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液体活检在子宫内膜癌中的诊断准确性

Diagnostic Accuracy of Liquid Biopsy in Endometrial Cancer.

作者信息

Łukasiewicz Marta, Pastuszak Krzysztof, Łapińska-Szumczyk Sylwia, Różański Robert, Veld Sjors G J G In 't, Bieńkowski Michał, Stokowy Tomasz, Ratajska Magdalena, Best Myron G, Würdinger Thomas, Żaczek Anna J, Supernat Anna, Jassem Jacek

机构信息

Laboratory of Translational Oncology, Intercollegiate Faculty of Biotechnology, Medical University of Gdańsk, 80-211 Gdańsk, Poland.

Department of Algorithms and Systems Modelling, Faculty of Electronics, Telecommunication and Informatics, Gdańsk University of Technology, 80-233 Gdańsk, Poland.

出版信息

Cancers (Basel). 2021 Nov 16;13(22):5731. doi: 10.3390/cancers13225731.

DOI:10.3390/cancers13225731
PMID:34830891
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8616122/
Abstract

BACKGROUND

Liquid biopsy is a minimally invasive collection of a patient body fluid sample. In oncology, they offer several advantages compared to traditional tissue biopsies. However, the potential of this method in endometrial cancer (EC) remains poorly explored. We studied the utility of tumor educated platelets (TEPs) and circulating tumor DNA (ctDNA) for preoperative EC diagnosis, including histology determination.

METHODS

TEPs from 295 subjects (53 EC patients, 38 patients with benign gynecologic conditions, and 204 healthy women) were RNA-sequenced. DNA sequencing data were obtained for 519 primary tumor tissues and 16 plasma samples. Artificial intelligence was applied to sample classification.

RESULTS

Platelet-dedicated classifier yielded AUC of 97.5% in the test set when discriminating between healthy subjects and cancer patients. However, the discrimination between endometrial cancer and benign gynecologic conditions was more challenging, with AUC of 84.1%. ctDNA-dedicated classifier discriminated primary tumor tissue samples with AUC of 96% and ctDNA blood samples with AUC of 69.8%.

CONCLUSIONS

Liquid biopsies show potential in EC diagnosis. Both TEPs and ctDNA profiles coupled with artificial intelligence constitute a source of useful information. Further work involving more cases is warranted.

摘要

背景

液体活检是对患者体液样本进行的微创采集。在肿瘤学领域,与传统组织活检相比,它具有多个优势。然而,该方法在子宫内膜癌(EC)中的潜力仍未得到充分探索。我们研究了肿瘤衍生血小板(TEP)和循环肿瘤DNA(ctDNA)在EC术前诊断中的效用,包括组织学判定。

方法

对295名受试者(53例EC患者、38例患有良性妇科疾病的患者和204名健康女性)的TEP进行RNA测序。获取了519份原发性肿瘤组织和16份血浆样本的DNA测序数据。应用人工智能进行样本分类。

结果

在区分健康受试者和癌症患者时,血小板专用分类器在测试集中的曲线下面积(AUC)为97.5%。然而,区分子宫内膜癌和良性妇科疾病更具挑战性,AUC为84.1%。ctDNA专用分类器区分原发性肿瘤组织样本的AUC为96%,区分ctDNA血液样本的AUC为69.8%。

结论

液体活检在EC诊断中显示出潜力。TEP和ctDNA图谱与人工智能相结合构成了有用信息的来源。有必要开展涉及更多病例的进一步研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9e0/8616122/05c6dfbae03e/cancers-13-05731-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9e0/8616122/65e09309ffbc/cancers-13-05731-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9e0/8616122/cb4d0c2f9e25/cancers-13-05731-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9e0/8616122/5de1d417f226/cancers-13-05731-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9e0/8616122/98055b171504/cancers-13-05731-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9e0/8616122/05c6dfbae03e/cancers-13-05731-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9e0/8616122/65e09309ffbc/cancers-13-05731-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9e0/8616122/cb4d0c2f9e25/cancers-13-05731-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9e0/8616122/5de1d417f226/cancers-13-05731-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9e0/8616122/98055b171504/cancers-13-05731-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9e0/8616122/05c6dfbae03e/cancers-13-05731-g005.jpg

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本文引用的文献

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Mol Oncol. 2021 Oct;15(10):2688-2701. doi: 10.1002/1878-0261.13014. Epub 2021 Jun 20.
2
Non-invasive detection of endometrial cancer by DNA methylation analysis in urine.尿液 DNA 甲基化分析无创检测子宫内膜癌。
Clin Epigenetics. 2020 Nov 3;12(1):165. doi: 10.1186/s13148-020-00958-7.
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Mutually distinguishing microRNA signatures of breast, ovarian and endometrial cancers in vitro.
妇科癌症中的液体活检:从分子洞察到精准肿瘤学及临床实践的转化框架
J Exp Clin Cancer Res. 2025 May 8;44(1):140. doi: 10.1186/s13046-025-03371-1.
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Regional differences in the disease burden and attributable risk factors of female cancers.女性癌症疾病负担及可归因风险因素的地区差异。
Sci Rep. 2025 Apr 16;15(1):13092. doi: 10.1038/s41598-025-97482-6.
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Comprehensive Review of Endometrial Cancer: New Molecular and FIGO Classification and Recent Treatment Changes.子宫内膜癌综合综述:新的分子和国际妇产科联盟(FIGO)分类以及近期治疗变化
J Clin Med. 2025 Feb 19;14(4):1385. doi: 10.3390/jcm14041385.
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