Vaginal clear cell adenocarcinoma in Herlyn-Werner-Wunderlich syndrome: A case report

BACKGROUND Herlyn-Werner-Wunderlich (HWW) syndrome is a rare Müllerian duct anomaly, characterized by a combination of urogenital abnormalities. The occurrence of primary cervico-vaginal carcinomas in patients with HWW syndrome is exceptionally rare, posing significant challenges for screening, early diagnosis, and effective management. CASE SUMMARY We report a rare case of primary clear cell carcinoma of the vagina complicated in a 40-year-old woman with HWW syndrome. The patient presented with irregular vaginal bleeding for 4 years. On gynecological examination, an oblique vaginal septum was suspected. Surgical resection of the vaginal septum revealed a communicating fistula and a tumor on the left vagina and the left side of the septum, which was confirmed as clear cell carcinoma. One month later, she underwent a radical hysterectomy, vaginectomy, bilateral salpingo-oophorectomy, and pelvic lymph node dissection. Due to significant side effects, she completed only one course of chemotherapy. A year later, lung metastasis was detected and continued to grow. A thoracoscopic wedge resection of the right upper lobe was performed 4 years after the initial surgery. We also conducted a systemic review of the literature on primary cervical or vaginal carcinoma in HWW syndrome to explore this rare entity. CONCLUSION Cervico-vaginal adenocarcinomas in patients with HWW syndrome are occult, and require early surgical intervention and regular imaging surveillance.