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Head and Neck cancer
Clinical Impact of TP53 Mutations in Patients with Head and Neck Cancer Who Were Treated with Targeted Therapies or Immunotherapy
Eun Joo Kang, Shinwon Hwang, Yun-Gyoo Lee, Jong-Kwon Choi, Seong Hoon Shin, Yoon Hee Choi, Keun-Wook Lee, Hyun Woo Lee, Min Kyoung Kim, Seung Taek Lim, Hwan Jung Yun, Sang-Gon Park, Sangwoo Kim, Sung-Bae Kim, Hye Ryun Kim
Cancer Res Treat. 2025;57(3):709-719.   Published online December 23, 2024
DOI: https://doi.org/10.4143/crt.2024.836
AbstractAbstract PDFPubReaderePub
Purpose
Tumor suppressor p53 (TP53) mutations are common in head and neck squamous cell carcinoma (HNSCC). We evaluated their clinical impact in patients treated with targeted agents or immunotherapy in the KCSG HN15-16 TRIUMPH trial.
Materials and Methods
We analyzed clinical characteristics and outcomes of patients with TP53 mutations in the TRIUMPH trial, a multicenter, biomarker-driven umbrella trial in Korea. Patients were assigned to treatment groups based on genomic profiles: group 1, alpelisib; group 2, poziotinib; group 3, nintedanib; and group 4, abemaciclib. If there was no identifiable target, the patients were allocated to group 5 (durvalumab±tremelimumab).
Results
TP53 mutations were detected in 116/179 patients (64.8%), more frequently in human papillomavirus–negative and non-oropharyngeal cancers. Patients with TP53 mutations exhibited shorter progression-free survival than TP53 wild-type in all the patients (1.7 vs. 3.8 months, p=0.002) and in those who received targeted treatments (2.5 vs. 7.3 months, p=0.009). Furthermore, TP53 mutations were strongly associated with poor overall survival than TP53 wild-type in all the patients (11.1 vs. 28.8 months, p=0.005) and in group 5 (8.1 vs. 33.0 months, p=0.001).
Conclusion
TP53 mutations were associated with aggressive clinical characteristics and poor survival, particularly in HNSCC patients treated with immunotherapy.

Citations

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  • Early-Onset Oral Tongue Squamous Cell Carcinoma in the Absence of Traditional Risk Factors: A Case Report with Whole-Exome Sequencing Analysis
    Evgeniy Aleksiev, Darina Lyudmilova Kachakova-Yordanova, Vanyo Mitev, Martin Marinov Georgiev, Zornitsa Mihaylova
    Reports.2026; 9(2): 130.     CrossRef
  • Targeting transcriptional and post-transcriptional pathways in head and neck cancer
    Prabhat Kumar, Archita Dey, Rishabh Lakhera, Jayant Maini, Bhudev C. Das, Shilpi Gupta
    Biochimica et Biophysica Acta (BBA) - Reviews on Cancer.2026; 1881(4): 189647.     CrossRef
  • 6,380 View
  • 205 Download
  • 2 Web of Science
  • 2 Crossref
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Breast cancer
Prognostic Performance of the Next-Generation Sequencing-Based Multigene Assay in Early Breast Cancer Patients Treated According to the 21-Gene Assay Results
Eunhye Kang, Jong-Ho Cheun, Jeeyeon Lee, Jiwon Koh, Hyunwoo Lee, Ji-Young Park, Hee Jin Lee, Byeongju Kang, Woong Ki Park, Jeongeun Son, Bumjoon Kim, Woosung Chung, Wonshik Han, Han-Byoel Lee, Sae Byul Lee, Jai Min Ryu
Cancer Res Treat. 2025;57(3):749-759.   Published online December 23, 2024
DOI: https://doi.org/10.4143/crt.2024.1035
AbstractAbstract PDFSupplementary MaterialPubReaderePub
Purpose
Multigene assays guide treatment decisions in early-stage hormone receptor-positive breast cancer. OncoFREE, a next-generation sequencing assay using 179 genes, was developed for this purpose. This study aimed to evaluate the concordance between the Oncotype DX (ODX) recurrence score (RS) and the OncoFREE Decision Index (DI) and to compare their performance.
Materials and Methods
We retrospectively collected tumor blocks from patients who underwent ODX and treatment between 2012 and 2022 at four tertiary hospitals and performed OncoFREE on these samples. Distant metastasis-free survival (DMFS) was compared using RS and DI, with score cut-offs of 25 and 20, respectively.
