持续性/复发性喉鳞状细胞癌的突变谱
Mutational profiles of persistent/recurrent laryngeal squamous cell carcinoma.
作者信息
Smith Joshua D, Birkeland Andrew C, Rosko Andrew J, Hoesli Rebecca C, Foltin Susan K, Swiecicki Paul, Mierzwa Michelle, Chinn Steven B, Shuman Andrew G, Malloy Kelly M, Casper Keith A, McLean Scott A, Wolf Gregory T, Bradford Carol R, Prince Mark E, Brenner John Chad, Spector Matthew E
机构信息
Department of Otolaryngology - Head and Neck Surgery, University of Michigan Medical School, Ann Arbor, Michigan.
Rogel Comprehensive Cancer Center, University of Michigan Medical School, Ann Arbor, Michigan.
出版信息
Head Neck. 2019 Feb;41(2):423-428. doi: 10.1002/hed.25444. Epub 2018 Dec 12.
BACKGROUND
We sought to describe targeted DNA sequencing data of persistent/recurrent laryngeal squamous cell carcinoma (LSCC) and to compare gene-specific alteration frequencies with that of primary, untreated LSCC specimens from The Cancer Genome Atlas (TCGA).
METHODS
The tumors of 21 patients with persistent/recurrent LSCC were subjected to targeted DNA sequencing using the Ion AmpliSeq Comprehensive Cancer Panel. Gene-specific alteration frequencies were compared (Chi-Square test) to primary, untreated LSCC sequencing data from TCGA using the cBioPortal platform.
RESULTS
Persistent/recurrent LSCC was characterized by a high rate of inactivating alterations in TP53 (38.1%) and CDKN2A (33%), amplification events of CCND1 (19.1%), and ERBB2 (14.3%), and NOTCH1 (19.1%) mutations. Comparison of primary vs persistent/recurrent LSCC revealed significant differences in alteration frequencies of eight critical genes: BAP1, CDKN2A, DCUN1D1, MSH2, MTOR, PIK3CA, TET2, and TP53.
CONCLUSIONS
Our results provide preliminary support for a distinct mutational profile of persistent/recurrent LSCC that requires validation in larger cohorts.
背景
我们试图描述持续性/复发性喉鳞状细胞癌（LSCC）的靶向DNA测序数据，并将基因特异性改变频率与来自癌症基因组图谱（TCGA）的原发性、未经治疗的LSCC标本进行比较。
方法
对21例持续性/复发性LSCC患者的肿瘤使用Ion AmpliSeq综合癌症检测板进行靶向DNA测序。使用cBioPortal平台将基因特异性改变频率与来自TCGA的原发性、未经治疗的LSCC测序数据进行比较（卡方检验）。
结果
持续性/复发性LSCC的特征在于TP53（38.1%）和CDKN2A（33%）的失活改变率高，CCND1（19.1%）、ERBB2（14.3%）的扩增事件以及NOTCH1（19.1%）突变。原发性与持续性/复发性LSCC的比较显示，八个关键基因（BAP1、CDKN2A、DCUN1D1、MSH2、MTOR、PIK3CA、TET2和TP53）的改变频率存在显著差异。
结论
我们的结果为持续性/复发性LSCC独特的突变谱提供了初步支持，这需要在更大的队列中进行验证。
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