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.