Results
Among 838 patients, a strong correlation was observed between RS and DI (Pearson correlation coefficient 0.83). At a median follow-up of 54 months, patients with high DI had significantly worse DMFS compared to those with low-DI (log-rank p < 0.001; hazard ratio [HR], 5.73; 95% confidence interval [CI], 1.87 to 17.57; multivariable p=0.048; HR, 3.45; 95% CI, 1.01 to 11.76). In 513 patients aged ≤ 50 years, DMFS was significantly different as a function of DI (p=0.035; HR, 3.98; 95% CI, 1.00 to 15.89) but not RS (p=0.792). Among 376 patients aged ≤ 50 years who avoided chemotherapy based on low-RS, 64 with high DI had worse DMFS (p=0.015; HR, 5.91; 95% CI, 1.17 to 29.78).
Conclusion
OncoFREE showed strong concordance with ODX and effectively identified high-risk patients, particularly in younger individuals. It could be an affordable alternative to ODX for guiding treatment in hormone receptor-positive early breast cancer.

Citations

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  • Clinicopathologic characteristics and lymph node status in the NAUTILUS clinical trial:KBCSG-21
    Jai Min Ryu, Han-Byoel Lee, Wonshik Han, Il-Yong Chung, Se Hyun Ahn, Seeyoun Lee, Seho Park, Joon Jeong, Woosung Lim, Jeong Eon Lee, Eunhye Kang, Ji Hyun Chang, Kyung Hwan Shin, Jung Min Chang, Woo Kyung Moon, Eun-Kyu Kim
    European Journal of Surgical Oncology.2026; 52(4): 111458.     CrossRef
  • Prospective Single-Arm Study of Endocrine Therapies With Ovarian Function Suppression in Premenopausal Node-Positive Early Breast Cancer Patients With Low Genomic Risk (INTERSTELLAR Trial, KBCSG-25)
    Sung Gwe Ahn, Sung Hoon Sim, Taewoo Kang, Eun-Kyu Kim, Jeong Eon Lee, Hyeong-Gon Moon, Jee Hyun Ahn, Woosung Lim, Hyun Jo Youn, Hyun-Ah Kim, Chang Ik Yoon, Jisun Kim, Byeongju Kang, Min Ho Park, Su Hwan Kang, Lee Su Kim, Soong June Bae, Yoonwon Kook, Kwan
    Journal of Breast Cancer.2026; 29(1): 81.     CrossRef
  • 5,371 View
  • 275 Download
  • 2 Web of Science
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Landscape of Actionable Genetic Alterations Profiled from 1,071 Tumor Samples in Korean Cancer Patients
Se-Hoon Lee, Boram Lee, Joon Ho Shim, Kwang Woo Lee, Jae Won Yun, Sook-Young Kim, Tae-You Kim, Yeul Hong Kim, Young Hyeh Ko, Hyun Cheol Chung, Chang Sik Yu, Jeeyun Lee, Sun Young Rha, Tae Won Kim, Kyung Hae Jung, Seock-Ah Im, Hyeong-Gon Moon, Sukki Cho, Jin Hyoung Kang, Jihun Kim, Sang Kyum Kim, Han Suk Ryu, Sang Yun Ha, Jong Il Kim, Yeun-Jun Chung, Cheolmin Kim, Hyung-Lae Kim, Woong-Yang Park, Dong-Young Noh, Keunchil Park
Cancer Res Treat. 2019;51(1):211-222.   Published online April 23, 2018
DOI: https://doi.org/10.4143/crt.2018.132
AbstractAbstract PDFSupplementary MaterialPubReaderePub
Purpose
With the emergence of next-generation sequencing (NGS) technology, profiling a wide range of genomic alterations has become a possibility resulting in improved implementation of targeted cancer therapy. In Asian populations, the prevalence and spectrum of clinically actionable genetic alterations has not yet been determined because of a lack of studies examining high-throughput cancer genomic data.
Materials and Methods
To address this issue, 1,071 tumor samples were collected from five major cancer institutes in Korea and analyzed using targeted NGS at a centralized laboratory. Samples were either fresh frozen or formalin-fixed, paraffin embedded (FFPE) and the quality and yield of extracted genomic DNA was assessed. In order to estimate the effect of sample condition on the quality of sequencing results, tissue preparation method, specimen type (resected or biopsied) and tissue storage time were compared.
Results
We detected 7,360 non-synonymous point mutations, 1,164 small insertions and deletions, 3,173 copy number alterations, and 462 structural variants. Fifty-four percent of tumors had one or more clinically relevant genetic mutation. The distribution of actionable variants was variable among different genes. Fresh frozen tissues, surgically resected specimens, and recently obtained specimens generated superior sequencing results over FFPE tissues, biopsied specimens, and tissues with long storage duration.
