Background:
To report the surgical treatment of craniofacial fibrous dysplasia (CFD) with TP53 gene mutation.
Methods:
The patient was diagnosed with CFD by surgery at the age of 14 years. At the age of 35 years, the tumor recurred, and the patient took active treatment. The tumor was resected 4 times by neuroendoscopy due to recurrence in a short period. Meanwhile, genetic tests were performed on the patient. The patient’s postoperative pathology indicated leiomyosarcoma and genetic testing indicated TP53 gene mutation.
Results:
Despite the active surgical treatment, the patient finally died of a malignant tumor. The prognosis of patients with CFD malignancy accompanied by TP53 gene mutation is poor, and its treatment is difficult.
Conclusions:
The prognostic benefit of surgical treatment for patients with CFD malignancy is limited. It is hoped that more genetic mutations will be identified and reported in patients with CFD malignancy, and long-term follow-up is necessary for patients with current fibrous dysplasia or CFD.