[Clinicopathological analysis of 18 cases of ovarian juvenile granulosa cell tumor].
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Objective: To investigate the clinicopathological features, treatment strategies and long-term follow-up of ovarian juvenile granulosa cell tumor (JGCT), and to provide evidence for clinical accurate diagnosis and individualized treatment. Methods: The clinicopathological data of 18 patients with JGCT diagnosed by surgery in Obstetrics and Gynecology Hospital, Fudan University from February 2009 to July 2025 were collected, and their clinical features, pathological molecular characteristics and prognosis were descriptively analyzed. Results: The median age at diagnosis was 14 years (range: 5-30 years). Two patients (2/18) were prepubertal (<10 years), twelve (12/18) were pubertal (10-19 years), and four (4/18) were post-pubertal (≥20 years). The main clinical manifestations of 17 patients who were first diagnosed in our hospital were abnormal vaginal bleeding (8 cases, 8/17), abdominal pain and distension (6 cases, 6/17) and pelvic mass (3 cases, 3/17). Imaging examination showed that the median maximum diameter of the tumor was 10 cm (range: 5-37 cm), and ascites or pelvic effusion was present in 5 cases. Carbohydrate antigen 125 (CA125) level was >35.0 kU/L in 7 cases. All patients underwent fertility-preserving surgery and were classified as International Federation of Gynecology and Obstetrics (FIGO) stage Ⅰ [stage Ⅰa in 10 cases (10/18); stage Ⅰc in 8 cases (8/18)]. Six patients received platinum-based adjuvant chemotherapy after surgery, including 5 cases of BEP regimen (bleomycin+etoposide+cisplatin) and 1 case of PVB regimen (cisplatin+vincristine+bleomycin). Pathological examination showed that the tumors were unilateral in all cases, 8 cases (8/18) on the left side and 10 cases (10/18) on the right side. Macroscopically, the tumors were predominantly solid or cystic-solid. Microscopically, the tumors were mainly manifested as diffuse lamellar or multinodular solid tumors with variable number and size of follicular structures, and the follicular cavity was filled with basophilic or eosinophilic secretion. The cytoplasm was abundant with variable mitotic figures. Immunohistochemical staining showed that more than one sex cord mesenchymal marker was positive in all cases, epithelial membrane antigen (EMA) was negative, and cell proliferation-associated nuclear antigen (Ki-67) index was 5%-60%. Molecular analysis identified wild-type FOXL2 and DICER1 hotspot mutations in seven cases. One patient with recurrence harbored a TP53 nonsense mutation and a CDKN2A missense mutation, confirming anaplastic JGCT. The median follow-up time was 75.6 months (range: 4.1-201.4 months). One patient (1/18) developed pelvic and abdominal metastasis 23 months after the initial surgery. Among the 6 patients with premenarche, 4 patients had regular menstruation after surgery, and the other 2 patients were still young. The menstruation of patients with irregular menstruation before operation returned to normal after surgery. Two cases gave birth successfully after surgery. One patient who developed the disease during pregnancy experienced menopause 12 years after surgery. Conclusions: JGCT primarily affects females under 30 years old, and most of them are FIGO stage Ⅰ low-grade malignant tumors. Fertility-sparing surgery is associated with favorable outcomes. Some tumors appear purely cystic, which can lead to misdiagnosis. Anaplastic JGCT, harboring TP53 mutations, demonstrates aggressive clinical behavior. A comprehensive diagnostic approach integrating pathology, immunophenotype, and molecular features is therefore essential to guide personalized treatment and follow-up.