The features of acute lymphocytic leukemia with intracranial germinoma in a patient with Li-Fraumeni syndrome: a case description

[摘要] Germline pathogenic mutations in the Protein p53(TP53) gene can be detected in 70–80% of Li-Fraumenisyndrome (LFS) patients. Common tumors in LFS patientsinclude premenopausal breast cancer, bone and softtissue sarcomas, central nervous system (CNS) tumors,leukemia, and adrenocortical carcinomas (1,2). In LFSpatients, the risk of developing a second tumor is 57%,and the risk of developing a third tumor is 38% (3). Inchildren with LFS, the incidence of CNS tumors, includingglioblastomas and other gliomas, choroid plexus papillomas,medulloblastomas, and ependymomas, is approximately81%, while the incidence of hematological tumors, suchas diploid acute lymphoblastic leukemia (ALL), acutemyelocytic leukemia, and myelodysplastic syndrome, is onlyabout 4% (3,4). In a study involving 3,801 children withALL, LFS-ALL accounted for <1% of the ALL cases (5).To date, intracranial germinoma in LFS has rarely beenreported.

[学科分类] 外科医学