Detection of somatic mutations and HPV in the saliva and plasma of patients with head and neck squamous cell carcinomas

Yuxuan Wang, Simeon Springer, Carolyn L. Mulvey, Natalie Silliman, Joy Schaefer, Mark Sausen, Nathan James, Eleni M. Rettig, Theresa Guo, Curtis R. Pickering, Justin A. Bishop, Christine H. Chung, Joseph A. Califano, David W. Eisele, Carole Fakhry, Christine G. Gourin, Patrick K. Ha, Hyunseok Kang, Ana Kiess, Wayne M. KochJeffrey N. Myers, Harry Quon, Jeremy D. Richmon, David Sidransky, Ralph P. Tufano, William H. Westra, Chetan Bettegowda, Luis A. Diaz, Nickolas Papadopoulos, Kenneth W. Kinzler, Bert Vogelstein, Nishant Agrawal

Research output: Contribution to journalArticle

152 Scopus citations

Abstract

To explore the potential of tumor-specific DNA as a biomarker for head and neck squamous cell carcinomas (HNSCC), we queried DNA from saliva or plasma of 93 HNSCC patients. We searched for somatic mutations or human papillomavirus genes, collectively referred to as tumor DNA. When both plasma and saliva were tested, tumor DNA was detected in 96% of 47 patients. The fractions of patients with detectable tumor DNA in earlyand late-stage disease were 100% (n = 10) and 95% (n = 37), respectively. When segregated by site, tumor DNA was detected in 100% (n = 15), 91% (n = 22), 100% (n = 7), and 100% (n = 3) of patients with tumors of the oral cavity, oropharynx, larynx, and hypopharynx, respectively. In saliva, tumor DNA was found in 100% of patients with oral cavity cancers and in 47 to 70% of patients with cancers of the other sites. In plasma, tumor DNA was found in 80% of patients with oral cavity cancers, and in 86 to 100% of patients with cancers of the other sites. Thus, saliva is preferentially enriched for tumor DNA from the oral cavity, whereas plasma is preferentially enriched for tumor DNA from the other sites. Tumor DNA in saliva was found postsurgically in three patients before clinical diagnosis of recurrence, but in none of the five patients without recurrence. Tumor DNA in the saliva and plasma appears to be a potentially valuable biomarker for detection of HNSCC.

Original languageEnglish (US)
Article number293ra104
JournalScience translational medicine
Volume7
Issue number293
DOIs
StatePublished - Jun 24 2015

ASJC Scopus subject areas

  • Medicine(all)

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    Wang, Y., Springer, S., Mulvey, C. L., Silliman, N., Schaefer, J., Sausen, M., James, N., Rettig, E. M., Guo, T., Pickering, C. R., Bishop, J. A., Chung, C. H., Califano, J. A., Eisele, D. W., Fakhry, C., Gourin, C. G., Ha, P. K., Kang, H., Kiess, A., ... Agrawal, N. (2015). Detection of somatic mutations and HPV in the saliva and plasma of patients with head and neck squamous cell carcinomas. Science translational medicine, 7(293), [293ra104]. https://doi.org/10.1126/scitranslmed.aaa8507