Somatic alterations and mutational burden are potential predictive factors for metachronous development of early gastric cancer

Sci Rep. 2020 Dec 16;10(1):22071. doi: 10.1038/s41598-020-79195-0.

Abstract

The risk of developing metachronous gastric cancer (MGC) following curative endoscopic submucosal dissection (ESD) of early gastric cancer (EGC) remains even after eradicating Helicobacter pylori (HP) successfully. We screened initial EGC and adjacent non-cancerous mucosa ESD-resected specimens for somatic variants of 409 cancer-related genes, assessing their mutational burden (MB) to predict molecular markers for metachronous post-ESD development. We compared variants between ten patients diagnosed with MGC more than 3 years after ESD and ten age-matched patients who did not have MGC developments after successful HP eradication. We found no significant background differences between the two groups. In adjacent non-cancerous mucosa, the MB tended to be higher in the patients with metachronous developments than in the others. Somatic genomic alterations of RECQL4, JAK3, ARID1A, and MAGI1 genes were significantly associated with MGC development. The criteria including both the MB and their variants, which had potential significant values for predicting MGC. In conclusion, combined of assessing specific somatic variants and MB may be useful for predicting MGC development. This study included a limited number of subjects; however, our novel findings may encourage further exploration of the significance of the molecular features of EGC that predict MGC development, thereby promoting focused follow-up strategies and helping elucidate the mechanisms.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Female
  • Gastric Mucosa* / metabolism
  • Gastric Mucosa* / microbiology
  • Gastric Mucosa* / pathology
  • Helicobacter Infections* / genetics
  • Helicobacter Infections* / metabolism
  • Helicobacter Infections* / pathology
  • Helicobacter pylori / metabolism*
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Neoplasm Proteins* / genetics
  • Neoplasm Proteins* / metabolism
  • Retrospective Studies
  • Stomach Neoplasms* / genetics
  • Stomach Neoplasms* / metabolism
  • Stomach Neoplasms* / microbiology
  • Stomach Neoplasms* / pathology

Substances

  • Neoplasm Proteins