Rare Bartholin Gland Cancer Case Highlights Diagnostic Delay and MYB Testing Limits

A 72-year-old woman with more than a decade of vulvar burning pain and a newly discovered vulvar mass has been diagnosed with primary adenoid cystic carcinoma of the Bartholin gland, an extremely rare gynecological malignancy, according to a case report published in BMC Women’s Health on 24 October 2026.

The report, authored by Simin Wang, Ruochen Wu and colleagues, describes how the patient had previously sought care at an outside hospital without receiving a definitive preoperative diagnosis. That delay mirrors a pattern the authors describe as common for this tumor type, whose nonspecific clinical presentation frequently leads to misdiagnosis as a Bartholin gland cyst, abscess, or other vulvar lesions.

Gynecological examination in this case revealed age-related vulvar atrophy and a palpable firm vulvar mass. The patient underwent simple excision of the mass, and postoperative histopathological examination combined with immunohistochemical staining confirmed the diagnosis of adenoid cystic carcinoma.

Beyond the standard pathological work-up, the team pursued molecular characterization of the tumor. Fluorescence in situ hybridization (FISH) detected no MYB gene rearrangement in the specimen, and HPV in situ hybridization found no expression of HPV E6/E7 mRNA in the tumor tissue. The authors note that the molecular features of this entity, particularly the status of MYB gene rearrangement, remain incompletely characterized.

A key conclusion drawn from the case is that the absence of MYB gene rearrangement detected by FISH does not exclude the diagnosis of primary Bartholin gland adenoid cystic carcinoma. The authors emphasize that histopathological and immunohistochemical examination remains indispensable in establishing the diagnosis.

No adjuvant therapy was administered after the excision. At the four-month postoperative follow-up, there was no evidence of local recurrence or distant metastasis. As a single case report with short follow-up, these observations describe one patient’s early outcome rather than establishing long-term effectiveness of the treatment approach.

The authors frame the case as a caution against diagnostic delay. They write that increased clinical awareness and timely pathological assessment are essential to avoid missed or delayed diagnosis of this rare entity, which carries a risk of delay precisely because its manifestations are nonspecific.

Definitive diagnosis, according to the report, relies on histopathological examination combined with immunohistochemistry. The case underwent detailed histopathological evaluation, immunohistochemical assessment, and MYB rearrangement detection by FISH, with the stated aim of describing the clinicopathological features of this rare entity and highlighting diagnostic considerations for clinicians.

The report appears as a peer-reviewed, accepted case report released early to provide faster access, a version subject to further edits before the final Version of Record.

Subject of Research: A case report of primary adenoid cystic carcinoma of the Bartholin gland and its histopathological and molecular diagnostic evaluation.

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

Article References: Wang, S., Wu, R., Xiang, Z., Teng, J., Huang, H., Sun, W., Li, X., Shang, F., & Zhang, S. (2026). Primary adenoid cystic carcinoma of the Bartholin gland: a case report and review of the literature. BMC Women's Health. https://doi.org/10.1186/s12905-026-05026-5

Image Credits: AI Generated

DOI: 10.1186/s12905-026-05026-5

Keywords: Bartholin gland, adenoid cystic carcinoma, vulvar cancer, case report, MYB gene rearrangement, fluorescence in situ hybridization, immunohistochemistry, diagnostic delay, gynecological malignancy, HPV E6/E7 mRNA, BMC Women's Health, Primary