Chondroblastic osteosarcoma of maxilla, a patient with Li-Fraumeni syndrome



Year of publication 2018
Type Article in Periodical
Magazine / Source Česká a slovenská neurologie a neurochirurgie
MU Faculty or unit

Faculty of Medicine

Keywords chondroblastic osteosarcoma; Li-Fraumeni syndrome; jaw
Description Osteosarcoma of the jaw is a very rare and highly malignant tumor, which could be a manifestation of Li-Fraumeni syndrome - an inherited cancer syndrome characterized by a high frequency and wide spectr UM of early onset neoplasms. Incidence of jaw osteosarcorna is only about 0.07/100,000 per year. The tumor's stage and possibility of complete surgical removal have the biggest impact on patient prognosis. Because rare, osteosarcomas are often misdiagnosed initially, which delays treatment and worsens the prognosis. We present a 32-year-old female patient with Li-Fraumeni syndrome and initially misdiagnosed chondroblastic osteosarcoma. After incomplete resection and early local recurrence, which completely filled the defect after subtotal maxillectorny, we achieved curative response and more than 7 years disease-free survival with chemo-radiotherapy. Furthermore, we describe symptoms, diagnosis, and treatment of this rare disease, and also focus on Li-Fraumeni syndrome. Outcome of this case report disagrees with the widely held tenet that chemo-radiotherapy of osteosarcoma of the jaw is considered only a palliative treatment, unexpected response of some tumors to treatment, and the role of p53 mutations still are not clear and are the object of extensive investigations.

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