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Diagnosis of pulmonary lymphoma using small tissue samples is difficult and often requires surgical procedures; thus, a less invasive sampling method is desirable. We previously showed that pulmonary mucosa-associated lymphoid tissue (MALT) lymphoma can be diagnosed by detecting MALT lymphoma translocation gene 1 ( MALT1 ) translocations in bronchoalveolar lavage fluid (BALF) cells. Analysis of B-cell clonality based on immunoglobulin heavy chain ( IGH ) gene rearrangements was also reportedly useful for diagnosing pulmonary lymphoma. The aim of this prospective multicenter study was to evaluate the yet unknown diagnostic potential of combined detection of  MALT1  translocations and clonality using BALF. We analyzed B- and T-cell clonality based on  IGH  and T-cell receptor ( TCR ) rearrangements together with  MALT1  translocations using BALF of patients with clinically suspected pulmonary lymphomas. In total, 39 patients were evaluated and categorized into three groups: B-cell lymphoma, lymphoproliferative disorders, and other diseases.  IGH  rearrangement detection for B-cell lymphoma diagnosis exhibited sensitivity and specificity of 88.9% and 90.0%, respectively.  TCR  rearrangements were not observed in patients with B-cell lymphomas. The presence of  IGH  rearrangements together with the absence of  TCR  rearrangements indicated 96.0% specificity for the diagnosis of B-cell lymphoma. The sensitivity and specificity of  MALT1  translocations for diagnosing MALT lymphoma were 28.6% and 100%, respectively. The combined detection of lymphocyte clonality and  MALT1  translocations using BALF is suitable for screening and diagnosis of B-cell lymphomas. Analysis of specific genes such as  MALT1  should improve the precision of B-cell lymphoma diagnosis.

Combined detection of lymphocyte clonality and MALT1 translocations in bronchoalveolar lavage fluid for diagnosing pulmonary lymphomas