Federica Cinque

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

Lymphadenectomy for vulvar carcinoma is characterized by many complications. Studies have demonstrated the diagnostic accuracy of sentinel lymph node biopsy (SLNB) as a valid alternative to lymphadenectomy in the early stages of vulvar squamous cell carcinoma (VSCC). Objective: To evaluate the feasibility, safety, and accuracy, as well as the oncological outcomes of SLNB following scar injection; in addition, to assess the role of a repeat sentinel node procedure in patients with local vulvar recurrence after primary treatment. Materials and Methods: A systematic computerized search of the literature was performed in the main electronic databases (MEDLINE, EMBASE, Web of Science, Pub Med, and Cochrane Library) from 2010 to August 2024. Only scientific publications in English were included. Risk of bias assessment was performed. Results: Five articles were included in the study: four retrospective and one prospective observational studies. All patients’ characteristics, including type of surgery, postoperative morbidities, adjuvant therapy, and recurrence, as well as SLN detection and oncological outcomes, have been reported. Four studies compared the scar-injection group (cases) with the tumor-injection group (controls); only one study described the SLNB after vulvar recurrence (second procedure), comparing it with SLNB during primary vulvar surgery (first procedure). Conclusions: SLNB is a feasible and safe option in patients who have had previous excision of the vulvar tumor and in patients with a recurrence of VSCC who are not able or willing to undergo lymphadenectomy. Moreover, it accurately reflects the nodal status in these patients.