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Investigating the Feasibility of Targeted Next-Generation Sequencing to Guide the Treatment of Head and Neck Squamous Cell Carcinoma

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Author(s)
Sun Min LimSang Hee ChoIn Gyu HwangJae Woo ChoiHyun ChangMyung-Ju AhnKeon Uk ParkJi-Won KimYoon Ho KoHee Kyung AhnByoung Chul ChoByung-Ho NamSang Hoon ChunJi Hyung HongJung Hye KwonJong Gwon ChoiEun Joo KangTak YunKeun-Wook LeeJoo-Hang KimJin Soo KimHyun Woo LeeMin Kyoung KimDongmin JungJi Eun KimBhumsuk KeamHwan Jung YunSangwoo KimHye Ryun Kim
Keimyung Author(s)
Park, Keon Uk
Department
Dept. of Internal Medicine (내과학)
Journal Title
Cancer Research and Treatment
Issued Date
2019
Volume
51
Issue
1
Keyword
Squamous cell carcinoma of the head and neckNext-generation sequencingMolecular targeted therapyBiomarkersClinical trial
Abstract
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.
Keimyung Author(s)(Kor)
박건욱
Publisher
School of Medicine (의과대학)
Citation
Sun Min Lim et al. (2019). Investigating the Feasibility of Targeted Next-Generation Sequencing to Guide the Treatment of Head and Neck Squamous Cell Carcinoma. Cancer Research and Treatment, 51(1), 300–312. doi: 10.4143/crt.2018.012
Type
Article
ISSN
2005-9256
Source
https://www.e-crt.org/journal/view.php?doi=10.4143/crt.2018.012
DOI
10.4143/crt.2018.012
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/41886
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Internal Medicine (내과학)
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