Primary adenoid cystic carcinoma of the Bartholin gland: a case report and review of the literature

Primary adenoid cystic carcinoma of the Bartholin gland is an extremely rare gynecological malignancy. Due to its nonspecific clinical presentation, the disease is frequently misdiagnosed or associated with delayed diagnosis. It is commonly mistaken for Bartholin gland cyst, abscess, or other vulvar lesions. Definitive diagnosis relies on histopathological examination combined with immunohistochemistry, while the molecular features of this entity—particularly the status of MYB gene rearrangement—remain incompletely characterized. Herein, we report a case of primary Bartholin gland adenoid cystic carcinoma that underwent detailed histopathological evaluation, immunohistochemical assessment, and MYB gene rearrangement detection by fluorescence in situ hybridization (FISH), aiming to describe the clinicopathological features of this rare entity and highlight diagnostic considerations. A 72-year-old female presented with a more than 10-year history of vulvar burning pain and a 1-day history of a newly identified vulvar mass. She had previously presented to an outside hospital but did not receive a definitive preoperative diagnosis, consistent with the commonly reported diagnostic delay for this entity. Gynecological examination revealed age-related vulvar atrophy and a palpable firm vulvar mass. The patient underwent simple excision of the vulvar mass. Postoperative histopathological examination combined with immunohistochemical staining confirmed the diagnosis of adenoid cystic carcinoma. No MYB gene rearrangement was detected by FISH, and no HPV E6/E7 mRNA expression was detected by HPV in situ hybridization in the tumor specimen. No adjuvant therapy was administered. At the 4-month postoperative follow-up, there was no evidence of local recurrence or distant metastasis. Primary adenoid cystic carcinoma of the Bartholin gland is a rare entity with nonspecific clinical manifestations, carrying a risk of diagnostic delay. This case highlights the indispensable role of histopathological and immunohistochemical examination in establishing the diagnosis. The absence of MYB gene rearrangement detected by fluorescence in situ hybridization does not exclude the diagnosis of this disease. Increased clinical awareness and timely pathological assessment are essential to avoid missed or delayed diagnosis of this rare entity.