Title : Adenocarcinoma of mammary gland type of the vulva: A rare case report
Abstract:
A primary vulvar mammary type of adenocarcinoma is an exceptionally rare malignancy that is thought to arise from mammary-like vulvar glands. Low incidence is partly responsible for the lack of guidelines for patient management. We report a case of a 38 year old female who presented with an ulcerated lesion on left labia majora with a detailed description of the pathological, immunohistochemical and molecular features. Immunohistochemical analysis showed strong staining for cytokeratin 7, p16, GATA3, TRPS1, HER2neu and Androgen Receptor, while negative expression for p63, p40, Estrogen receptor, and Progesterone receptor . Molecular testing detected ERBB2 (HER2) amplification alongside Tier 1 PIK3CA p.Glu545Lys (E545K) and TP53 p.Tyr220Cys (Y220C) missense mutations, with gains in CDKN2A and CDK4. . This case report underscores the difficulties encountered in diagnosing and treating this uncommon condition, while also highlighting the critical role of a multidisciplinary team in ensuring the best possible care for patients with vulvar mammary-type adenocarcinoma.
