Investigation of clinicopathological characters and gene expression features in colorectal signet‑ring cell carcinoma utilizing CMS classification

Abstract

Signet ring cell carcinoma (SRCC) is a rare pathological type of colorectal cancer, of which the clinicopathological features and genetic background have not yet been fully investigated. Previous research has focused on the optimization of colorectal cancer treatment utilizing consensus molecular subtyping (CMS). However, it is not known what type of CMS would be designated to SRCC treatment. In the current study, of 1,350 patients diagnosed with colorectal cancer who underwent surgery, 14 were diagnosed with SRCC. The case-control cohort that fit the clinical background of the SRCC case was constructed. Statistical comparison between the SRCC group and the case-control cohort was performed among clinicopathological variables. SRCC and well to moderately adenocarcinoma case mRNA were submitted to microarray analysis and CMS analysis. Compared with the case-control cohort, the SRCC group was located more in the right-sided colon, the lymphatic invasion was more severe and the peritoneal dissemination was more frequent. The cancer-specific survival and the progression-free survival were significantly worse in the SRCC group compared with the case-control cohort. Microarray and CMS analysis identified that one SRCC case was significantly well assigned in the CMS 4 group and the other case was assigned in the CMS 1 group. Gene set analysis revealed the upregulation of EMT related genes and the downregulation of fatty acid, glycolysis, differentiation, MYC, HNF4A, DNA repair genes. In conclusion, the clinical characteristics of SRCC are severe but there is a possibility of the presence of different phenotypes according to CMS analysis.

Molecular characteristics of patients with colorectal signet-ring cell carcinoma with different ABO blood groups

“…SRCC is characterized by a high rate of MUC2 expression owing to the accumulation of mucin in the intracytoplasm [ 14 ]. SRCC is also associated with a high frequency of MSI-H [ 15 ] and mutations in the Ras/MAPK, PI3K/AKT, and EMT pathways [ [16] , [17] , [18] ]. Evidence has shown that colorectal SRCC remains a vague entity that resembles AC in some clinicopathological and molecular aspects [ 17 ] as well as mucinous adenocarcinoma (MAC).…”

Molecular characteristics of patients with colorectal signet-ring cell carcinoma with different ABO blood groups

“…SRCC is characterized by a high rate of MUC2 expression due to the accumulation of mucin in intracytoplasm 8 . SRCC is also associated with a high frequency of MSI-H 9 and mutations that pass through the Ras/MAPK, PI3K/AKT and EMT pathways 10,11,12 . Evidence has shown that colorectal SRCC remains a vague entity that resembles AC in some clinicopathological and molecular respects, as well as mucinous adenocarcinoma (MAC).…”