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Precision Medicine in Head and Neck Cancer

두경부암에서 정밀의료

  • Hye-sung Park (Division of Medical Oncology, Department of Internal Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea) ;
  • Jin-Hyoung Kang (Division of Medical Oncology, Department of Internal Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea)
  • 박혜성 (가톨릭대학교 서울성모병원 종양내과) ;
  • 강진형 (가톨릭대학교 서울성모병원 종양내과)
  • Received : 2023.05.15
  • Accepted : 2023.05.24
  • Published : 2023.05.30

Abstract

Technological advancement in human genome analysis and ICT (information & communication technologies) brought 'precision medicine' into our clinical practice. Precision medicine is a novel medical approach that provides personalized treatments tailored to each individual by precisely segmenting patient populations, based on robust data including a person's genetic information, disease information, lifestyle information, etc. Precision medicine has a potential to be applied to treating a range of tumors, in addition to non-small cell lung cancer, in which precision oncology has been actively practiced. In this article, we are reviewing precision medicine in head and neck cancer (HNC) with focus on tumor agnostic biomarkers and treatments such as NTRK, MSI-H/dMMR, TMB-H and BRAF V600E, all of which were recently approved by U.S. Food and Drug Administration (FDA).

Keywords

References

  1. The Human Genome Project Factsheet. National Human Genome Research Institute.[cited 2023 May 19] Available from: URL: https://www.genome.gov/about-genomics/educational-resources/fact-sheets/human-genome-project.
  2. The Precision Medicine Initiative. [cited 2023 May 19] Available from: URL: https://obamawhitehouse.archives.gov/precision-med icine.
  3. Brainard J, Farver C. The diagnosis of non-small cell lung cancer in the molecular era. Modern Pathology. 2019;32:S16-S26. https://doi.org/10.1038/s41379-018-0156-x
  4. Beatrice A, Valentina M, Federico B, Roberto DA, Massimo D, Khawaja Husnain H. Precision Medicine in Lung Cancer: Challenges and Opportunities in Diagnostic and Therapeutic Purposes. In: Henry SP, editor. Lung Cancer. Rijeka: IntechOpen; 2020. p.7.
  5. Wang M, Herbst RS, Boshoff C. Toward personalized treatment approaches for non-small-cell lung cancer. Nat Med. 2021;27:1345-1356. https://doi.org/10.1038/s41591-021-01450-2
  6. Subbiah V, Wirth LJ, Kurzrock R, Pazdur R, Beaver JA, Singh H, et al. Accelerated approvals hit the target in precision oncology. Nat Med. 2022;28:1976-1979. https://doi.org/10.1038/s41591-022-01984-z
  7. Rudin CM, Brambilla E, Faivre-Finn C, Sage J. Small-cell lung cancer. Nat Rev Dis Primers. 2021;7:3.
  8. Sung H, Ferlay J, Siegel RL, Laversanne M, Soerjomataram I, Jemal A, et al. Global Cancer Statistics 2020: GLOBOCAN Estimates of Incidence and Mortality Worldwide for 36 Cancers in 185 Countries. CA Cancer J Clin. 2021;71:209-249. https://doi.org/10.3322/caac.21660
  9. Kang MJ, Jung KW, Bang SH, Choi SH, Park EH, Yun EH, et al. Cancer Statistics in Korea: Incidence, Mortality, Survival, and Prevalence in 2020. Cancer Res Treat. 2023;55:385-399. https://doi.org/10.4143/crt.2023.447
  10. Chow, QML. Head and Neck Cancer. N Engl J Med. 2020;382:60-72. https://doi.org/10.1056/NEJMra1715715
  11. Miserocchi G, Spadazzi C, Calpona S, De Rosa F, Usai A, De Vita A, et al. Precision Medicine in Head and Neck Cancers: Genomic and Preclinical Approaches. J Pers Med. 2022;12:854.
  12. Chow, QML. Head and Neck Cancer. N Engl J Med. 2020;382:60-72. https://doi.org/10.1056/NEJMra1715715
  13. Ang KK, Harris J, Wheeler R, Weber R, Rosenthal DI, Nguyen-Tan PF, et al. Human papillomavirus and survival of patients with oropharyngeal cancer. N Engl J Med. 2010;363:24-35. https://doi.org/10.1056/NEJMoa0912217
  14. Johnson DE, Burtness B, Leemans CR, Lui VWY, Bauman JE, Grandis JR. Head and neck squamous cell carcinoma. Nat Rev Dis Primers. 2020;6:92.
