Clinical Advances

Application of ctDNA in gynecological malignant cancer

  • Ping YIN ,
  • Hanzi XU ,
  • Chenjing. ZHU
Expand
  • The Affiliated Cancer Hospital of Nanjing Medical University,Jiangsu Cancer Hospital,Jiangsu Institute of Cancer Research,Nanjing 210009,China

Received date: 2023-05-22

  Online published: 2023-09-27

Abstract

As a non-invasive way to obtain tumor samples, liquid biopsy has the advantages of minimal invasiveness and repeatability. Through liquid biopsy, corresponding circulating tumor DNA can be obtained, including point mutations, copy number variations, and DNA methylation. It has been approved for the diagnosis and treatment of various malignant tumors. This article reviews the research and application of circulating tumor DNA, a liquid biopsy technology, in the early diagnosis, risk assessment of recurrence and metastasis, treatment guidance, and dynamic follow-up and monitoring of gynecological malignancies.

Cite this article

Ping YIN , Hanzi XU , Chenjing. ZHU . Application of ctDNA in gynecological malignant cancer[J]. The Journal of Practical Medicine, 2023 , 39(17) : 2153 -2158 . DOI: 10.3969/j.issn.1006-5725.2023.17.001

References

1 SNYDER M W, KIRCHER M, HILL A J, et al. Cell-free DNA Comprises an In Vivo Nucleosome Footprint that Informs Its Tissues-Of-Origin [J]. Cell, 2016, 164(1/2): 57-68.
2 SUN K, JIANG P, CHAN K C, et al. Plasma DNA tissue mapping by genome-wide methylation sequencing for noninvasive prenatal, cancer, and transplantation assessments [J]. Proc Natl Acad Sci U S A, 2015, 112(40): E5503-E5512.
3 MOSELE F, REMON J, MATEO J, et al. Recommendations for the use of next-generation sequencing (NGS) for patients with metastatic cancers: a report from the ESMO Precision Medicine Working Group [J]. Ann Oncol, 2020, 31(11): 1491-1505.
4 MENCEL J, SLATER S, CARTWRIGHT E, et al. The Role of ctDNA in Gastric Cancer [J]. Cancers (Basel), 2022, 14(20): 5105.
5 WAN J C M, MASSIE C, GARCIA-CORBACHO J, et al. Liquid biopsies come of age: towards implementation of circulating tumour DNA [J]. Nat Rev Cancer, 2017, 17(4): 223-238.
6 CAO W, CHEN H D, YU Y W, et al. Changing profiles of cancer burden worldwide and in China: a secondary analysis of the global cancer statistics 2020 [J]. Chin Med J (Engl), 2021, 134(7): 783-791.
7 韩鹏, 张云雷, 杨淑霞, 等. 2016-2021年淄博市宫颈癌发病、死亡及疾病负担趋势分析[J]. 实用医学杂志,2023, 39(10): 1290-1295.
8 LI S, HU T, LV W, et al. Changes in prevalence and clinical characteristics of cervical cancer in the People's Republic of China: a study of 10,012 cases from a nationwide working group [J]. Oncologist, 2013, 18(10): 1101-1107.
9 OKAZAWA-SAKAI M, MABUCHI S, ISOHASHI F, et al. Predictors of distant relapse in patients with FIGO stage IIB-IVA cervical cancer treated with definitive radiotherapy [J]. J Obstet Gynaecol Res, 2017, 43(11): 1743-1750.
10 冯同富. 宫颈癌筛查策略的变迁及思考[J].实用医学杂志,2022, 38(15): 1865-1871.
11 GALATI L, COMBES J D, LE CALVEZ-KELM F, et al. Detection of Circulating HPV16 DNA as a Biomarker for Cervical Cancer by a Bead-Based HPV Genotyping Assay [J]. Microbiol Spectr, 2022, 10(2): e0148021.
12 GU Y, WAN C, QIU J, et al. Circulating HPV cDNA in the blood as a reliable biomarker for cervical cancer: A meta-analysis [J]. PLoS One, 2020, 15(2): e0224001.
13 COCUZZA C E, MARTINELLI M, SINA F, et al. Human papillomavirus DNA detection in plasma and cervical samples of women with a recent history of low grade or precancerous cervical dysplasia [J]. PLoS One, 2017, 12(11): e0188592.
