Investigating the feasibility of targeted next-generation sequencing to guide the treatment of head and neck squamous cell carcinoma

Sun Min Lim, Jong Gwon Choi, Sang Hee Cho, Eun Joo Kang, In Gyu Hwang, Tak Yun, Jae Woo Choi, Keun Wook Lee, Hyun Chang, Joo Hang Kim, Myung Ju Ahn, Jin Soo Kim, Keon Uk Park, Hyun Woo Lee, Ji Won Kim, Min Kyoung Kim, Yoon Ho Ko, Dongmin Jung, Hee Kyung Ahn, Ji Eun KimByoung Chul Cho, Bhumsuk Keam, Byung Ho Nam, Hwan Jung Yun, Sang Hoon Chun, Sangwoo Kim, Ji Hyung Hong, Hye Ryun Kim, Jung Hye Kwon

Research output: Contribution to journalArticlepeer-review

26 Citations (Scopus)


Purpose: Head and neck squamous cell carcinoma (HNSCC) is a deadly disease in which precision medicine needs to be incorporated. We aimed to implement next-generation sequencing (NGS) in determining actionable targets to guide appropriate molecular targeted therapy in HNSCC patients. Materials and Methods: Ninety-three tumors and matched blood samples underwent targeted sequencing of 244 genes using the Illumina HiSeq 2500 platform with an average depth of coverage of greater than 1,000. Clinicopathological data from patients were obtained from 17 centers in Korea, and were analyzed in correlation with NGS data. Results :Ninety-two of the 93 tumors were amenable to data analysis. TP53 was the most common mutation, occurring in 47 (51%) patients, followed by CDKN2A (n=23, 25%), CCND1 (n=22, 24%), and PIK3CA (n=19, 21%). The total mutational burden was similar between human papillomavirus (HPV)-negative vs. positive tumors, although TP53, CDKN2A and CCND1 gene alterations occurred more frequently in HPV-negative tumors. HPV-positive tumors were significantly associated with immune signature-related genes compared to HPV-negative tumors. Mutations of NOTCH1 (p=0.027), CDKN2A (p < 0.001), and TP53 (p=0.038) were significantly associated with poorer overall survival. FAT1 mutations were highly enriched in cisplatin responders, and potentially targetable alterations such as PIK3CA E545K and CDKN2A R58X were noted in 14 patients (15%). Conclusion: We found several targetable genetic alterations, and our findings suggest that implementation of precision medicine in HNSCC is feasible. The predictive value of each targetable alteration should be assessed in a future umbrella trial using matched molecular targeted agents.

Original languageEnglish
Pages (from-to)300-312
Number of pages13
JournalCancer Research and Treatment
Issue number1
Publication statusPublished - 2019 Jan 1

Bibliographical note

Publisher Copyright:
Copyright © 2019 by the Korean Cancer Association

All Science Journal Classification (ASJC) codes

  • Oncology
  • Cancer Research


Dive into the research topics of 'Investigating the feasibility of targeted next-generation sequencing to guide the treatment of head and neck squamous cell carcinoma'. Together they form a unique fingerprint.

Cite this