  15. Chen YP, Chan ATC, Le QT, Blanchard P, Sun Y, Ma J. Nasopharyngeal carcinoma. Lancet. 2019;394:64-80. https://doi.org/10.1016/S0140-6736(19)30956-0
  16. Young A, Okuyemi OT. Malignant Salivary Gland Tumors. [Updated 2023 Jan 12]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK563022/
  17. Cramer JD, Burtness B, Ferris RL. Immunotherapy for head and neck cancer: Recent advances and future directions. Oral Oncol. 2019;99:104460.
  18. Moskovitz J, Moy J, Ferris RL. Immunotherapy for Head and Neck Squamous Cell Carcinoma. Curr Oncol Rep. 2018;20:22.
  19. Burtness B, Harrington KJ, Greil R, Soulieres D, Tahara M, de Castro G Jr, et al. Pembrolizumab alone or with chemotherapy versus cetuximab with chemotherapy for recurrent or metastatic squamous cell carcinoma of the head and neck (KEYNOTE-048): A randomised, open-label, phase 3 study. Lancet. 2019;394:1915-1928. https://doi.org/10.1016/S0140-6736(19)32591-7
  20. The Cancer Genome Atlas Network. Comprehensive genomic characterization of head and neck squamous cell carcinomas. Nature. 2015;517:576-582. https://doi.org/10.1038/nature14129
  21. Cerami E, Gao J, Dogrusoz U, Gross BE, Sumer SO, Aksoy BA, et al. The cBio cancer genomics portal: An open platform for exploring multidimensional cancer genomics data. Cancer Discov. 2012;2:401-404. https://doi.org/10.1158/2159-8290.CD-12-0095
  22. Galot R, Le Tourneau C, Guigay J, Licitra L, Tinhofer I, Kong A, et al. Personalized biomarker-based treatment strategy for patients with squamous cell carcinoma of the head and neck: EORTC position and approach. Ann Oncol. 2018;29:2313-2327. https://doi.org/10.1093/annonc/mdy452
  23. Clouthier DL, Lien SC, Yang SYC, Nguyen LT, Manem VSK, Gray D, et al. An interim report on the investigator-initiated phase 2 study of pembrolizumab immunological response evaluation (INSPIRE). J Immunother Cancer. 2019;7:72.
  24. Woodhouse R, Li M, Hughes J, Delfosse D, Skoletsky J, Ma P, et al. Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin. PLoS ONE. 2020;15:e0237802.
  25. Choudhury AD, Werner L, Francini E, Wei XX, Ha G, Freeman SS, et al. Tumor fraction in cell-free DNA as a biomarker in prostate cancer. JCI Insight. 2018;3:e122109.
  26. Vultur A, Villanueva J, Herlyn M. Targeting BRAF in advanced melanoma: A first step toward manageable disease. Clin Cancer Res. 2011;17:1658-1663. https://doi.org/10.1158/1078-0432.CCR-10-0174
  27. US FDA. Approval. [cited 2023 May 21] Available from: URL: https://www.fda.gov/drugs/resources-information-approved-dru gs/fda-approves-dabrafenib-plus-trametinib-anaplastic-thyroid -cancer-braf-v600e-mutation.
  28. Guthrie, G. Progress in treating rare cancers. [cited 2023 May 21] Available from: URL: https://www.cancer.net/blog/2019-01/pro gress-treating-rare-cancers-2019-advance-year.
  29. Marcus L, Lemery SJ, Keegan P, Pazdur R. FDA Approval Summary: Pembrolizumab for the Treatment of Microsatellite Instability-High Solid Tumors. Clin Cancer Res. 2019;25:3753-3758. https://doi.org/10.1158/1078-0432.CCR-18-4070
  30. Maio M, Ascierto PA, Manzyuk L, Motola-Kuba D, Penel N, Cassier PA, et al. Pembrolizumab in microsatellite instability high or mismatch repair deficient cancers: updated analysis from the phase II KEYNOTE-158 study. Ann Oncol. 2022;33:929-938. https://doi.org/10.1016/j.annonc.2022.05.519
  31. Marcus L, Fashoyin-Aje LA, Donoghue M, Yuan M, Rodriguez L, Gallagher PS, et al. FDA Approval Summary: Pembrolizumab for the Treatment of Tumor Mutational Burden-High Solid Tumors. Clin Cancer Res. 2021;27:4685-4689. https://doi.org/10.1158/1078-0432.CCR-21-0327
  32. Mosele F, Remon J, Mateo J, Westphalen CB, Barlesi F, Lolkema MP, et al. Recommendations for the use of next-generation sequencing (NGS) for patients with metastatic cancers: a report from the ESMO Precision Medicine Working Group. Ann Oncol. 2020;31:1491-1505. https://doi.org/10.1016/j.annonc.2020.07.014