14 YANG H J, LIU V W, TSANG P C, et al. Quantification of human papillomavirus DNA in the plasma of patients with cervical cancer [J]. Int J Gynecol Cancer, 2004, 14(5): 903-910.
15 B?NL?KKE S, STOUGAARD M, SORENSEN B S, et al. The Diagnostic Value of Circulating Cell-Free HPV DNA in Plasma from Cervical Cancer Patients [J]. Cells, 2022, 11(14): 2170.
16 Cancer Genome Atlas Research Network, Albert Einstein College of Medicine, Analytical Biological Services, et al. Integrated genomic and molecular characterization of cervical cancer [J]. Nature, 2017, 543(7645): 378-384.
17 ZHANG Y, YAO Y, XU Y, et al. Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients [J]. Nat Commun, 2021, 12(1): 11.
18 TIAN X, GE D, ZHANG F, et al. Dynamic analysis of circulating tumor DNA to predict prognosis and monitor therapeutic response in metastatic relapsed cervical cancer [J]. Int J Cancer, 2021, 148(4): 921-931.
19 JEANNOT E, LATOUCHE A, BONNEAU C, et al. Circulating HPV DNA as a Marker for Early Detection of Relapse in Patients with Cervical Cancer [J]. Clin Cancer Res, 2021, 27(21): 5869-5877.
20 CABEL L, BONNEAU C, BERNARD-TESSIER A, et al. HPV ctDNA detection of high-risk HPV types during chemoradiotherapy for locally advanced cervical cancer [J]. ESMO Open, 2021, 6(3): 100154.
21 CAMPITELLI M, JEANNOT E, PETER M, et al. Human papillomavirus mutational insertion: specific marker of circulating tumor DNA in cervical cancer patients [J]. PLoS One, 2012, 7(8): e43393.
22 CHUNG T K H, CHEUNG T H, YIM S F, et al. Liquid biopsy of PIK3CA mutations in cervical cancer in Hong Kong Chinese women [J]. Gynecol Oncol, 2017, 146(2): 334-339.
23 SIVARS L, HELLMAN K, CRONA GUTERSTAM Y, et al. Circulating cell-free tumor human papillomavirus DNA is a promising biomarker in cervical cancer [J]. Gynecol Oncol, 2022, 167(1): 107-114.
24 National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines of Cervical Cancer (Version 1.2023)[EB/OL]. (2023-04-28). [2023-05-09]. .
25 JIANG X, TANG H, CHEN T. Epidemiology of gynecologic cancers in China [J]. J Gynecol Oncol, 2018, 29(1): e7.
26 FENG W, JIA N, JIAO H, et al. Circulating tumor DNA as a prognostic marker in high-risk endometrial cancer [J]. J Transl Med, 2021, 19(1): 51.
27 CASAS-AROZAMENA C, DíAZ E, MOIOLA C P, et al. Genomic Profiling of Uterine Aspirates and cfDNA as an Integrative Liquid Biopsy Strategy in Endometrial Cancer [J]. J Clin Med, 2020, 9(2): 585.
28 CASAS-AROZAMENA C, CORTEGOSO A, PI?EIRO-PEREZ R, et al. Improving the Management of Endometrial Cancer Patients through the Use of Liquid Biopsy Analyses: A Case Report [J]. Int J Mol Sci, 2022, 23(15): 8539.
29 National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines of Uterine Neoplasms (Version 2.2023)[EB/OL]. (2023-4-28). [2023-05-09]. .
30 MARABELLE A, LE D T, ASCIERTO P A, et al. Efficacy of Pembrolizumab in Patients With Noncolorectal High Microsatellite Instability/Mismatch Repair-Deficient Cancer: Results From the Phase II KEYNOTE-158 Study [J]. J Clin Oncol, 2020, 38(1): 1-10.
31 SILVEIRA A B, BIDARD F C, KASPEREK A, et al. High-Accuracy Determination of Microsatellite Instability Compatible with Liquid Biopsies [J]. Clin Chem, 2020, 66(4): 606-613.
32 SHINTANI D, HIHARA T, OGASAWARA A, et al. Tumor-related mutations in cell-free DNA in pre-operative plasma as a prognostic indicator of recurrence in endometrial cancer [J]. Int J Gynecol Cancer, 2020, 30(9): 1340-1346.