Conclusion
In order to overcome, challenges involved in bringing NGS testing into routine clinical use, a centralized laboratory model was designed that could improve the NGS workflows, provide appropriate turnaround times and control costs with goal of enabling precision medicine.

Citations

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  • Micronodular Thymic Carcinoma With Lymphoid Hyperplasia: A Case Report and Next Generation Sequencing Analysis With its Benign Counterpart Multinodular Thymoma With Lymphoid Stroma
    Min Gyoung Pak, Seung Yeon Ha, Mee Sook Roh
    International Journal of Surgical Pathology.2026; 34(1): 207.     CrossRef
  • Clinical implementation of next-generation sequencing testing and genomically-matched therapy: a real-world data in a tertiary hospital
    Jin Won Kim, Hee Young Na, Sejoon Lee, Ji-Won Kim, Koung Jin Suh, Se Hyun Kim, Yu Jung Kim, Keun-Wook Lee, Jong Seok Lee, Jaihwan Kim, Jin-Hyeok Hwang, Kihwan Hwang, Chae-Yong Kim, Yong Beom Kim, Soomin Ahn, Kyu Sang Lee, Hyojin Kim, Hye Seung Lee, So Yeo
    Scientific Reports.2025;[Epub]     CrossRef
  • High clinical actionability of a pan-cancer tissue-based combined DNA and RNA next generation sequencing assay in a diverse Asian population
    Jing Yi Lee, Aya El Helali, Donavan Jia Jie Tan, Zi Yi Wan, Donald Poon, Jens Samol, Tsz Him So, Su Pin Choo, Ravindran Kanesvaran, Cheng-Vai Hui, Joseph Siu-Kie Au, Timothy Yip, Ross A. Soo, Michelle Pek, Ruifen Weng, Bin Tean Teh, Min-Han Tan, Jonathan
    npj Precision Oncology.2025;[Epub]     CrossRef
  • Clinical significance of concurrent TP53 mutations in KRAS-mutant invasive mucinous adenocarcinoma patients undergoing curative-intent lung surgery
    Dong Woog Yoon, Soohyun Hwang, Boram Lee, Yeong Jeong Jeon, Junghee Lee, Dong Wook Shin, Byeong-Ho Jeong, Seong Yong Park, Hong Kwan Kim, Yong Soo Choi, Jong Ho Cho
    Cancer Treatment and Research Communications.2025; 45: 101014.     CrossRef
  • Evaluation of false positive and false negative errors in targeted next generation sequencing
    Youngbeen Moon, Young-Ho Kim, Jong-Kwang Kim, Chung Hwan Hong, Eun-Kyung Kang, Hye Won Choi, Dong‑eun Lee, Tae-Min Kim, Seong Gu Heo, Namshik Han, Kyeong-Man Hong
    Genome Biology.2025;[Epub]     CrossRef
  • Real-World Data and Clinical Implications of Next-Generation Sequencing (NGS)-Based Analysis in Metastatic Breast Cancer Patients
    Fabio Canino, Antonio Tornincasa, Stefania Bettelli, Samantha Manfredini, Monica Barbolini, Luca Moscetti, Claudia Omarini, Angela Toss, Fabio Tamburrano, Giuseppina Antonelli, Federica Baglio, Lorenzo Belluzzi, Giulio Martinelli, Salvatore Natalizio, Orn
    International Journal of Molecular Sciences.2024; 25(5): 2490.     CrossRef
  • Exploring the DNA methylome of Korean patients with colorectal cancer consolidates the clinical implications of cancer-associated methylation markers
    Sejoon Lee, Kil-yong Lee, Ji-Hwan Park, Duck-Woo Kim, Heung-Kwon Oh, Seong-Taek Oh, Jongbum Jeon, Dongyoon Lee, Soobok Joe, Hoang Bao Khanh Chu, Jisun Kang, Jin-Young Lee, Sheehyun Cho, Hyeran Shim, Si-Cho Kim, Hong Seok Lee, Young-Joon Kim, Jin Ok Yang,
    BMB Reports.2024; 57(3): 161.     CrossRef
  • Establishing molecular pathology curriculum for pathology trainees and continued medical education: a collaborative work from the Molecular Pathology Study Group of the Korean Society of Pathologists
