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

Yuxuan Wang(Johns Hopkins University), Simeon Springer(Johns Hopkins University), Carolyn L. Mulvey(Johns Hopkins University), Natalie Silliman(Johns Hopkins University), Joy Schaefer(Johns Hopkins University), Mark Sausen(Human Genome Sciences (United States)), Nathan T. James(Johns Hopkins University), Eleni M. Rettig(Johns Hopkins University), Theresa Guo(Johns Hopkins University), Curtis R. Pickering(The University of Texas MD Anderson Cancer Center), Justin A. Bishop(Johns Hopkins University), Christine H. Chung(Johns Hopkins University), Joseph A. Califano(Greater Baltimore Medical Center), David W. Eisele(Johns Hopkins University), Carole Fakhry(Greater Baltimore Medical Center), Christine G. Gourin(Johns Hopkins University), Patrick K. Ha(Greater Baltimore Medical Center), Hyunseok Kang(Johns Hopkins University), Ana P. Kiess(Johns Hopkins University), Wayne M. Koch(Johns Hopkins University), Jeffrey N. Myers(The University of Texas MD Anderson Cancer Center), Harry Quon(Johns Hopkins University), Jeremy D. Richmon(Johns Hopkins University), David Sidransky(Johns Hopkins University), Ralph P. Tufano(Johns Hopkins University), William H. Westra(Johns Hopkins University), Chetan Bettegowda(Johns Hopkins University), Luis A. Díaz(Johns Hopkins University), Nickolas Papadopoulos(Johns Hopkins University), Kenneth W. Kinzler(Johns Hopkins University), Bert Vogelstein(Johns Hopkins University), Nishant Agrawal(Johns Hopkins University)
Science Translational Medicine
June 24, 2015
10.1126/scitranslmed.aaa8507
Cited by 499Open Access
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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 early- and 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.

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