The Application of Liquid Biopsy for the Development and Validation of a Non-Invasive Screening and Diagnosis Test for Endometrial Premalignant and Malignant Lesions: A Prospective Innovative Pilot Study DOI Open Access
Giuseppina Esposito, Giuseppe D’Angelo, Luigia De Falco

и другие.

Cancers, Год журнала: 2025, Номер 17(7), С. 1078 - 1078

Опубликована: Март 23, 2025

Background/Objectives: Endometrial cancer (EC) is a common malignancy in developed countries, with incidence closely linked to lifestyle factors and genetic predispositions, notably Lynch syndrome. Traditional biopsy methods for diagnosis monitoring are invasive. This study aims develop validate non-invasive diagnostic method EC using liquid biopsy, specifically examining circulating tumor DNA (ctDNA) its potential early detection disease monitoring. Methods: A cohort of 63 patients or atypical endometrial hyperplasia (AEH) was recruited from the Gynecological Unit Azienda Ospedaliera Universitaria Federico II. Plasma samples were processed extract ctDNA, which sequenced analyzed mutations. Matched tissue germline also examined confirm mutation concordance assess predispositions. Results: Pathogenic mutations identified plasma ctDNA 59 out cases (93%), 65% between those found solid samples. Key genes such as PTEN, PIK3R1, KMT2C significantly associated higher grade advanced stage disease, myometrial infiltration. Conclusions: Liquid shows promise minimally invasive tool EC, offering real-time insights into biology. The high underscores managing particularly at risk recurrence. Further longitudinal studies needed establish standard

Язык: Английский

The Application of Liquid Biopsy for the Development and Validation of a Non-Invasive Screening and Diagnosis Test for Endometrial Premalignant and Malignant Lesions: A Prospective Innovative Pilot Study DOI Open Access
Giuseppina Esposito, Giuseppe D’Angelo, Luigia De Falco

и другие.

Cancers, Год журнала: 2025, Номер 17(7), С. 1078 - 1078

Опубликована: Март 23, 2025

Background/Objectives: Endometrial cancer (EC) is a common malignancy in developed countries, with incidence closely linked to lifestyle factors and genetic predispositions, notably Lynch syndrome. Traditional biopsy methods for diagnosis monitoring are invasive. This study aims develop validate non-invasive diagnostic method EC using liquid biopsy, specifically examining circulating tumor DNA (ctDNA) its potential early detection disease monitoring. Methods: A cohort of 63 patients or atypical endometrial hyperplasia (AEH) was recruited from the Gynecological Unit Azienda Ospedaliera Universitaria Federico II. Plasma samples were processed extract ctDNA, which sequenced analyzed mutations. Matched tissue germline also examined confirm mutation concordance assess predispositions. Results: Pathogenic mutations identified plasma ctDNA 59 out cases (93%), 65% between those found solid samples. Key genes such as PTEN, PIK3R1, KMT2C significantly associated higher grade advanced stage disease, myometrial infiltration. Conclusions: Liquid shows promise minimally invasive tool EC, offering real-time insights into biology. The high underscores managing particularly at risk recurrence. Further longitudinal studies needed establish standard

Язык: Английский

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