Abstract :
We report a case of Li Fraumeni Syndrome (LFS), where our patient was affected by two malignancies before the age of 30: chondroblastic osteosarcoma and unilateral breast ductal carcinoma in situ. Her daughter was diagnosed with adrenocortical carcinoma at the age of four, and her mum was diagnosed with cervical cancer when she was in her 20’s. After her daughter’s cancer diagnosis, she and her family members underwent genetic testing. She and her daughter were found to have Tumour Protein 53 gene (TP53) mutation suggestive for Li Fraumeni Syndrome (LFS). Patients with LFS should be managed with a surveillance program with minimal exposure to radiation therapy due to their high risk for second primary cancer. This report will make the clinician aware of this syndrome for early diagnosis and management.
Keyword :
Li Fraumeni Syndrome (LFS), Breast cancer, Osteosarcoma, Surgery, Gene testing