微卫星不稳定的胃癌和结直肠癌中 SMC2 基因的突变和表达分析。
Mutational and expressional analysis of SMC2 gene in gastric and colorectal cancers with microsatellite instability.
机构信息
Department of Pathology, College of Medicine, The Catholic University of Korea, Seoul, Korea.
出版信息
APMIS. 2014 Jun;122(6):499-504. doi: 10.1111/apm.12193. Epub 2014 Feb 1.
Structural maintenance of chromosomes 2 (SMC2) gene encodes condensin complexes that are required for proper chromosome segregation and maintenance of chromosomal stability. Although cells with defective chromosome segregation become aneuploid and are prone to harbor chromosome instability, pathologic implications of SMC2 gene alterations are largely unknown. In a public database, we found that SMC2 gene had mononucleotide repeats that could be mutated in cancers with microsatellite instability (MSI). In this study, we analyzed these repeats in 32 gastric cancers (GC) with high MSI (MSI-H), 59 GC with low MSI (MSI-L)/stable MSI (MSS), 43 colorectal cancers (CRC) with MSI-H and 60 CRC with MSI-L/MSS by single-strand conformation polymorphism (SSCP) and DNA sequencing. We also analyzed SMC2 protein expression in GC and CRC tissues using immunohistochemistry. We found SMC2 frameshift mutations in two GC and two CRC that would result in truncation of SMC2. The mutations were detected exclusively in MSI-H cancers, but not in MSI-L/MSS cancers. Loss of SMC2 expression was observed in 22% of GC and 25% of CRC. Of note, all of the cancers with SMC2 frameshift mutations displayed loss of SMC2 expression. Also, both GC and CRC with MSI-H had significantly higher incidences in SMC2 frameshift mutations and loss of SMC2 expression than those with MSI-L/MSS. Our data indicate that SMC2 gene is altered by both frameshift mutation and loss of expression in GC and CRC with MSI-H, and suggest that SMC2 gene alterations might be involved in pathogenesis of these cancers.
结构维持染色体 2 ( SMC2 )基因编码凝聚复合物,这是必需的适当的染色体分离和维持染色体的稳定性。虽然细胞有缺陷的染色体分离成为非整倍体,并容易携带染色体不稳定,但 SMC2 基因改变的病理意义在很大程度上是未知的。在一个公共数据库中,我们发现 SMC2 基因有单核苷酸重复,可能会在微卫星不稳定( MSI )的癌症中发生突变。在这项研究中,我们分析了这些重复在 32 例胃腺癌( GC )高微卫星不稳定性( MSI-H ), 59 例胃腺癌( GC )低微卫星不稳定性( MSI-L )/稳定微卫星不稳定性( MSS ), 43 例结直肠癌( CRC ) MSI-H 和 60 例结直肠癌( CRC ) MSI-L/MSS 通过单链构象多态性( SSCP )和 DNA 测序。我们还分析了 SMC2 蛋白在胃癌和结直肠癌组织中的表达采用免疫组织化学法。我们发现 SMC2 移码突变在两个 GC 和两个 CRC ,这将导致 SMC2 的截断。这些突变只检测到 MSI-H 癌症,但不在 MSI-L/MSS 癌症。 SMC2 表达缺失在 22 %的 GC 和 25 %的 CRC 。值得注意的是,所有的癌症 SMC2 移码突变显示 SMC2 表达缺失。此外, GC 和 CRC 与 MSI-H 有 SMC2 移码突变和 SMC2 表达缺失的发生率显著高于 MSI-L/MSS 。我们的数据表明, SMC2 基因在 GC 和 CRC 中发生移码突变和表达缺失,并且 SMC2 基因改变可能参与这些癌症的发病机制。