33 KAJIYAMA H, SHIBATA K, MIZUNO M, et al. Long-term survival of young women receiving fertility-sparing surgery for ovarian cancer in comparison with those undergoing radical surgery [J]. Br J Cancer, 2011, 105(9): 1288-1294.
34 FELDER M, KAPUR A, GONZALEZ-BOSQUET J, et al. MUC16 (CA125): tumor biomarker to cancer therapy, a work in progress [J]. Mol Cancer, 2014, 13:129.
35 HENDERSON J T, WEBBER E M, SAWAYA G F. Screening for Ovarian Cancer: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force [J]. JAMA, 2018, 319(6): 595-606.
36 SHAO X, HE Y, JI M, et al. Quantitative analysis of cell-free DNA in ovarian cancer [J]. Oncol Lett, 2015, 10(6): 3478-3482.
37 STAMENKOVIC S, CHENG J, SUROWY H, et al. Circulating cell-free DNA variables as marker of ovarian cancer patients: A pilot study [J]. Cancer Biomark, 2020, 28(2): 159-167.
38 ZHANG L, HU C, HUANG Z, et al. In Silico screening of circulating tumor DNA, circulating microRNAs, and long non-coding RNAs as diagnostic molecular biomarkers in ovarian cancer: A comprehensive meta-analysis [J]. PLoS One, 2021, 16(4): e0250717.
39 KIM Y M, LEE S W, LEE Y J, et al. Prospective study of the efficacy and utility of TP53 mutations in circulating tumor DNA as a non-invasive biomarker of treatment response monitoring in patients with high-grade serous ovarian carcinoma [J]. J Gynecol Oncol, 2019, 30(3): e32.
40 MARINELLI L M, KISIEL J B, SLETTEDAHL S W, et al. Methylated DNA markers for plasma detection of ovarian cancer: Discovery, validation, and clinical feasibility [J]. Gynecol Oncol, 2022, 165(3): 568-576.
41 WANG B, YU L, LUO X, et al. Detection of OPCML methylation, a possible epigenetic marker, from free serum circulating DNA to improve the diagnosis of early-stage ovarian epithelial cancer [J]. Oncol Lett, 2017, 14(1): 217-223.
42 VANDERSTICHELE A, BUSSCHAERT P, SMEETS D, et al. Chromosomal Instability in Cell-Free DNA as a Highly Specific Biomarker for Detection of Ovarian Cancer in Women with Adnexal Masses [J]. Clin Cancer Res, 2017, 23(9): 2223-2231.
43 BRYANT A, HIU S, KUNONGA P T, et al. Impact of residual disease as a prognostic factor for survival in women with advanced epithelial ovarian cancer after primary surgery [J]. Cochrane Database Syst Rev, 2022, 9(9): Cd015048.
44 VITALE S R, GROENENDIJK F H, VAN MARION R, et al. TP53 Mutations in Serum Circulating Cell-Free Tumor DNA As Longitudinal Biomarker for High-Grade Serous Ovarian Cancer [J]. Biomolecules, 2020, 10(3): 415.
45 TSERPELI V, STERGIOPOULOU D, LONDRA D, et al. Prognostic Significance of SLFN11 Methylation in Plasma Cell-Free DNA in Advanced High-Grade Serous Ovarian Cancer [J]. Cancers (Basel), 2021, 14(1): 4.
46 HOU J Y, CHAPMAN J S, KALASHNIKOVA E, et al. Circulating tumor DNA monitoring for early recurrence detection in epithelial ovarian cancer [J]. Gynecol Oncol, 2022, S0090-8258(22)00590-X.
47 KAMAT A A, BALDWIN M, URBAUER D, et al. Plasma cell-free DNA in ovarian cancer: an independent prognostic biomarker [J]. Cancer, 2010, 116(8): 1918-1925.
48 PARKINSON C A, GALE D, PISKORZ A M, et al. Exploratory Analysis of TP53 Mutations in Circulating Tumour DNA as Biomarkers of Treatment Response for Patients with Relapsed High-Grade Serous Ovarian Carcinoma: A Retrospective Study [J]. PLoS Med, 2016, 13(12): e1002198.
Outlines

/