The deletion of chromosome Ip is one of the frequent genetic alterations fo
und in testicular germ cell tumors (GCTs), suggesting the presence of a tum
or suppressor gene. BCL10, which was identified as a gene altered in mucosa
-associated lymphoid tissue lymphoma, has been mapped at 1p22. The gene has
been reported to be mutated in a variety of human cancers. In this study,
we investigated the allelic deletions on Ip and the mutation of BCL10 in 51
GCTs comprising 30 seminomas and 21 non-seminomatous germ cell tumors. Los
s of heterozygosity (LOH) on 1p was tested using three microsatellite marke
rs. The search for BCL10 mutations in each of the three exons was screened
by a single-stranded conformation polymorphism (SSCP) analysis and samples
with abnormal bandshifts were directly sequenced. LOH at at least one locus
tested was found in 42% (21/49) of the tumors (43% of seminomas and 38% of
NSGCTs). SSCP and direct sequence analyses revealed that there were single
nucleotide polymorphisms at codon 5, 8, 162, and intron 1. However, there
were no somatic mutations of BCL10 in the 51 tumors. In support of the prev
ious studies, our results demonstrated that LOH on Ip is frequent in both s
eminomas and NSGCTs, indicating that there is an important tumor suppressor
on IF in GCT. However. the results indicate that BCL10 is not a candidate
target gene of the Ip deletion. (C) 2001 Elsevier Science Inc. All rights r
eserved.