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

被引：351

作者：

Wang, Yuxuan ^{[1
,2
]}

Springer, Simeon ^{[1
,2
]}

Mulvey, Carolyn L. ^{[3
]}

Silliman, Natalie ^{[1
,2
]}

Schaefer, Joy ^{[1
,2
]}

Sausen, Mark ^{[1
,2
,4
]}

James, Nathan ^{[1
,2
]}

Rettig, Eleni M. ^{[3
]}

Guo, Theresa ^{[3
]}

Pickering, Curtis R. ^{[5
]}

Bishop, Justin A. ^{[6
]}

Chung, Christine H. ^{[7
]}

Califano, Joseph A. ^{[3
,8
]}

Eisele, David W. ^{[3
]}

Fakhry, Carole ^{[3
,8
]}

Gourin, Christine G. ^{[3
]}

Ha, Patrick K. ^{[3
,8
]}

Kang, Hyunseok ^{[7
]}

Kiess, Ana ^{[9
]}

Koch, Wayne M. ^{[3
]}

Myers, Jeffrey N. ^{[5
]}

Quon, Harry ^{[9
]}

Richmon, Jeremy D. ^{[3
]}

Sidransky, David ^{[3
]}

Tufano, Ralph P. ^{[3
]}

Westra, William H. ^{[6
]}

Bettegowda, Chetan ^{[1
,2
,10
]}

Diaz, Luis A., Jr. ^{[1
,2
]}

Papadopoulos, Nickolas ^{[1
,2
]}

Kinzler, Kenneth W. ^{[1
,2
]}

Vogelstein, Bert ^{[1
,2
]}

Agrawal, Nishant ^{[1
,2
,3
]}

机构：

[1] Johns Hopkins Univ, Sch Med, Howard Hughes Med Inst, Ludwig Ctr Canc Genet & Therapeut, Baltimore, MD 21287 USA

[2] Johns Hopkins Univ, Sch Med, Sidney Kimmel Comprehens Canc Ctr, Baltimore, MD 21287 USA

[3] Johns Hopkins Univ, Sch Med, Dept Otolaryngol Head & Neck Surg, Baltimore, MD 21287 USA

[4] Personal Genome Diagnost, Baltimore, MD 21224 USA

[5] Univ Texas MD Anderson Canc Ctr, Dept Head & Neck Surg, Houston, TX 77230 USA

[6] Johns Hopkins Univ, Sch Med, Dept Pathol, Baltimore, MD 21287 USA

[7] Johns Hopkins Univ, Sch Med, Sidney Kimmel Comprehens Canc Ctr, Dept Oncol, Baltimore, MD 21287 USA

[8] Greater Baltimore Med Ctr, Milton J Dance Head & Neck Ctr, Baltimore, MD 21204 USA

[9] Johns Hopkins Univ, Sch Med, Sidney Kimmel Comprehens Canc Ctr, Dept Radiat Oncol, Baltimore, MD 21287 USA

[10] Johns Hopkins Univ, Sch Med, Dept Neurosurg, Baltimore, MD 21287 USA

来源：

SCIENCE TRANSLATIONAL MEDICINE | 2015年 / 7卷 / 293期

关键词：

PROFESSIONAL DIAGNOSTIC DELAYS; CIRCULATING TUMOR DNA; HUMAN-PAPILLOMAVIRUS; INCIDENCE TRENDS; CANCER INCIDENCE; GENE-MUTATIONS; UNITED-STATES; ORAL-CAVITY; IDENTIFICATION; SURVEILLANCE;

D O I：

10.1126/scitranslmed.aaa8507

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

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.

引用

页数：7

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