas featuring the t(14;18)(q32;q21) were negative for
t(11;18)(q21;q21) by reverse transcriptase-polymerase chain reaction
(RT-PCR). However, trisomy 3 and/or 18 was found in 4 of 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;q21)+ MALT
lymphomas, those with t(14;18)(q32;q21) may harbor additional genetic abnormalities.
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