Advances in the diagnosis and treatment of primary malignant melanoma of the vagina- a case presentation and systematic review.

Abstract

Background: Primary Vaginal Melanoma (PVM) is a rare and highly aggressive malignancy, accounting for only 0.3-0.8% of all female melanomas, with an extremely poor prognosis.

Objectives: This study aims to present the diagnostic process, surgical management, and postoperative chemotherapy options in a patient initially diagnosed with vaginal neuroendocrine carcinoma, later confirmed to have PVM. Additionally, we provide a systematic review to enhance awareness of PVM, reduce misdiagnosis, and improve early detection.

Methods: A systematic review of the literature was conducted, and a case report was analyzed.

Results: A total of 89 publications were reviewed, summarizing the various treatment strategies and survival outcomes for PVM. In the reported case, postoperative pathology confirmed the diagnosis of PVM, differentiating it from primary vaginal neuroendocrine carcinoma. The treatment involved partial vaginal excision and removal of lesions from the posterior vaginal wall, followed by adjuvant chemotherapy with temozolomide and cisplatin.

Conclusion: PVM is highly malignant with a poor prognosis, and surgical resection remains the primary treatment modality; however, its efficacy is limited. While chemotherapy may benefit some patients, the five-year survival rate ranging from 5 to 25%. Therefore, the development of novel therapeutic strategies is crucial. Recent advancements in immunotherapy and targeted therapies targeting BRAF/KIT mutations show promise, but standardized diagnostic and treatment protocols are still lacking. Future multicenter, long-term studies are needed to develop individualized treatment plans based on molecular profiling, providing an evidence-based approach to optimize diagnostic strategies and improve survival rates.