Jin Lingyan, Jin Hye-Yeong, Kim Younghoon, Cho Nam-Yun, Bae Jeong Mo, Kim Jung Ho, Han Sae-Won, Kim Tae-You, Kang Gyeong Hoon
Department of Pathology, Seoul National University College of Medicine, Seoul, Korea.
Laboratory of Epigenetics, Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea.
Histol Histopathol. 2025 Mar;40(3):381-388. doi: 10.14670/HH-18-785. Epub 2024 Jun 25.
Colorectal cancers (CRCs) are traditionally divided into those with either chromosomal instability (CIN) or microsatellite instability (MSI). By utilizing TCGA data, the Laird team found a subset of CRCs, namely, genome-stable CRCs (GS CRCs), which lack both CIN and MSI. Although the molecular features of GS CRCs have been described in detail, the clinicopathological features are not well defined. A total of 437 CRCs were analyzed for copy number variation (CNV) statuses in eight genes ( and ) using droplet-digital PCR. CRCs that showed CNV in ≤ one gene and no MSI were defined as GS-like CRCs. Clinicopathological and molecular features of GS-like CRCs were compared with those of CIN-like CRCs. GS-like CRCs comprised 4.6% of CRCs and showed a predilection toward the proximal colon, lower nuclear optical density, mutation, mutation, and aberrant expression of KRT7. Survival analysis showed no significant difference between the three subgroups. Through our study, the GS-like subtype was found to comprise a minor proportion of CRCs and have proclivity toward a proximal bowel location, hypochromatic tumor nuclei, aberrant KRT7 expression, and a high frequency of and mutations.
结直肠癌（CRCs）传统上分为具有染色体不稳定（CIN）或微卫星不稳定（MSI）的两类。通过利用癌症基因组图谱（TCGA）数据，莱尔德团队发现了一类结直肠癌子集，即基因组稳定的结直肠癌（GS CRCs），其既缺乏CIN也缺乏MSI。尽管GS CRCs的分子特征已被详细描述，但其临床病理特征仍未明确界定。使用液滴数字PCR分析了437例结直肠癌中8个基因（和）的拷贝数变异（CNV）状态。在≤1个基因中显示CNV且无MSI的结直肠癌被定义为GS样结直肠癌。将GS样结直肠癌的临床病理和分子特征与CIN样结直肠癌的特征进行了比较。GS样结直肠癌占结直肠癌的4.6%，且倾向于发生在近端结肠，核光学密度较低，存在突变、突变以及角蛋白7（KRT7）的异常表达。生存分析显示这三个亚组之间无显著差异。通过我们的研究发现，GS样亚型在结直肠癌中占比小，且倾向于发生在近端肠段，肿瘤细胞核呈低色素性，KRT7表达异常，以及和突变的频率较高。
