Simultaneous Detection of 2 Types of Malignancies in a Pediatric Patient on FDG PET/CT Led to Diagnosis of Li-Fraumeni Syndrome

Abstract

A 17-month-old girl underwent FDG PET/CT to evaluate a right adrenal lesion, which showed abnormal 18 F-FDG avidity. In addition, an unexpected lesion with mild 18 F-FDG uptake was noted in the right anterior thoracic wall. Pathology demonstrated adrenocortical carcinoma in the right adrenal and rhabdosarcoma in both the left forearm and right anterior thoracic wall. Gene analysis confirmed the diagnosis of Li-Fraumeni syndrome. The present case emphasized FDG PET/CT value of showing simultaneously multiple lesions in Li-Fraumeni syndrome, especially in the early stage without the gene analysis result.