Faden Daniel L, Arron Sarah T, Heaton Chase M, DeRisi Joseph, South Andrew P, Wang Steven J
Department of Otolaryngology-Head and Neck Surgery, University of California, 2380 Sutter St First Floor, San Francisco, CA, 94115, USA.
Department of Dermatology, University of California, San Francisco, CA, USA.
J Otolaryngol Head Neck Surg. 2016 Sep 17;45(1):47. doi: 10.1186/s40463-016-0160-4.
Little is known regarding the etiology and genomic underpinnings of Oral Tongue Squamous Cell Carcinoma (OTSCC) in patients who lack traditional risk factors, yet the incidence is increasing. In particular, the rate, and role, of TP53 mutations in this cohort has been heavily debated in the literature.
Tumor DNA from forty-three non-smokers with OTSCC underwent next generation sequencing of TP53.
Sixty percent of samples contained a TP53 mutation. The G > T transversion rate was 5.7 %. TP53 status did not differ by age.
OTSCC in non-smokers have TP53 mutation rates similar to other Head and Neck cancers yet these mutations do not appear related to carcinogen exposure based on the mutational spectrum and clinical history. The mechanisms driving tumorigenesis in this cohort, including mutations in TP53, remain elusive and further studies are needed.
对于缺乏传统风险因素的口腔舌鳞状细胞癌（OTSCC）患者的病因和基因组基础知之甚少，但该疾病的发病率正在上升。特别是，该队列中TP53突变的发生率和作用在文献中一直存在激烈争论。
对43例非吸烟OTSCC患者的肿瘤DNA进行TP53的二代测序。
60%的样本含有TP53突变。G>T颠换率为5.7%。TP53状态在不同年龄组中无差异。
非吸烟患者的OTSCC中TP53突变率与其他头颈癌相似，但基于突变谱和临床病史，这些突变似乎与致癌物暴露无关。驱动该队列肿瘤发生的机制，包括TP53突变，仍然不清楚，需要进一步研究。
