Sylvester Participates in Head and Neck Genomic Study in Nature

A team of cancer researchers from Sylvester Comprehensive Cancer Center at the University of Miami has participated in an international multi-center study that has identified genomic changes in head and neck cancers that are linked to HPV, the human papillomavirus – findings that could have important clinical implications. The study, “Comprehensive genomic characterization of head and neck squamous cell carcinomas,” is published in the January 29 online issue of the journal Nature.

The findings stem from research conducted by The Cancer Genome Atlas, a research network made up of more than 150 researchers at dozens of institutions across the nation and the world. Sylvester’s Tissue Bank Core Facility has been part of The Cancer Genome Atlas since 2010, providing tissue samples for a series of genomic studies aimed toward better understanding the molecular nature of certain cancers. The five-year program is supported and managed by the National Cancer Institute and the National Human Genome Research Institute, both part of the National Institutes of Health.

In this study, Carmen Gomez-Fernandez, M.D., professor of pathology and Medical Director of the Tissue Bank Core Facility at Sylvester, Sophie Egea, Ph.D., former Core Director of the Tissue Bank Core Facility at Sylvester and now Senior Manager of Business Operations for the UM Brain Tumor Initiative, and Lynn Herbert, M.S., Biospecimen Operations Manager at the Tissue Bank, provided head and neck squamous cell tumor tissue for the analysis that was performed at the University of North Carolina.

While 25 percent of head and neck cancers are linked to HPV infection, the number of such cases has been growing in recent years. An estimated 55,000 people developed head and neck cancer in the U.S. in 2014, and 12,000 Americans die from the disease each year.

Researchers performed genomic analyses on 279 head and neck squamous cell carcinomas in what was the most comprehensive examination to date of genomic alterations in head and neck cancers. In the findings, scientists confirmed that many patients with HPV-associated tumors have specific alterations of the gene FGFR3 and mutations in the PIK3CA gene, which are also found in a much broader set of mutations in smoking-related tumors.

The investigators also discovered that genes affecting about 40 percent of such cancers form key parts of a pathway that helps determine cell survival and drug resistance. Extra copies of the genes FADD and BIRC2, or mutations in or the absences of the CASP8 gene in smoking-related cancers, may be the reason for resistance to current treatments.

Additionally, the researchers found similarities between head and neck cancer genomes and other cancers, including squamous cell lung and cervical cancer, indicating possible common paths of development and hopefully potential treatment options.

“By better understanding these molecular differences,” said Gomez-Fernandez, “we hope to be able to develop more precise and effective therapies.”
“We are proud to take part in this critical work” said Egea. “Sylvester’s support of the Tissue Core Facility has enabled us to advance the field and The Cancer Genome Atlas.”

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