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Feasibility and clinical applicability of genomic profiling based on cervical smear samples in patients with endometrial cancer

 Namsoo Kim  ;  Yoo-Na Kim  ;  Kyunglim Lee  ;  Eunhyang Park  ;  Yong Jae Lee  ;  So Yoon Hwang  ;  Jihyang Park  ;  Zisun Choi  ;  Sang Wun Kim  ;  Sunghoon Kim  ;  Jong Rak Choi  ;  Seung-Tae Lee  ;  Jung-Yun Lee 
 FRONTIERS IN ONCOLOGY, Vol.12 : 942735, 2022-08 
Journal Title
Issue Date
Papanicolaou (PAP) smear ; circulating tumor DNA (ctDNA) ; endometrial cancer ; immunohistochemistry ; molecular classification and biomarkers
Purpose: Cervical smear samples are easily obtainable and may effectively reflect the tumor microenvironment in gynecological cancers. Therefore, we investigated the feasibility of genomic profiling based on tumor DNA analysis from cervical smear samples from endometrial cancer patients.

Materials and methods: Preoperative cervical smear samples were obtained via vaginal sampling in 50 patients, including 39 with endometrial cancer and 11 with benign uterine disease. Matched blood samples were obtained simultaneously. Genomic DNA (gDNA) from cervical smear and/or cell-free DNA from whole blood were extracted and sequenced using the Pan100 panel covering 100 endometrial cancer-related genes.

Results: Cervical swab-based gDNA analysis detected cancer with 67% sensitivity and 100% specificity, showing a superior performance compared to that of the matched blood or Pap smear tests. Cervical swab-based gDNA effectively identified patients with loss of MSH2 or MSH6 and aberrant p53 expression based on immunohistochemistry. Genomic landscape analysis of cervical swab-based gDNA identified PTEN, PIK3CA, TP53, and ARID1A as the most frequently altered genes. Furthermore, 26 endometrial cancer patients could be classified according to the Proactive Molecular Risk Classifier for Endometrial Cancer.

Conclusion: Cervical swab-based gDNA test showed an improved detection potential and allowed the classification of patients, which has both predictive and prognostic implications.
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Obstetrics and Gynecology (산부인과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
Yonsei Authors
Kim, Sang Wun(김상운) ORCID logo https://orcid.org/0000-0002-8342-8701
Kim, Sung Hoon(김성훈) ORCID logo https://orcid.org/0000-0002-1645-7473
Kim, Yoo‐Na(김유나)
Park, Eunhyang(박은향) ORCID logo https://orcid.org/0000-0003-2658-5054
Lee, Seung-Tae(이승태) ORCID logo https://orcid.org/0000-0003-1047-1415
Lee, Yong Jae(이용재) ORCID logo https://orcid.org/0000-0003-0297-3116
Lee, Jung-Yun(이정윤) ORCID logo https://orcid.org/0000-0001-7948-1350
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
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