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Area of Science:

  • Oncology
  • Genomics
  • Cancer Research

Background:

  • Oral squamous cell carcinoma (OSCC) is the most common oral cancer.
  • Some patients develop multiple primary oral cancers (MPCs) with unknown causes.
  • Understanding MPCs is crucial for improving patient outcomes.

Purpose of the Study:

  • To investigate clinicopathological features of oral MPCs.
  • To analyze genomic alterations in oral MPCs.
  • To compare oral MPCs with single primary oral cancer (SPC) and recurrent OSCC.

Main Methods:

  • Collected and compared clinicopathological data from 202 SPC and 34 MPC patients.
  • Performed copy number alteration (CNA) analysis.
  • Conducted whole-exome sequencing (WES) and phylogenetic tree analysis.

Main Results:

  • Females predominated oral MPCs (70.59%), unlike SPC.
  • Oral MPCs showed poorer long-term survival.
  • Identified common mutations (CASP8, TP53, MUC16) and rare mutations (HS3ST6, RFPL4A) in MPCs.
  • Found genomic similarities within individual MPCs, differing between synchronous and metachronous tumors.

Conclusions:

  • Oral MPCs have distinct demographic and survival profiles compared to SPC.
  • Genomic analysis reveals shared and unique mutations in oral MPCs.
  • Understanding intra-patient genomic similarities is key for distinguishing synchronous vs. metachronous MPCs.