Objective Vaginal yolk sac tumors (YSTs) are rare malignant germ cell tumors largely affecting children younger than 3 years. Because of their low incidence, there is no consensus regarding diagnosis and treatment. In this article, we describe the presentation, diagnosis, treatment, and outcomes of 16 patients with vaginal YSTs diagnosed and managed at our center.

Methods Diagnoses of YST of the vagina were confirmed by 2 experienced pathologists. All patients were treated with bleomycin, etoposide, and cisplatin (PEB) combination chemotherapy alone. Complete remission (CR) was defined by a normal serum α-fetoprotein (AFP) level, no tumor detected on computed tomography, and negative pathology results. Biochemical CR (bCR) was defined by a normal serum AFP level. Long-term follow-up was completed according to our regulations.

Results The median age of patients at diagnosis was 10 months (range, 5–44 months), and all patients presented with abnormal vaginal bleeding and/or vaginal discharge. Serum αAFP is a sensitive tumor marker, and it was markedly elevated in all patients (median 4848 ng/mL; baseline at our hospital is <20 ng/mL). Thirteen patients completed a chemotherapy regimen consisting of PEB alone without surgery. Importantly, all patients achieved CR. Patients received additional cycles of consolidation chemotherapy after bCR and there are no cases of recurrence to date.

Conclusions We propose a contemporary treatment strategy in line with current practice. First, all suspected cases of vaginal YST should be diagnosed by histopathological examination and serum AFP levels. Second, nonsurgical treatment with PEB chemotherapy should be initiated until patients achieve bCR, followed by an additional 2 cycles of consolidation therapy to optimize results and reduce the risk of remission.