    Jiwon Koh, Ha Young Park, Jeong Mo Bae, Jun Kang, Uiju Cho, Seung Eun Lee, Haeyoun Kang, Min Eui Hong, Jae Kyung Won, Youn-La Choi, Wan-Seop Kim, Ahwon Lee
    Journal of Pathology and Translational Medicine.2023; 57(5): 265.     CrossRef
  • Quality and Quantity of Nucleic Acids Extracted from Formalin-Fixed Paraffin-Embedded Lymphoma Biopsies from Nigerian Archived Biopsy
    IC Uzoma, IA Taiwo, NI Ugwu, MA Durosinmi, O Akinloye
    Nigerian Journal of Clinical Practice.2023; 26(12): 1854.     CrossRef
  • Recommendations for the Use of Next-Generation Sequencing and the Molecular Tumor Board for Patients with Advanced Cancer: A Report from KSMO and KCSG Precision Medicine Networking Group
    Shinkyo Yoon, Miso Kim, Yong Sang Hong, Han Sang Kim, Seung Tae Kim, Jihun Kim, Hongseok Yun, Changhoon Yoo, Hee Kyung Ahn, Hyo Song Kim, In Hee Lee, In-Ho Kim, Inkeun Park, Jae Ho Jeong, Jaekyung Cheon, Jin Won Kim, Jina Yun, Sun Min Lim, Yongjun Cha, Se
    Cancer Research and Treatment.2022; 54(1): 1.     CrossRef
  • State legislative trends related to biomarker testing
    Gelareh Sadigh, Hilary Gee Goeckner, Ella A. Kazerooni, Bruce E. Johnson, Robert A. Smith, Devon V. Adams, Ruth C. Carlos
    Cancer.2022; 128(15): 2865.     CrossRef
  • Clinical Application of Next-Generation Sequencing in Patients With Breast Cancer: Real-World Data
    Koung Jin Suh, Se Hyun Kim, Yu Jung Kim, Heechul Shin, Eunyoung Kang, Eun-Kyu Kim, Sejoon Lee, Ji Won Woo, Hee Young Na, Soomin Ahn, Bum-Sup Jang, In Ah Kim, So Yeon Park, Jee Hyun Kim
    Journal of Breast Cancer.2022; 25(5): 366.     CrossRef
  • Small-Cell Lung Cancer: Is the Black Box Finally Opening Up?
    Birgitta I. Hiddinga, Klaas Kok
    Cancers.2021; 13(2): 236.     CrossRef
  • Real‐world utility of next‐generation sequencing for targeted gene analysis and its application to treatment in lung adenocarcinoma
    Jwa Hoon Kim, Shinkyo Yoon, Dae Ho Lee, Se Jin Jang, Sung‐Min Chun, Sang‐We Kim
    Cancer Medicine.2021; 10(10): 3197.     CrossRef
  • Actionability evaluation of biliary tract cancer by genome transcriptome analysis and Asian cancer knowledgebase
    Yuki Okawa, Nobutaka Ebata, Nayoung K.D. Kim, Masashi Fujita, Kazuhiro Maejima, Shota Sasagawa, Toru Nakamura, Woong-Yang Park, Satoshi Hirano, Hidewaki Nakagawa
    Oncotarget.2021; 12(15): 1540.     CrossRef
  • Development and Validation of Targeted Gene Sequencing Panel Based Companion Diagnostic for Korean Patients with Solid Tumors
    Byung-Joo Min, Woo Seung Lee, Myung-Eui Seo, Kye-Hwa Lee, Seung-Yong Jeong, Ja-Lok Ku, Yeul Hong Kim, Sang-Won Shin, Ju Han Kim
    Cancers.2021; 13(20): 5112.     CrossRef
  • Junction Location Identifier (JuLI)
    Hyun-Tae Shin, Nayoung K.D. Kim, Jae Won Yun, Boram Lee, Sungkyu Kyung, Ki-Wook Lee, Daeun Ryu, Jinho Kim, Joon Seol Bae, Donghyun Park, Yoon-La Choi, Se-Hoon Lee, Myung-Ju Ahn, Keunchil Park, Woong-Yang Park
    The Journal of Molecular Diagnostics.2020; 22(3): 304.     CrossRef
  • Simple prediction model for homologous recombination deficiency in breast cancers in adolescents and young adults
    Tomoko Watanabe, Takayuki Honda, Hirohiko Totsuka, Masayuki Yoshida, Maki Tanioka, Kouya Shiraishi, Yoko Shimada, Eri Arai, Mineko Ushiama, Kenji Tamura, Teruhiko Yoshida, Yae Kanai, Takashi Kohno
    Breast Cancer Research and Treatment.2020; 182(2): 491.     CrossRef
  • 18,765 View
  • 477 Download
  • 19 Web of Science
  • 18 Crossref
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