Endoscopic Mastectomy in Patients with Genetic Mutations

基因突变患者的内镜乳房切除术

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Abstract

OBJECTIVE: To describe clinical, surgical, and cosmetic outcomes in patients with germline mutations undergoing endoscopic nipple- and skin-sparing mastectomy (eNSM) with immediate reconstruction. METHODS: We conducted a retrospective review of 6 patients (11 breasts) treated between March 2022 and May 2024. All patients had confirmed BRCA1, BRCA2, CHEK2, or MUTYH mutations. Data on operative time, bleeding, specimen weight, reconstruction satisfaction (BRECON 31), complications, and recurrence were collected. RESULTS: All surgeries were completed without conversion to open surgery. Mean age was 41 ± 9.2 years; mean surgical time was 115.6 ± 11.0 minutes; mean blood loss was 110 ± 70.9 mL. No complications were reported. BRECON 31 satisfaction score at 6 months was 15.3/16. Median follow-up was 13 months with no recurrences. CONCLUSIONS: eNSM is a feasible and effective option for patients with high-risk genetic mutations, offering oncologic safety and high satisfaction in our initial Latin American experience.

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