Li-Fraumeni综合征伴单侧桥小脑角区病变1例报告及文献回顾

Objective ?To summarize the clinical characteristics of a case of Li-Fraumeni syndrome with unilateral cerebellopontine lesion, and to explore the treatment and family management of Li-Fraumeni syndrome. Methods ?The clinical manifestations, pathological features, gene detection and pedigree analysis of a patient with Li-Fraumeni syndrome complicated with vestibular schwannoma were retrospectively analyzed, and the related literatures were reviewed. Results ?A female patient, 52 years old, presented with no obvious cause for the onset of orofacial tilt and a right frontal lobe occupying lesion suggested by cranial MRI. Under general anesthesia, magnetic resonance-guided right frontal glioma resection was performed. Integrated postoperative pathological diagnosis : glioblastoma, WHO grade IV, IDH wild type with TERT?promoter ( C250T?). TP53?germline mutation c.637 ( exon6 ) C > T was detected in the peripheral blood of the patient, which was a truncated mutation. The final patient was diagnosed with Li-Fraumeni syndrome and his family line was diagnosed as a Li-Fraumeni syndrome family line. Conclusions ?Li-Fraumeni syndrome (LFS) is an inherited tumor syndrome with autosomal dominant inheritance, and mutations in the TP53?gene are the most common pathogenic mutations in Li-Fraumeni syndrome.