Clinical practice guidelines for molecular tumor markers, 2nd edition review part 1

Int J Clin Oncol. 2024 Jan;29(1):1-19. doi: 10.1007/s10147-023-02430-x. Epub 2023 Nov 29.


With advances in gene and protein analysis technologies, many target molecules that may be useful in cancer diagnosis have been reported. Therefore, the "Tumor Marker Study Group" was established in 1981 with the aim of "discovering clinically" useful molecules. Later, the name was changed to "Japanese Society for Molecular Tumor Marker Research" in 2000 in response to the remarkable progress in gene-related research. Currently, the world of cancer treatment is shifting from the era of representative tumor markers of each cancer type used for tumor diagnosis and treatment evaluation to the study of companion markers for molecular-targeted therapeutics that target cancer cells. Therefore, the first edition of the Molecular Tumor Marker Guidelines, which summarizes tumor markers and companion markers in each cancer type, was published in 2016. After publication of the first edition, the gene panel testing using next-generation sequencing became available in Japan in June 2019 for insured patients. In addition, immune checkpoint inhibitors have been indicated for a wide range of cancer types. Therefore, the 2nd edition of the Molecular Tumor Marker Guidelines was published in September 2021 to address the need to revise the guidelines. Here, we present an English version of the review (Part 1) of the Molecular Tumor Marker Guidelines, Second Edition.

Keywords: Gene panel testing; Immune checkpoints; NTRK fusion genes; RAS/RAF; p53.

MeSH terms

  • Biomarkers, Tumor* / genetics
  • Humans
  • Japan
  • Neoplasms* / diagnosis
  • Neoplasms* / drug therapy
  • Neoplasms* / genetics


  • Biomarkers, Tumor