Detection of AP12-MALT1 chimaeric gene in extranodal and nodal marginal zone B-cell lymphoma by reverse transcription polymerase chain reaction (PCR) and genomic long and accurate PCR analyses

t(11;18)(q21;q21) has been recognized as a characteristic chromosomal translocation in mucosa-associated lymphoid tissue (MALT)-type lymphoma, and recent studies have demonstrated that this translocation results in the chimaeric transcript of API2 (apoptosis inhibitor 2)-MALT1 (mucosa-associated lymphoid tissue lymphoma translocation gene 1). In this study, we used reverse transcription polymerase chain reaction (RT–PCR) to analyse the incidence of this fusion product in a large series of MALT lymphoma, nodal marginal zone B-cell lymphoma (nMZBCL) and extranodal diffuse large B-cell lymphoma (DLBL) cases. RT–PCR analysis revealed that 17 of the 95 (17·9%) MALT lymphomas but none of the nine nMZBCLs or 16 DLBLs had API2-MALT1 fusion transcripts. The incidence of API2-MALT1 varied among MALT lymphomas arising from different sites and was highest for pulmonary MALT lymphomas (10 out of 16 cases, 62·5%). The presence of the API2-MALT1 fusion gene was also confirmed by long and accurate (LA)–PCR with genomic DNA, and the result correlated well with that obtained with the RT–PCR assay, thus demonstrating the usefulness of LA–PCR for the detection of the API2-MALT1 fusion gene.