Department of Pathology, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Pathology. 2010 Jan;42(1):73-6. doi: 10.3109/00313020903434371.
Evasion of apoptosis is a feature of cancer cells. As a mechanism of apoptosis inactivation in cancer cells, somatic mutations of pro-apoptotic genes have been reported in many cancers. Caspase-10 is an initiation-phase caspase, and somatic mutation of CASP10 that encodes caspase-10 has been found in non-Hodgkin's lymphoma and gastric carcinoma.
The aim of this study was to explore whether CASP10 gene is somatically mutated in colon, breast, lung, and hepatocellular carcinomas. We analysed the entire coding region and all splice sites of CASP10 in 47 colon, 47 breast, 47 lung, and 47 hepatocellular carcinomas by a single-strand conformation polymorphism (SSCP) assay.
We found two CASP10 mutations in the colon cancers (2/47; 4.3%), but none in breast, lung or hepatocellular carcinomas. One mutation [c.41A > C (p.Lys14Thr)] was a missense mutation, while the other was a substitution mutation in a splice site (c.684 + 4G > A). The colon cancer with the CASP10 missense mutation harboured additional CASP gene mutations (CASP3, 7 and 8).
Our data indicate that somatic mutation of CASP10 is rare in colon, breast, lung, and hepatocellular carcinomas. However, the data also suggest that CASP10 mutation might contribute to the pathogenesis of some colon carcinomas together with other CASP gene mutations.
细胞凋亡的逃避是癌细胞的一个特征。作为癌细胞中凋亡失活的一种机制，已在许多癌症中报道了促凋亡基因的体细胞突变。半胱天冬酶-10 是起始阶段的半胱天冬酶，编码半胱天冬酶-10 的 CASP10 体细胞突变已在非霍奇金淋巴瘤和胃癌中发现。
本研究的目的是探讨 CASP10 基因是否在结肠癌、乳腺癌、肺癌和肝细胞癌中发生体细胞突变。我们通过单链构象多态性 (SSCP) 分析检测了 47 例结肠癌、47 例乳腺癌、47 例肺癌和 47 例肝细胞癌中 CASP10 的整个编码区和所有剪接位点。
我们在结肠癌中发现了 2 个 CASP10 突变（2/47；4.3%），但在乳腺癌、肺癌或肝细胞癌中均未发现。一个突变为 c.41A > C (p.Lys14Thr)，为错义突变，另一个突变为剪接位点的取代突变（c.684 + 4G > A）。携带 CASP10 错义突变的结肠癌还存在其他 CASP 基因突变（CASP3、7 和 8）。
我们的数据表明，CASP10 的体细胞突变在结肠癌、乳腺癌、肺癌和肝细胞癌中很少见。然而，数据还表明，CASP10 突变可能与其他 CASP 基因突变一起导致某些结肠癌的发病机制。
