Methylation Analysis of Cancer of Unknown Primary Using Liquid Biopsy Approaches

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  • Misawa Kiyoshi
    Department of Otolaryngology/Head and Neck Surgery, Hamamatsu University School of Medicine
  • Yamada Satoshi
    Department of Otolaryngology/Head and Neck Surgery, Hamamatsu University School of Medicine
  • Takeuchi Kazutaka
    Department of Otolaryngology/Head and Neck Surgery, Hamamatsu University School of Medicine
  • Morita Kotaro
    Department of Otolaryngology/Head and Neck Surgery, Hamamatsu University School of Medicine
  • Takizawa Yoshinori
    Department of Otolaryngology/Head and Neck Surgery, Hamamatsu University School of Medicine

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Other Title
  • 原発不明がんに対するリキッドバイオプシーによるメチル化解析
  • ゲンパツ フメイ ガン ニ タイスル リキッドバイオプシー ニ ヨル メチルカ カイセキ

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<p>We examined whether it is possible to identify the primary site by ctDNA analysis by blood sampling (liquid biopsy) for cancer cases of unknown primary. Before initial treatment, liquid biopsy was performed with ctDNA extraction blood collection tubes. Methylation-ctDNA analysis using bisulfite-treated ctDNA as a template revealed that all three genes (CALML5, DNAJC5J, and LY6D) were methylated in cases that were positive for p16 immunostaining in neck lymph node lesions. Methylation-ctDNA analysis, therefore, has applications in determining primary site tumors, and could serve as an alternative method for unknown primary cancer screening. Liquid biopsy is the sampling and analysis of non-solid biological tissue often through rapid and non-invasive methods, which allows assessment in real-time of the temporal heterogeneity of cancer. Its current role is in identifying biomarkers that might contribute to therapeutic decision-making and tools to change the healthcare system.</p>

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