Cancer Cytopathology最新文献_第6页

Diagnostic utility of anchored multiplex polymerase chain reaction-based fusion assay on sacrificed cytology slides. 锚定多重聚合酶链反应为基础的融合试验对牺牲细胞学切片的诊断效用。

IF 2.9 3区医学

Cancer Cytopathology Pub Date : 2026-06-01 DOI: 10.1002/cncy.70105

Charlotte I Wang, M Lisa Zhang, Emilio Madrigal, William C Faquin, Ivan Chebib

{"title":"Diagnostic utility of anchored multiplex polymerase chain reaction-based fusion assay on sacrificed cytology slides.","authors":"Charlotte I Wang, M Lisa Zhang, Emilio Madrigal, William C Faquin, Ivan Chebib","doi":"10.1002/cncy.70105","DOIUrl":"10.1002/cncy.70105","url":null,"abstract":"Background: Gene fusion testing, essential for the diagnosis and classification of many salivary gland and soft tissue neoplasms, is typically performed on formalin-fixed paraffin-embedded material, which may be limited or unavailable in cytology specimens. Although cytology smears have been validated for single-gene and DNA-based assays, evidence supporting routine diagnostic use of RNA-based next-generation sequencing fusion testing on smears remains limited.Methods: The authors evaluated the clinical utility of a clinically validated anchored multiplex polymerase chain reaction (adenosine monophosphate)-based RNA fusion assay performed on digitized, scraped, and sacrificed cytology smears. Alcohol-fixed Papanicolaou-stained and air-dried modified Giemsa-stained smears meeting predefined cellularity thresholds were digitally archived, manually scraped, and processed for RNA extraction. Fusion testing targeted solid tumor-associated genes, and sequencing was performed on an Illumina platform.Results: Of 8706 fusion assays performed during the study period, 807 (9.3%) were applied to cytology specimens, including 14 cases (1.7%) using sacrificed direct smears. Adequate nucleic acid was obtained in all cases. Gene fusions were detected in 64% (9/14), including MYB::NFIB, ACTB::PLAG1, NCALD::PLAG1, CRTC1::MAML2, COL1A1::PDGFB, COL1A2::USP6, and FGFR1::NOL4. Fusion results enabled definitive diagnosis for adenoid cystic carcinoma, mucoepidermoid carcinoma, pleomorphic adenoma, nodular fasciitis, and dermatofibrosarcoma protuberans.Conclusions: Adenosine monophosphate-based RNA fusion testing on sacrificed cytology smears is feasible, reliable, and diagnostically impactful, expanding the role of cytology specimens in definitive tumor classification.","PeriodicalId":9410,"journal":{"name":"Cancer Cytopathology","volume":"134 6","pages":"e70105"},"PeriodicalIF":2.9,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147926501","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}