07Mar 2023
Oropharyngeal cancer and metastases: A deep dive into the genetic landscape using multiregional sequencing

Oropharyngeal cancer and metastases: A deep dive into the genetic landscape using multiregional sequencing

The study analyzed the somatic mutational profiles and clonal evolution of primary and metastatic lymph nodes in oropharyngeal squamous cell carcinoma (OPSCC) using multiregion sequencing. The researchers performed high-depth whole-exome sequencing of samples from 18 patients with OPSCC, including primary tumor, metastatic lymph node, and normal tissue samples. The study found that somatic mutations from metastatic lymph nodes showed a different pattern than the primary tumor, and somatic mutations acquired in the WNT pathway during metastasis showed a significant relationship with extranodal extension. Clonal evolution analysis of primary and metastatic lymph nodes showed that, in some cases, each metastatic lymph node originated from a different primary tumor subclone. The mutation profiles of HPV-positive OPSCC and HPV-negative OPSCC were similar to those reported previously, with somatic mutations in CDKN2A and TP53 frequently detected in HPV-negative OPSCC and APOBEC-related signatures detected in HPV-positive OPSCC samples.

  • #oncology

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