- Study was part of The Cancer Genome Atlas.
- Head and neck squamous cell carcinoma was found to be genomically heterogeneous.
- Many genomic alterations were shared with other squamous tumors.
- Data could lead to new targeted therapies.
The study was part of The Cancer Genome Atlas (TCGA), a National Institutes of Health project to catalog the genetic alterations responsible for several types of cancer, in particular those with a poor prognosis.
“It is likely our study will become a landmark research tool for HNSCC for many years as the secrets included in this massive data set are gradually unlocked,” said David N. Hayes, M.D., M.P.H., an associate professor at the University of North Carolina (UNC), who practices otolaryngology at the UNC Lineberger Comprehensive Cancer Center in Chapel Hill, N.C.
Hayes and colleagues conducted comprehensive genomic analysis of tumor tissue and healthy tissue from 279 patients with previously untreated HNSCC. Eighty percent of the patients reported a history of smoking.
The researchers identified more than 30 sites of significant somatic copy number alteration, or sites of significant change in the number of copies of a certain gene or genetic region. Most of the sites were identical to those recently identified in lung squamous cell carcinoma.
“HNSCC is a tobacco-related cancer,” Hayes said. “We frequently see very altered genomes in other tobacco-related tumors. One of the striking things we observed was a high degree of similarity to other squamous tumors, including lung squamous cell carcinoma. Lessons learned from studying the similarities and differences between tumors, such as these copy number alterations, will be one of the angles researchers will follow to better understand the pathways altered in cancer.”
The researchers also identified differences in alterations between tumors infected with the human papillomavirus (HPV) and those that were negative for the virus. “The current report greatly clarifies an observation that has been made in smaller cohorts of patients with HNSCC that EGFR gene amplification is infrequent in tumors that are infected with HPV but that these same tumors have a high rate of PIK3CA gene mutations,” Hayes said.
This finding raises questions about the efficacy of the EGFR inhibitor approved by the U.S. Food and Drug Administration for the treatment of metastatic HNSCC in patients with HPV-positive tumors, according to Hayes. “It also suggests that these patients may benefit from treatment with the inhibitors of PIK3CA that are in development,” he added. “However, any treatment conclusions should be based on treatment data, which were not part of the TCGA study.”
Press registration for the AACR Annual Meeting 2013 is free to qualified journalists and public information officers.
About the American Association for Cancer Research
Founded in 1907, the American Association for Cancer Research (AACR) is the world’s first and largest professional organization dedicated to advancing cancer research and its mission to prevent and cure cancer. AACR membership includes more than 34,000 laboratory, translational and clinical researchers; population scientists; other health care professionals; and cancer advocates residing in more than 90 countries. The AACR marshals the full spectrum of expertise of the cancer community to accelerate progress in the prevention, biology, diagnosis and treatment of cancer by annually convening more than 20 conferences and educational workshops, the largest of which is the AACR Annual Meeting with more than 17,000 attendees. In addition, the AACR publishes eight peer-reviewed scientific journals and a magazine for cancer survivors, patients and their caregivers. The AACR funds meritorious research directly as well as in cooperation with numerous cancer organizations. As the scientific partner of Stand Up To Cancer, the AACR provides expert peer review, grants administration and scientific oversight of team science and individual grants in cancer research that have the potential for near-term patient benefit. The AACR actively communicates with legislators and policymakers about the value of cancer research and related biomedical science in saving lives from cancer. For more information about the AACR, visit www.AACR.org.
In Washington, D.C.,
April 6-10, 2013: