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Diseases of the vagina

  • Lesion

The vagina is seldom the starting point of disease: developmental remnants, a few HPV-related cancers and a rare grape-like sarcoma of small girls.

Updated

What it is

The vagina is rarely the primary site of disease; most of its cancers spread from the cervix or vulva. Developmental problems include a septate or double vagina from incomplete Müllerian fusion, Gartner duct cysts from mesonephric remnants, and adenosis, glandular epithelium that persisted, classically after diethylstilbestrol exposure in utero. Primary squamous carcinoma follows the HPV pathway, and embryonal rhabdomyosarcoma forms polypoid grape-like masses in infants and young children.

Structure

  • Gartner duct cyst: a smooth submucosal cyst of the lateral wall.
  • Adenosis: mucinous endocervical-type or tubo-endometrial glands replacing the squamous lining or lying beneath it.
  • Squamous carcinoma: nests of atypical squamous cells, keratinizing or not, invading from VAIN.
  • Embryonal rhabdomyosarcoma: soft polypoid masses that may protrude from the introitus; small round to spindle cells crowd beneath the epithelium (cambium layer); some rhabdomyoblasts show cross-striations.

Step by step

  1. The upper vagina comes from the fused Müllerian ducts and the lower vagina from the urogenital sinus; the mesonephric ducts regress.
  2. Incomplete fusion leaves a septum; mesonephric rests that persist form Gartner duct cysts.
  3. In-utero diethylstilbestrol blocked the squamous replacement of Müllerian glandular lining, leaving adenosis; a few clear cell carcinomas arose there.
  4. In adults, high-risk HPV drives VAIN and squamous carcinoma, usually with lesions elsewhere in the lower genital tract.
  5. In young children, a primitive mesenchymal tumour with skeletal-muscle differentiation grows under the mucosa as embryonal rhabdomyosarcoma.

Markers

  • Desmin
  • Myogenin
  • MyoD1
  • p16 (HPV-related squamous lesions)

Clinical notes

  • Most vaginal malignancies are metastases or direct extension from the cervix, vulva or endometrium, so a primary is diagnosed only after excluding these.
  • Embryonal rhabdomyosarcoma presents with bleeding or a mass in a small girl; treatment combines surgery and chemotherapy.
  • Women exposed to diethylstilbestrol before birth were followed for adenosis and clear cell carcinoma; the drug is no longer used in pregnancy.

Test yourself

Think of the answer, then tap the question to see it.

Where do Gartner duct cysts come from?

From persistent mesonephric (Wolffian) duct remnants in the lateral wall of the vagina.

What is the cambium layer and in which tumour is it seen?

A dense zone of tumour cells just beneath the mucosa, typical of embryonal rhabdomyosarcoma (sarcoma botryoides) of the vagina in young children.

Which in-utero exposure is linked to vaginal adenosis and clear cell adenocarcinoma?

Diethylstilbestrol taken by the mother during pregnancy.

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Educational content on the mechanisms of disease; not a diagnostic or treatment guide and no substitute for a health professional's advice. No doses are given.

Sources: Vaginal Cancer Treatment (PDQ®)–Health Professional Version (National Cancer Institute, 2026).

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Representative model, for educational purposes only.