Question

A 9-year-old boy presents with a painful left distal femur mass depicted in Figure A for the last few months. He undergoes genetic testing and is found to have a p53 inactivating mutation.

Answer 1

The student's question relates to Li-Fraumeni syndrome (LFS1), a condition resulting from a p53 inactivating mutation that leads to a predisposition to various cancers. The child's distal femur mass can be associated with bone malignancies common in LFS, necessitating further medical intervention and genetic counseling.

Step-by-step explanation:

The student's question concerns a 9-year-old boy with a painful mass on his left distal femur and a p53 inactivating mutation, which is indicative of Li-Fraumeni syndrome (LFS1). Li-Fraumeni syndrome is a hereditary condition that dramatically increases the risk of developing various types of cancer due to mutations in the TP53 gene, which encodes the tumor suppressor protein p53. This protein plays a critical role in cellular responses to DNA damage by inducing cell cycle arrest, DNA repair, or apoptosis.

The presentation of a distal femur mass in a child with a p53 mutation suggests the need for thorough medical evaluation as it can be associated with bone malignancies like osteosarcoma, which are common in individuals with LFS. Treatment strategies commonly involve surgery to remove the tumor, chemotherapy, and in some cases, radiation therapy. Genetic counseling is also recommended for the patient and family due to the hereditary nature of the syndrome.