Lack of BCL10 Mutations in Germ Cell Tumors and B Cell Lymphomas

while exon 1 variants exhibited a complex pattern (Figure 1A). In order to determine if the SSCP variants represent somatic mutations or genetic polymorphisms, we analyzed paired normal-tumor DNAs by SSCP in 14 of 15 exon 1 variants and all 5 exon 3 variants in GCTs. The BCL10 gene has recently been cloned from the We found identical SSCP variants in all cases, sug-chromosomal translocation t(1;14)(p22;q32) in a low-gesting that these represent genetic polymorphisms. grade mucosa-associated lymphoid tissue (MALT) lym-To identify the nature of alterations associated with phoma, and was implicated in the pathogenesis of this conformation variations, we determined the sequences and several other tumor types (Willis et al., 1999). BCL10 of 9 exon 3 (paired normal-tumor DNAs in 5 GCTs and is a cellular homolog of the equine herpesvirus-2 E10 4 lymphomas) variants and 12 exon 1 variants (paired gene, which contains an amino-terminal caspase re-normal-tumor DNAs in 7 GCTs and 4 lymphomas) (Table cruitment domain (CARD) and plays a role in apoptosis. 1). We found identical sequences in both normal and Willis et al. (1999) also showed that BCL10 exhibits hy-tumor DNAs in each case. Although we did not find permutations in MALT lymphomas with t(1;14) as well SCCP variants in the 3 GCT cell lines (Tera-1, Tera-2, as frequent mutations in 45% of B and T cell lineage and GCT-44), we sequenced the exons and found no lymphomas without the 1p22 chromosomal rearrange-sequence alterations (Figure 1B). This analysis also ments. In addition, they reported BCL10 mutations in identified the sequence variation reflected in SSCP vari-cell lines derived from several solid tumor types includ-ants. The region amplified for exon 1 exhibited 3 different ing three each of male germ cell tumors (GCTs) and polymorphisms, 2 in the coding region and one in 5Ј mesotheliomas, suggesting that it may be commonly intron 1. These included G/T in the first base of codon involved in the pathogenesis of many human malignan-5, G/C at the third base of codon 8, and a C/G polymor-cies. The 1p22 region is affected by frequent deletions phism in intron 1. The polymorphism in exon 3 was in male GCTs (Mathew et al., 1994) and mesotheliomas G/A at second base of codon 213. Consistent with the (Lee et al., 1996), suggesting that inactivation of a critical reported high frequency of LOH at the 1p22 region in gene in this region may play a role in …