{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T21:09:25Z","timestamp":1775768965522,"version":"3.50.1"},"reference-count":43,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,10,11]],"date-time":"2022-10-11T00:00:00Z","timestamp":1665446400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["acsjournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cancer Cytopathology"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Genomic profiling in lung cancer is essential for precision medicine. Cytological specimens provide an alternative to formalin\u2010fixed paraffin\u2010embedded (FFPE) samples for comprehensive genomic analysis. However, this approach remains challenging when a limited number of tumor cells are available. We applied whole genome amplification (WGA) to cytology specimens to overcome this limitation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Using a lung cancer panel targeting 58 genes, we performed next\u2010generation sequencing of whole genome\u2010amplified DNA extracted from cytological specimens containing 10\u201320 tumor cells (cyto\u2010WGA) and DNA from corresponding FFPE tumor tissue. We compared sequencing data from cyto\u2010WGA and FFPE samples to examine the detection accuracy of copy number variations and oncogenic and drug\u2010matched variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The DNA quality and quantity from cyto\u2010WGA were higher than those from FFPE samples (<jats:italic>p<\/jats:italic>\u00a0&lt;\u00a0.0005 and <jats:italic>p<\/jats:italic>\u00a0&lt;\u00a0.05, respectively). Sequencing metrics of cyto\u2010WGA and FFPE tissues showed no difference in the number of mapped reads and mean coverage depth, but there were significant differences in the on\u2010target rate (<jats:italic>p<\/jats:italic>\u00a0&lt;\u00a0.05) and uniformity (<jats:italic>p<\/jats:italic>\u00a0&lt;\u00a0.0005). Copy number variations in cyto\u2010WGA samples (<jats:italic>n<\/jats:italic>\u00a0=\u00a0211) were higher than in FFPE samples (<jats:italic>n<\/jats:italic>\u00a0=\u00a09) (<jats:italic>p<\/jats:italic>\u00a0&lt;\u00a0.0001). Fourty nine oncogenic variants were detected in cyto\u2010WGA and 39 in FFPE. Of these variants, 34 (63%) were present in both samples. In addition, all 16 drug\u2010matched variants were detected in FFPE and cyto\u2010WGA samples with 100% concordance.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Cyto\u2010WGA can be a feasible and alternative method to detect oncogenic and drug\u2010matched variants.<\/jats:p><\/jats:sec>","DOI":"10.1002\/cncy.22653","type":"journal-article","created":{"date-parts":[[2022,10,11]],"date-time":"2022-10-11T12:07:45Z","timestamp":1665490065000},"page":"58-68","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Deep targeted sequencing of cytological tumor cells using whole genome amplification"],"prefix":"10.1002","volume":"131","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4223-0528","authenticated-orcid":false,"given":"Kenji","family":"Amemiya","sequence":"first","affiliation":[{"name":"Genome Analysis Center Yamanashi Central Hospital  Kofu Yamanashi Japan"},{"name":"Division of 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