Evaluation of somatic mutations in cervicovaginal samples as a non-invasive method for the detection and molecular classification of endometrial cancer

Pelegrina, Beatriz; Paytubi, Sonia; Marin, Fátima; Martínez, José Manuel; Carmona, Álvaro; Frias-Gomez, Jon; Peremiquel-Trillas, Paula; Dorca, Eduard; Zanca, Alba; López-Querol, Marta; Onieva, Irene; Benavente, Yolanda; Barahona, Marc; Fernandez-Gonzalez, Sergi; De Francisco, Javier; Caño, Víctor; Vidal, August; Pijuan, Lara; Canet-Hermida, Júlia; Dueñas, Núria; Brunet, Joan; Pineda, Marta; Matias-Guiu, Xavier; Ponce, Jordi; Bosch, Francesc Xavier; De Sanjosé, Silvia; Alemany, Laia; Costas, Laura

doi:10.1016/j.ebiom.2023.104716

Cited by 4 publications

(1 citation statement)

References 55 publications

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“…Alternatively, vaginal tampons can be used to collect cervicovaginal fluid, representing an inexpensive, easy-to-use self-collection system that is more likely to appeal to women. The samples can be analysed by next-generation sequencing to identify somatic mutations [ 56 ] or, of notable promise, undergo methylation testing [ 57 ]. The WID-qEC test, a three-marker test that appraises DNA methylation in the gene regions of GYPC and ZSCAN12 has been shown to outperform the transvaginal ultrasound measurement of endometrial thickness in the diagnosis of endometrial cancer (AUC WID-qEC 0.94 vs.…”

Section: Advances In Early Diagnosismentioning

confidence: 99%

Recent Advances in Endometrial Cancer Prevention, Early Diagnosis and Treatment

Baker-Rand,

Kitson

2024

Cancers

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Endometrial cancer is the sixth commonest cancer in women worldwide, with over 417,000 diagnoses in 2020. The disease incidence has increased by 132% over the last 30 years and is set to continue to rise in response to an ageing population and increasing global rates of obesity and diabetes. A greater understanding of the mechanisms driving endometrial carcinogenesis has led to the identification of potential strategies for primary disease prevention, although prospective evaluation of their efficacy within clinical trials is still awaited. The early diagnosis of endometrial cancer is associated with improved survival, but has historically relied on invasive endometrial sampling. New, minimally invasive tests using protein and DNA biomarkers and cytology have the potential to transform diagnostic pathways and to allow for the surveillance of high-risk populations. The molecular classification of endometrial cancers has been shown to not only have a prognostic impact, but also to have therapeutic value and is increasingly used to guide adjuvant treatment decisions. Advanced and recurrent disease management has also been revolutionised by increasing the use of debulking surgery and targeted treatments, particularly immunotherapy. This review summarises the recent advances in the prevention, diagnosis and treatment of endometrial cancer and seeks to identify areas for future research.

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Section: Advances In Early Diagnosismentioning

confidence: 99%

Recent Advances in Endometrial Cancer Prevention, Early Diagnosis and Treatment

Baker-Rand,

Kitson

2024

Cancers

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Cervicovaginal specimen biomarkers for early detection of ovarian and endometrial cancer: A review

Kwinten,

Lemain,

de Hullu

et al. 2024

Cancer Medicine

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BackgroundIn the last decade, technical innovations have resulted in the development of several minimally invasive diagnostic cancer tools. Within women at high risk of developing ovarian or endometrial cancer (EC) due to hereditary cancer syndrome, there is an urgent need for minimally invasive and patient‐friendly methods to detect ovarian cancer and EC at an early stage.Materials and MethodsWe performed a systematic search of studies using DNA methylation or mutation analysis, microbiome, or proteomics performed on cervicovaginal specimens (smear, swab, or tampon) intended to detect ovarian and EC published until January 2024.ResultsIncluded studies (n = 36) showed high heterogeneity in terms of biomarkers used and outcomes, and only a few studies reported on the detection of biomarkers in high‐risk subgroups.ConclusionBased on the findings in this review, DNA methylation techniques seem to be the most promising for detecting ovarian and EC at early stages in the general population. Future validation of cervicovaginal DNA methylation techniques is needed to determine whether this technique might be beneficial in hereditary high‐risk subgroups.

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