Published online Dec 27, 2023. doi: 10.4240/wjgs.v15.i12.2855
Peer-review started: September 13, 2023
First decision: September 28, 2023
Revised: October 18, 2023
Accepted: November 21, 2023
Article in press: November 21, 2023
Published online: December 27, 2023
Processing time: 105 Days and 3.9 Hours
Gastric cancer (GC) is the third most common malignant tumor in China, and its incidence is much higher than that in Western countries. This study provides crucial molecular data on GC in Chinese patients because large-scale Chinese genetic evidence is lacking. This study revealed that TP53 and CDH1 mutations affect two important pathways in the occurrence and development of GC. The pathogenesis of GC in the Han Chinese population (in the middle and lower reaches of the Yangtze River), as well as the diagnosis and treatment of GC, would benefit from our findings.
One of the challenges to the design of effective treatments for GC is heterogeneity, its poses an obstacle for the uniform therapy plan irrespective of specific subtypes of tumors in clinical practice.
TP53 and CDH1 have been reported to be closely related to GC; therefore, we aimed to investigate the clinical outcomes of TP53 and CDH1 mutations in GC.
Two hundred and two primary GC tissues and matched non-cancerous (NC) tissues were sampled via surgery. After DNA extraction for cancer tissue and NC tissue, DNA was captured using customized panel from Roche NimbleGen Inc. The customized panel included the exons and hotspots of 490 genes with a total length of 1 Mb 10 sequencer (Illumina, Inc).
The mutation rates of 32 genes exceeded 10% including TP53, SPEN, FAT1, and CDH1 etc. We found that TP53 mutations had a slightly lower overall occurrence rate (33%), whereas the mutation type was similar to that reported in other studies. The TP53 mutation rate was significantly higher in the advanced stages (stage III/IV) than that in the early stages (stage I/II) (P < 0.05). In contrast, we also found that CDH1 mutation is significantly related to diffuse GC. TP53 is related to the poor prognosis of advanced-stage tumors; nevertheless, CDH1 corresponds to a diffuse type of cancer. Moreover, TP53 was exclusively mutated to CDH1, which is the major reason for the two different GC mechanisms.
Different somatic mutation patterns of TP53 and CDH1 indicate two major mechanisms underlying GC.
Understanding the mutational landscape of TP53 and CDH1 would positively affect the pathogenesis of GC in the Han Chinese population (in the middle and lower reaches of the Yangtze River), as well as guiding the diagnosis and treatment of GC.