title: BCL10 is not a major target for frequent loss of 1p in testicular germ cell tumors.
abstract: The deletion of chromosome 1p is one of the frequent genetic alterations found in testicular germ cell tumors (GCTs), suggesting the presence of a tumor 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 1p and the mutation of BCL10 in 51 GCTs comprising 30 seminomas and 21 non-seminomatous germ cell tumors. Loss of heterozygosity (LOH) on 1p was tested using three microsatellite markers. 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 previous studies, our results demonstrated that LOH on 1p is frequent in both seminomas and NSGCTs, indicating that there is an important tumor suppressor on 1p in GCT. However, the results indicate that BCL10 is not a candidate target gene of the 1p deletion.
authors.affiliation: Department of Urology, Akita University School of Medicine, 1-1-1 Hondo, 010-8543, Akita, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Kakinuma
authors.forename: T
authors.initials: T
authors.lastname: Habuchi
authors.forename: T
authors.initials: T
authors.lastname: Ito
authors.forename: M
authors.initials: M
authors.lastname: Mishina
authors.forename: K
authors.initials: K
authors.lastname: Sato
authors.forename: S
authors.initials: S
authors.lastname: Satoh
authors.forename: T
authors.initials: T
authors.lastname: Akao
authors.forename: O
authors.initials: O
authors.lastname: Ogawa
authors.forename: T
authors.initials: T
authors.lastname: Kato
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000074018:B-Cell CLL-Lymphoma 10 Protein; D001483:Base Sequence; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D017931:DNA Primers; D006801:Humans; D019656:Loss of Heterozygosity; D008297:Male; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D009373:Neoplasms, Germ Cell and Embryonal / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D013736:Testicular Neoplasms / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D000074018:B-Cell CLL-Lymphoma 10 Protein; C118591:BCL10 protein, human; D017931:DNA Primers; D009363:Neoplasm Proteins