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


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.

SUBMITTER: Wang Y 

PROVIDER: S-EPMC4587492 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature

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

Wang Yuxuan Y   Springer Simeon S   Mulvey Carolyn L CL   Silliman Natalie N   Schaefer Joy J   Sausen Mark M   James Nathan N   Rettig Eleni M EM   Guo Theresa T   Pickering Curtis R CR   Bishop Justin A JA   Chung Christine H CH   Califano Joseph A JA   Eisele David W DW   Fakhry Carole C   Gourin Christine G CG   Ha Patrick K PK   Kang Hyunseok H   Kiess Ana A   Koch Wayne M WM   Myers Jeffrey N JN   Quon Harry H   Richmon Jeremy D JD   Sidransky David D   Tufano Ralph P RP   Westra William H WH   Bettegowda Chetan C   Diaz Luis A LA   Papadopoulos Nickolas N   Kinzler Kenneth W KW   Vogelstein Bert B   Agrawal Nishant N  

Science translational medicine 20150601 293


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.  ...[more]

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