Colorectal mucinous adenocarcinoma (MAC) is one of the most lethal histological types of colorectal cancer, and its mechanism of development is not well understood. In this study, we aimed to clarify the molecular characteristics of MAC via in silico analysis using The Cancer Genome Atlas database. The expression of genes on chromosome 20q (Chr20q) was negatively associated with the expression of MUC2, which is a key molecule that can be used to distinguish between MAC and nonmucinous adenocarcinoma (NMAC). This was consistent with a significant difference in copy number alteration of Chr20q between the two histological types. We further identified 475 differentially expressed genes (DEGs) between MAC and NMAC, and some of the Chr20q genes among the DEGs are considered to be pivotal genes used to define MAC. Both in vitro and in vivo analysis showed that simultaneous knockdown of POFUT1 and PLAGL2, both of which are located on Chr20q, promoted MUC2 expression. Moreover, these genes were highly expressed in NMAC but not in MAC according to the results of immunohistological studies using human samples. In conclusion, POFUT1 and PLAGL2 are considered to be important for defining MAC, and these genes are associated with MUC2 expression.

中文翻译：

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POFUT1和PLAGL2是与MUC2表达相关的粘液性结直肠癌的特征标志物

结直肠粘液腺癌（MAC）是结直肠癌最致命的组织学类型之一，其发展机制尚不清楚。在这项研究中，我们旨在通过使用癌症基因组图谱数据库进行计算机分析来阐明 MAC 的分子特征。 20q染色体（Chr20q）上基因的表达与以下基因的表达呈负相关：MUC2，它是可用于区分 MAC 和非粘液腺癌 (NMAC) 的关键分子。这与两种组织学类型之间 Chr20q 拷贝数改变的显着差异一致。我们进一步鉴定了 MAC 和 NMAC 之间的 475 个差异表达基因（DEG），DEG 中的一些 Chr20q 基因被认为是用于定义 MAC 的关键基因。体外和体内分析均表明同时敲低POFUT1和PLAGL2，两者都位于 Chr20q，提升MUC2表达。此外，根据使用人类样本的免疫组织学研究结果，这些基因在 NMAC 中高表达，但在 MAC 中不表达。综上所述，POFUT1和PLAGL2被认为对于定义 MAC 很重要，并且这些基因与MUC2表达。