Next‐generation sequencing in residual liquid‐based cytology specimens for cancer genome analysis

2020 ◽  
Vol 48 (11) ◽  
pp. 965-971 ◽  
Author(s):  
Tomomi Yamaguchi ◽  
Toshiaki Akahane ◽  
Ohi Harada ◽  
Yasutaka Kato ◽  
Eriko Aimono ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Genome Analysis ◽  
Cancer Genome ◽  
Residual Liquid ◽  
Next Generation ◽  
Liquid Based Cytology ◽  
Generation Sequencing

scholarly journals Comprehensive validation of liquid-based cytology specimens for next-generation sequencing in cancer genome analysis

PLoS ONE ◽  
2019 ◽  
Vol 14 (6) ◽  
pp. e0217724 ◽  
Author(s):  
Toshiaki Akahane ◽  
Tomomi Yamaguchi ◽  
Yasutaka Kato ◽  
Seiya Yokoyama ◽  
Taiji Hamada ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Genome Analysis ◽  
Cancer Genome ◽  
Next Generation ◽  
Liquid Based Cytology ◽  
Generation Sequencing

scholarly journals Next-Generation Sequencing Analysis of Endometrial Screening Liquid-Based Cytology Specimens: A Comparative Study to Tissue Specimens

2020 ◽  
Author(s):  
Toshiaki Akahane ◽  
Ikumi Kitazono ◽  
Shintaro Yanazume ◽  
Masaki Kamio ◽  
Shinichi Togami ◽  
...  
Keyword(s):  
Endometrial Cancer ◽  
Next Generation Sequencing ◽  
Gene Panel ◽  
Molecular Testing ◽  
Sequencing Analysis ◽  
Cancer Gene ◽  
Next Generation ◽  
Ffpe Tissues ◽  
Liquid Based Cytology ◽  
Generation Sequencing

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.

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