Low frequency of BCL10 gene mutations in B-Cell non-Hodgkin's lymphoma

The BCL10 gene was identified at the breakpoint region of the t(1;14)(p22;q 32) translocation in mucosa-associated lymphoid tissue lymphoma. Initially, mutations in the BCL10 gene were reported to occur at a high frequency in various types of lymphomas and solid tumors. However, subsequent studies sh owed that the mutations were rarely recognized. To evaluate the frequency a nd spectrum of its mutations in B-cell non-Hodgkin's lymphoma (B-NHL), we s creened 56 cases with B-NHL by mutation analysis of exons 2 and 3 of the ge ne. In addition to 2 polymorphisms, a frame-shift mutation and a missense m utation were identified in 2 cases (3.6%): 1 with diffuse large B-cell lymp homa and the other with mantle cell lymphoma. Both cases showed mutations w ithin exon 3, resulting in a C-terminal truncation in the former and a C-te rminal amino acid substitution in the latter. Reverse transcriptase-polymer ase chain reaction analysis of the former case revealed that both the mutat ed and the wild-type alleles were transcribed with or without a sequence mo dification. Our results, together with recent reports, indicate that BCL10 gene mutations take place in a small population of B-NHL and are not associ ated with specific histological subtypes. (C) 2001 The Japanese Society of Hematology.