Sensitive Detection of Gynecological Cancer Recurrence Using Circulating Tumor DNA and Digital PCR - A Comparative Study with Serum Biochemical Markers

Sep 21, 2026

Early detection of recurrences in gynecological cancers is crucial for women’s health. Circulating tumor DNA (ctDNA) analysis through liquid biopsy offers a promising approach for monitoring disease progression and identifying relapses. This study investigated digital polymerase chain reaction (dPCR) for ctDNA detection in three patients with clinically confirmed relapses over a two-year post-surgical follow-up, comparing results with standard serum biochemical markers.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages13

Reading Time33 min

AccessFree to download

Abstract

Keywords

Introduction

Article Sensitive Detection of Gynecological Cancer Recurrence Using Circulating Tumor DNA and Digital PCR: A Comparative Study with Serum Biochemical Markers Nour Balasan 1,*, Feras Kharrat 1, Giovanni Di Lorenzo 1, Emmanouil Athanasakis 1, Anna Monica Bianco 1, Andrea Conti 1, Maria Teresa Di Stazio 1, Giulia Butera 1, Stefania Cicogna 1, Alessandro Mangogna 1, Federico Romano 1, Giuseppe Ricci 1,2 and Adamo Pio d’Adamo 1,2 Citation: Balasan, N.; Kharrat, F.; Di Lorenzo, G.; Athanasakis, E.; Bianco, A.M.; Conti, A.; Di Stazio, M.T.; Butera, G.; Cicogna, S.; Mangogna, A.; et al. Sensitive Detection of Gynecological Cancer Recurrence Using Circulating Tumor DNA and Digital PCR: A Comparative Study with Serum Biochemical Markers. Int. J. Mol. Sci. 2024, 25, 11997. [https://](https://)[ ](https://)[doi.org/10.3390/ijms252211997](doi.org/10.3390/ijms252211997) Academic Editor: Seung-Yup Ku Received: 30 September 2024 Revised: 25 October 2024 Accepted: 31 October 2024 Published: 8 November 2024 Copyright: © 2024 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ([https://](https://)[ ](https://)[creativecommons.org/licenses/by/](creativecommons.org/licenses/by/)[ ](creativecommons.org/licenses/by/)[4.0/](4.0/)) . 1 Institute for Maternal and Child Health-IRCCS “Burlo Garofolo”, 65/1 Via dell’Istria, 34137 Trieste, Italy; [feras.kharrat@burlo.trieste.it](feras.kharrat@burlo.trieste.it) (F.K.); [emmanouil.a@gmail.com](emmanouil.a@gmail.com) (E.A.); [annamonica.bianco@burlo.trieste.it](annamonica.bianco@burlo.trieste.it) (A.M.B.); [andrea.conti@burlo.trieste.it](andrea.conti@burlo.trieste.it) (A.C.); [mariateresa.distazio@burlo.trieste.it](mariateresa.distazio@burlo.trieste.it) (M.T.D.S.); [giulia.butera@burlo.trieste.it](giulia.butera@burlo.trieste.it) (G.B.); [stefania.cicogna@burlo.trieste.it](stefania.cicogna@burlo.trieste.it) (S.C.); [alessandro.mangogna@burlo.trieste.it](alessandro.mangogna@burlo.trieste.it) (A.M.); [federico.romano@burlo.trieste.it](federico.romano@burlo.trieste.it) (F.R.); [giuseppe.ricci@burlo.trieste.it](giuseppe.ricci@burlo.trieste.it) (G.R.); [adamopio.dadamo@burlo.trieste.it](adamopio.dadamo@burlo.trieste.it) (A.P.d.) 2 Department of Medicine, Surgery and Health Sciences, University of Trieste, Strada di Fiume 447, 34149 Trieste, Italy * [Correspondence: nour.balasan@burlo.trieste.it](Correspondence: nour.balasan@burlo.trieste.it) Abstract: Early detection of recurrences in gynecological cancers is crucial for women’s health. Circulating tumor DNA (ctDNA) analysis through liquid biopsy offers a promising approach for monitoring disease progression and identifying relapses. This study investigated the utility of digital Polymerase Chain Reaction (dPCR) for ctDNA detection in three gynecological cancer patients with clinically confirmed relapses during a two-year post-surgical follow-up. Patient-specific tumor mutations were identified through whole-exome sequencing (WES) and confirmed via Sanger sequencing. dPCR probes targeting these mutations were used to quantify the ctDNA levels in plasma samples collected throughout the follow-up period, and the findings were compared with standard serum biochemical markers. In two patients, persistent positive dPCR signals for the selected mutations were detected after tumor removal, with ctDNA levels progressively increasing even after post-surgical chemotherapy. Notably, dPCR identified elevated ctDNA levels before an increase in the cancer antigen 125 (CA125) biochemical marker was observed. In the third patient, no ctDNA signals from the two selected mutations were detected despite clinical evidence of recurrence, suggesting the emergence of new mutations. While this study highlights the promise of dPCR for early recurrence detection in gynecological cancers, it also underscores the critica

FAQs

What was the study’s main goal?

To evaluate whether digital PCR can sensitively detect circulating tumor DNA for early detection of gynecological cancer recurrence, and to compare it with standard serum biochemical markers.

How were patient-specific mutations identified for ctDNA detection?

Patient-specific tumor mutations were determined using whole-exome sequencing (WES) and confirmed by Sanger sequencing, then targeted by dPCR probes.

How did ctDNA findings relate to the CA125 biochemical marker?

In two observations, dPCR detected elevated ctDNA before an increase in the CA125 biochemical marker was seen, supporting earlier recurrence detection.

Sep 21, 2026

Upload by Evangeline