Kim Ki Tae, Kim Bo-Sung, Kim Ju Han
Seoul National University Biomedical Informatics (SNUBI), Division of Biomedical Informatics, Seoul National University College of Medicine, Seoul, Korea.
Department of Pathology, National Medical Center, Seoul, Korea.
Head Neck. 2016 Apr;38 Suppl 1(Suppl 1):E2021-9. doi: 10.1002/hed.24372. Epub 2016 Feb 15.
The purpose of this study was to characterize the mutation profile of FAT atypical cadherin 1 (FAT1) and determine the prognostic significance of FAT1 mutation for overall survival in patients with human papillomavirus (HPV)-negative head and neck squamous cell carcinoma (HNSCC).
Data were downloaded from The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) data portals and used as discovery and validation sets. FAT1 mutational status was determined in 234 and 37 patients with HPV-negative HNSCC, respectively, and overall survival analysis was performed. For comparison, HPV-positive patients were also analyzed for overall survival.
Most of the identified nonsynonymous somatic FAT1 mutations were loss-of-function mutations. FAT1 mutation was significantly associated with better overall survival in HPV-negative patients from both the TCGA cohort (p = .026) and the ICGC cohort (p = .047), but not in HPV-positive patients.
FAT1 mutational status is a strong independent prognostic factor in patients with HPV-negative HNSCC. © 2016 The Authors Head & Neck Published by Wiley Periodicals, Inc. Head Neck 38: E2021-E2029, 2016.
本研究旨在描述FAT非典型钙黏蛋白1（FAT1）的突变谱，并确定FAT1突变对人乳头瘤病毒（HPV）阴性头颈部鳞状细胞癌（HNSCC）患者总生存期的预后意义。
从癌症基因组图谱（TCGA）和国际癌症基因组联盟（ICGC）数据门户下载数据，并用作发现集和验证集。分别在234例和37例HPV阴性HNSCC患者中确定FAT1突变状态，并进行总生存期分析。为作比较，还对HPV阳性患者的总生存期进行了分析。
大多数已鉴定出的非同义体细胞FAT1突变是功能丧失性突变。在TCGA队列（p = 0.026）和ICGC队列（p = 0.047）的HPV阴性患者中，FAT1突变与更好的总生存期显著相关，但在HPV阳性患者中并非如此。
FAT1突变状态是HPV阴性HNSCC患者的一个强大独立预后因素。© 2016作者 头颈 由威利期刊公司出版。头颈38：E2021 - E2029，2016。
