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.