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

Detection of somatic mutations and HPV in the saliva and plasma of patients with head and neck squamous cell carcinomas.
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DOI:
10.1126/scitranslmed.aaa8507
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发表时间:
2015-06-24
影响因子:
17.1
通讯作者:
Agrawal N
Agrawal N
中科院分区:
医学1区
文献类型:
--
作者:
Wang Y;Springer S;Mulvey CL;Silliman N;Schaefer J;Sausen M;James N;Rettig EM;Guo T;Pickering CR;Bishop JA;Chung CH;Califano JA;Eisele DW;Fakhry C;Gourin CG;Ha PK;Kang H;Kiess A;Koch WM;Myers JN;Quon H;Richmon JD;Sidransky D;Tufano RP;Westra WH;Bettegowda C;Diaz LA Jr;Papadopoulos N;Kinzler KW;Vogelstein B;Agrawal N

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为了探索肿瘤特异性DNA作为头颈部鳞状细胞癌(HNSCC)生物标志物的潜力,我们查询了93例HNSCC患者的唾液或血浆中的DNA。我们搜索体细胞突变或人类乳头瘤病毒基因,统称为肿瘤DNA。当同时检测血浆和唾液时,47名患者中有96%的人检测到了肿瘤DNA。早期和晚期肿瘤DNA阳性患者分别为100%(n=10)和95%(n=37)。按部位分类,口腔、口咽部、喉部和下咽部肿瘤DNA阳性率分别为100%(n=15)、91%(n=22)、100%(n=7)和100%(n=3)。口腔癌患者唾液中肿瘤DNA阳性率为100%,其他部位肿瘤DNA阳性率为47%~70%。口腔癌患者血浆中肿瘤DNA阳性率为80%,其他部位肿瘤DNA阳性率为86%~100%。因此,唾液优先浓缩来自口腔的肿瘤DNA,而血浆优先浓缩来自其他部位的肿瘤DNA。临床诊断复发前有3例患者术后唾液中发现肿瘤DNA,而5例未复发患者中均未发现肿瘤DNA。唾液和血浆中的肿瘤DNA似乎是检测HNSCC的一个潜在的有价值的生物标志物。
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.