Tillman Brittny N, Yanik Megan, Birkeland Andrew C, Liu Chia-Jen, Hovelson Daniel H, Cani Andi K, Palanisamy Nallasivam, Carskadon Shannon, Carey Thomas E, Bradford Carol R, Tomlins Scott A, McHugh Jonathan B, Spector Matthew E, Brenner J Chad
Department of Otolaryngology-Head and Neck Surgery, University of Michigan Medical School, Ann Arbor, Michigan.
Department of Pathology, University of Michigan Medical School, Ann Arbor, Michigan.
Head Neck. 2016 Apr;38 Suppl 1(Suppl 1):E1646-52. doi: 10.1002/hed.24292. Epub 2016 Feb 5.
Targeted sequencing of patients with epidemiologically low-risk (ELR) head and neck squamous cell carcinoma (HNSCC) could help identify novel drivers or lost suppressors leading to precision medicine protocols and improved survival rates.
A patient with ELR-HNSCC was selected for targeted sequencing. We then assessed next generation sequencing cohorts from the Oncomine Powertool Database, which contains pan-cancer data from The Cancer Genome Atlas (TCGA).
Targeted sequencing revealed fibroblast growth factor receptor-1 (FGFR1) amplifications as a putative driver of the patient's tumor. Patients with HNSCC from TCGA data demonstrated fibroblast growth factor (FGF) family mutations, rearrangements, or amplifications in over 35% of HNSCC cases, with a statistically significant higher frequency in African American populations. FGF alterations were unique from activating phosphatidylinositol 3-kinase (PIK3CA) mutations.
Together, these data suggest that FGF signaling may be critical for a subset of patients with HNSCC independent of other known pathways and provides rationale for leveraging patients with ELR-HNSCC to define molecular subsets of high-risk HNSCC. © 2016 Wiley Periodicals, Inc. Head Neck 38: E1646-E1652, 2016.
对具有流行病学低风险(ELR)的头颈部鳞状细胞癌(HNSCC)患者进行靶向测序,有助于识别新的驱动因素或缺失的抑制因子,从而制定精准医疗方案并提高生存率。
选择一名ELR-HNSCC患者进行靶向测序。然后,我们评估了来自Oncomine Powertool数据库的下一代测序队列,该数据库包含来自癌症基因组图谱(TCGA)的泛癌数据。
靶向测序显示,成纤维细胞生长因子受体-1(FGFR1)扩增是该患者肿瘤的一个假定驱动因素。来自TCGA数据的HNSCC患者中,超过35%的病例存在成纤维细胞生长因子(FGF)家族突变、重排或扩增,在非裔美国人中频率具有统计学意义的更高。FGF改变与激活磷脂酰肌醇3激酶(PIK3CA)突变不同。
总之,这些数据表明,FGF信号传导可能对一部分HNSCC患者至关重要(独立于其他已知途径),并为利用ELR-HNSCC患者来定义高危HNSCC的分子亚群提供了理论依据。© 2016威利期刊公司。《头颈》38:E1646-E1652,2016年。