Genomic evolution of a metastatic oral squamous cell carcinoma: a case report, molecular analysis, and review of the literature.

BACKGROUND

Metastasis to the peritoneum is a rare but aggressive manifestation of squamous cell carcinoma of the head and neck (SCCHN). The specific drivers of metastasis in SCCHN remain unclear. We describe a case of recurrent, metastatic SCCHN and explore the potential role of acquired genomic alterations on the disease course.

METHODS

Mutational profiling of serial tumor specimens was conducted. Identified mutations were compared to TCGA SCCHN data.

RESULTS

Tumor specimens showed the progressive accumulation of mutations in TP53, NOTCH1, APC, and SMAD4.

CONCLUSION

This case provides insight into potential metastatic drivers in SCCHN, particularly SMAD4 and the TGF-b pathway, which are integral in controlling epithelial cell proliferation and dedifferentiation.