Abstract
BackgroundLiquid-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.MethodsHere, 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.ResultsA 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.ConclusionThese 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.
Highlights
Liquid-based cytology (LBC) is a widely used method for cytologic screening and cancer diagnosis
The storage period of formalin-fixed paraffin-embedded (FFPE) and LBC specimens ranged from 2 weeks to 3 years
Mutations detected in FFPE specimens The detected mutations in endometrial cancers and genomic information of the variants are summarized in supplemental Tables S1 and S2
Summary
Liquid-based cytology (LBC) is a widely used method for cytologic screening and cancer diagnosis. Cytology specimens, including conventional smear, cytospin, liquid-based cytology (LBC), and cell block, are valuable sources of routine molecular diagnostics [7]. Conventional endometrial cytology preparation, has some disadvantages such as bloody background, cellular overlapping, and thick cell clusters; the resulting cytological screening would not be widely accepted in endometrial cancer management except in Japan [19]. After the introduction of LBC in endometrial cytology in combination with transvaginal sonography, LBC-based endometrial cytology, a less invasive and expensive procedure, was proposed to screen cancer in asymptomatic postmenopausal women [20, 21]
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