Juvenile Granulosa Cell Tumor as the Presenting Feature of McCune-Albright Syndrome

Abstract

Introduction GNAS mutations have been reprted in both McCune-Albright Syndrome (MAS) and juvenile granulosa cell tumors (JGCT), but have never been reported simultaneously in the same patient. Case Presentation A 15-year-old girl developed secondary oligomenorrhea. Laboratory studies revealed suppressed gonadotropin levels with markedly elevated estradiol and inhibin B levels. Pelvic ultrasound showed a 12-cm heterogeneous right adnexal mass; pelvic MRI to further characterize the mass displayed heterogeneous bilateral femoral bone lesions initially concerning for metastatic disease. PET/CT showed minimal fluorodeoxyglucose (FDG) uptake in the pelvic mass, but unexpectedly revealed FDG uptake throughout the skeleton, concerning for polyostotic fibrous dysplasia in the context of McCune-Albright Syndrome (MAS). The adnexal mass was excised and pathology confirmed a juvenile granulosa cell tumor (JGCT). The patient’s affected bone and JGCT tissue revealed the same pathogenic GNAS p.R201C mutation, while her peripheral blood contained wild type arginine at codon 201. Conclusion This mutation has been previously reported in cases of MAS and JGCT, but never simultaneously in the same patient. This demonstration of a GNAS mutation underlying both JGCT and MAS in the same patient raises questions about appropriate surveillance for patients with these conditions.

Ovarian Yolk Sac Tumor in a 13-year-old Girl with McCune-Albright Syndrome

“…[4] Only one patient was reported with ovarian juvenile granulosa cell tumor in literature, which is also a kind of rare pediatric ovarian tumor. [5] Based on the treatment principle of ovarian yolk sac tumor, fertility-sparing surgery including resection of the affected ovary and fallopian tube may be appropriate. [12] This patient responded well to fertility sparing surgery with adjuvant chemotherapy, and remained tumor free at two years surveillance.…”

“…Ovarian malignancies are not a commonly recognized component of the phenotype of MAS. [1,5] Here we report a patient who was found to have both MAS and an ovarian yolk sac tumor. Somatic GNAS mutations have been reported in several different types of tumors, but not in ovarian yolk sac tumor.…”