Next-generation sequencing analysis of endometrial screening liquid-based cytology specimens: a comparative study to tissue specimens

BMC Medical Genomics

Ippei Sakamoto¹  Sachio Nohara¹  Hiroaki Kobayashi²  Masaki Kamio²  Shinichi Togami²  Shintaro Yanazume²  Seiya Yokoyama³  Tsubasa Hiraki³  Toshiaki Akahane³  Ikumi Kitazono³  Akihide Tanimoto³  Shinsuke Suzuki⁴  Shinichi Ueno⁴ 

[1] Department of Biomedical Informatics, Mitsubishi Space Software;Department of Obstetrics and Gynecology, Kagoshima University Graduate School of Medical and Dental Sciences;Department of Pathology, Kagoshima University Graduate School of Medical and Dental Sciences;Kagoshima University Hospital Cancer Center, Kagoshima University Hospital;

关键词: Endometrial cytology;    LBC;    NGS;    Endometrial cancer;    MSI;    TMB;   

DOI  :  10.1186/s12920-020-00753-6

来源: DOAJ

【 摘 要 】

Abstract Background Liquid-based cytology (LBC) is now a widely used method for cytologic screening and cancer diagnosis. Since the cells are fixed with alcohol-based fixatives, and the specimens are stored in a liquid condition, LBC specimens are suitable for genetic analyses. Methods Here, we established a small cancer gene panel, including 60 genes and 17 microsatellite markers for next-generation sequencing, and applied to residual LBC specimens obtained by endometrial cancer screening to compare with corresponding formalin-fixed paraffin-embedded (FFPE) tissues. Results A total of 49 FFPE and LBC specimens (n = 24) were analyzed, revealing characteristic mutations for endometrial cancer, including PTEN, CTNNB1, PIK3CA, and PIK3R1 mutations. Eight cases had higher scores for both tumor mutation burden (TMB) and microsatellite instability (MSI), which agree with defective mismatch repair (MMR) protein expression. Paired endometrial LBC, and biopsied and/or resected FFPE tissues from 7 cases, presented almost identical mutations, TMB, and MSI profiles in all cases. Conclusion These findings demonstrate that our ad hoc cancer gene panel enabled the detection of therapeutically actionable gene mutations in endometrial LBC and FFPE specimens. Endometrial cancer LBC specimens offer an alternative and affordable source of molecular testing materials.

【 授权许可】

Unknown