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MDT CASE DISCUSSION
Year : 2020  |  Volume : 3  |  Issue : 2  |  Page : 71-75

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


1 Department of Pathology, School of Basic Medical Sciences, Peking University Third Hospital, Peking University Health Science Center, Beijing, China
2 Department of Radiation Oncology, Peking University Third Hospital, Peking University Health Science Center, Beijing, China
3 Department of Radiology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, Guangdong Province, China
4 Department of Neurosurgery/Neuro-Oncology, Sun Yat-sen University Cancer Center, Guangzhou, Guangdong Province, China
5 Department of Anatomical and Cellular Pathology, The Chinese University of Hong Kong, Hong Kong Special Administrative Region, China
6 Department of Radiation Oncology, Sun Yat-sen University Cancer Center, Guangzhou, Guangdong Province, China

Correspondence Address:
Prof. Qing Chang
Department of Pathology, School of Basic Medical Sciences, Peking University Third Hospital, Peking University Health Science Center, Beijing
China
Dr. Zhong-ping Chen
Department of Neurosurgery/Neuro.Oncology, Sun Yat-sen University Cancer Center, Guangzhou, Guangdong Province
China
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/glioma.glioma_17_20

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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.


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