Recurrent uterine adenofibroma revealed to be hyperparathyroidism-jaw tumor syndrome: Case report

Uterine adenofibroma was previously classified as a benign mixed epithelial and mesenchymal tumor, but the WHO removed it from its fifth edition due to diagnostic overlap with low-grade adenosarcoma or benign polyps. We report a case of a 21-year-old woman with a recurrent uterine polypoid tumor initially diagnosed as adenofibroma on biopsy and resected multiple times. MRI revealed heterogeneous intrauterine masses with cystic changes, and PET-CT showed weak FDG uptake. Eventually, hysterectomy confirmed adenofibroma. She also had a prior diagnosis of primary hyperparathyroidism caused by parathyroid adenoma. Due to the early onset and recurrent uterine tumors, hyperparathyroidism-jaw tumor syndrome (HPT-JT) was suspected. Immunohistochemistry showed loss of parafibromin expression in the uterine tumor, supporting the diagnosis. This case highlights the importance of considering genetic syndromes such as HPT-JT in young patients with recurrent uterine tumors, enabling appropriate surveillance for associated neoplasms in the parathyroid, jaw, and kidneys.