Introduction
First described by Li and Fraumeni in 1969, LFS is a hereditary neoplastic predisposition syndrome1. It is commonly caused by germline TP53 pathogenic mutation which is a multifunctional transcription factor that serves to control cellular proliferation and plays a pivotal role in tumorigenesis2,3.
Germline TP53 mutation confers a nearly 100 % cumulative risk of cancer in females, and about 70% cumulative risk of cancer in males by age 504. There is also a significantly higher risk of childhood cancers associated with LFS, with an 18 % risk of developing cancer in females and 10% risk of developing cancer in males by age 204,5. The majority of cancers in those with LFS consist of core cancers which include breast cancer, bone and soft tissue sarcomas (specifically osteosarcomas and rhabdomyosarcomas), CNS tumors, adrenocortical tumors, and leukemia6-8.
CNS tumors such as choroid plexus carcinomas and medulloblastomas are also primary malignancies of LFS8. Specifically, anaplastic medulloblastoma is a known primary malignancy of LFS8. To our knowledge, there are no known reported cases of secondary anaplastic medulloblastomas. We hereby present the case of a pediatric patient who developed an asymptomatic secondary anaplastic medulloblastoma after undergoing successful treatment for his primary osteosarcoma.