Guidelines for Handling of Cytological Specimens in Cancer Genomic Medicine

Pathobiology. 2023;90(5):289-311. doi: 10.1159/000528346. Epub 2023 Feb 8.


Rapid advances are being made in cancer drug therapy. Since molecularly targeted therapy has been introduced, personalized medicine is being practiced, pathological tissue from malignant tumors obtained during routine practice is frequently used for genomic testing. Whereas cytological specimens fixed mainly in alcohol are considered to be more advantageous in terms of preservation of the nucleic acid quality and quantity. This article is aimed to share the information for the proper handling of cytological specimens in practice for genomic medicine based on the findings established in "Guidelines for Handling of Cytological Specimens in Cancer Genomic Medicine (in Japanese)" published by the Japanese Society of Clinical Cytology in 2021. The three-part practical guidelines are based on empirical data analyses; Part 1 describes general remarks on the use of cytological specimens in cancer genomic medicine, then Part 2 describes proper handling of cytological specimens, and Part 3 describes the empirical data related to handling of cytological specimens. The guidelines indicated proper handling of specimens in each fixation, preparation, and evaluation.

Keywords: Cancer gene testing; Cancer genomic medicine; Cytology; Guideline; Sample processing.

Publication types

  • Review

MeSH terms

  • Cytodiagnosis
  • Genomic Medicine*
  • Humans
  • Neoplasms* / genetics
  • Neoplasms* / pathology
  • Specimen Handling

Grants and funding

This work was supported by the special grant from the JSCC in 2019.