  33. Amatu A, Sartore-Bianchi A, Siena S. NTRKgene fusions as novel targets of cancer therapy across multiple tumour types. ESMO Open. 2016;1:e000023.
  34. Ricciuti B, Brambilla M, Metro G, Baglivo S, Matocci R, Pirro M, et al. Targeting NTRK fusion in non-small cell lung cancer: rationale and clinical evidence. Med Oncol. 2017;34:105.
  35. Marchio C, Scaltriti M, Ladanyi M, Iafrate AJ, Bibeau F, Dietel M, et al. ESMO recommendations on the standard methods to detect NTRK fusions in daily practice and clinical research. Ann Oncol. 2019;30:1417-1427. https://doi.org/10.1093/annonc/mdz204
  36. Vaishnavi A, Le AT, Doebele RC. TRKing down an old oncogene in a new era of targeted therapy. Cancer Discov. 2015;5:25-34. https://doi.org/10.1158/2159-8290.CD-14-0765
  37. Zehir A, Benayed R, Shah RH, Syed A, Middha S, Kim HR, et al. Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients. Nat Med. 2017;23:703-713. https://doi.org/10.1038/nm.4333
  38. Okamura R, Boichard A, Kato S, Sicklick JK, Bazhenova L, Kurzrock R. Analysis of NTRKAlterations in Pan-Cancer Adult and Pediatric Malignancies: Implications for NTRK-Targeted Therapeutics. JCO Precis Oncol. 2018;2018:PO.18.00183.
  39. Ali A, Goffin JR, Arnold A, Ellis PM. Survival of patients with non-small-cell lung cancer after a diagnosis of brain metastases. Curr Oncol. 2013;20:e300-306. https://doi.org/10.3747/co.20.1481
  40. Roughley A, Damonte E, Taylor-Stokes G, Rider A, Munk VC. Impact of Brain Metastases on Quality of Life and Estimated Life Expectancy in Patients with Advanced Non-Small Cell Lung Cancer. Value Health. 2014;17:A650.
  41. Remon J, Besse B. Brain Metastases in Oncogene-Addicted Non-Small Cell Lung Cancer Patients: Incidence and Treatment. Front Oncol. 2018;8:88.
  42. Fischer H, Ullah M, de la Cruz CC, Hunsaker T, Senn C, Wirz T, et al. Entrectinib, a TRK/ROS1 inhibitor with anti-CNS tumor activity: differentiation from other inhibitors in its class due to weak interaction with P-glycoprotein. Neuro Oncol. 2020;22:819-829. https://doi.org/10.1093/neuonc/noaa052
  43. US FDA. Approval. [cited 2023 May 21] Available from: URL: https://www.fda.gov/drugs/fda-approves-larotrectinib-solid-tum ors-ntrk-gene-fusions-0.
  44. US FDA. Approval. [cited 2023 May 21] Available from: URL: https://www.fda.gov/drugs/resources-information-approved-drugs/ fda-approves-entrectinib-ntrk-solid-tumors-and-ros-1-nsclc.
  45. Krzakowski MJ, Lu S, Cousin S, Smit EF, Springfeld C, Goto K, et al. Updated analysis of the efficacy and safety of entrectinib in patients with NTRK fusion-positive solid tumors. Presented at ASCO 2022 [Poster 91].
  46. Bochtler T, Kramer A. Does Cancer of Unknown Primary (CUP) Truly Exist as a Distinct Cancer Entity? Front Oncol. 2019;9:402.
  47. Cobain EF, Wu YM, Vats P, Chugh R, Worden F, Smith DC, et al. Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors. JAMA Oncol. 2021;7:525-533. https://doi.org/10.1001/jamaoncol.2020.7987
  48. Adashek JJ, Kato S, Gumas S, Lee S, Okamura R, Sicklick J, et al. 86MO - Personalized molecularly matched therapies for carcinomas of unknown primary is associated with improved outcomes. Presented at ESMO 2020.
  49. Conway AM, Mitchell C, Kilgour E, Brady G, Dive C, Cook N. Molecular characterisation and liquid biomarkers in Carcinoma of Unknown Primary (CUP): taking the 'U' out of 'CUP'. Br J Cancer. 2019;120:141-153. https://doi.org/10.1038/s41416-018-0332-2
  50. FDA Guidance for Industry. Master Protocols: Efficient Clinical Trial Design Strategies to Expedite Development of Oncology Drugs and Biologics. [cited 2023 May 21] Available from: URL: https://www.fda.gov/media/120721/download.
  51. Ho AL, Brana I, Haddad R, Bauman J, Bible K, Oosting S, et al. Tipifarnib in Head and Neck Squamous Cell Carcinoma with HRAS Mutations. J Clin Oncol. 2021;39:1856-1864. https://doi.org/10.1200/JCO.20.02903