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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.
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