A young adult patient with Li-Fraumeni syndrome-associated glioblastoma: Case discussion and literature review

Li-Fraumeni syndrome is an autosomal dominant cancer predisposition syndrome caused by germ line alterations in the tumor suppressor gene TP53, with an incidence of 1 in 5000–1 in 20,000. Li-Fraumeni syndrome is associated with numerous malignancies, including astrocytoma. Here, we report the case of a female patient diagnosed with glioblastoma in the right temporal lobe at the age of 22 years. She was treated with surgery followed by radiation and chemotherapy and achieved a complete response. Not surprisingly, the patient relapsed 7 years later and underwent a second surgery and radiation concurrent with temozolomide followed by chemotherapy with various agents. The patient currently remains tumor-free. Genetic testing revealed that the tumor contained a germ line mutation of TP53 (p.R282W). Pertinent family history included a mother who suffered from leukemia. Therefore, given the patient's medical and family history, we consider this is a case of Li-Fraumeni syndrome associated with glioblastoma. The ethics approval is not applied since the case was in consultation with experts arranged through meeting organizer.