# Metastatic Pheochromocytoma in a Patient With Li-Fraumeni Syndrome

## TL;DR

A patient with Li-Fraumeni syndrome developed metastatic pheochromocytoma, a rare occurrence in this genetic condition.

## Contribution

This case highlights the unusual manifestation of metastatic pheochromocytoma in a TP53-mutated individual.

## Key findings

- A TP53 pathogenic variant carrier developed metastatic pheochromocytoma.
- Pheochromocytoma is a rare manifestation of Li-Fraumeni syndrome.
- The case contributes to understanding the genomic landscape of PCCs/PGLs in TP53-mutated individuals.

## Abstract

Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome caused by genomic alterations in the tumor protein p53 (TP53) gene. The lifetime risk of developing cancer is very high, and carriers of germline TP53 pathogenic variants must be closely monitored starting from a young age. LFS is particularly associated with specific tumors, such as breast cancer, soft tissue and bone sarcomas, primary central nervous system cancers, acute leukemia, and adrenocortical carcinoma. Despite its association with a broad spectrum of malignancies, pheochromocytoma/paraganglioma (PCC/PGL) is an unusual manifestation of LFS and has only rarely been reported. Here, we present a case of a 57-year-old female patient who is a carrier of a deleterious germline TP53 pathogenic variant and developed a PCC; several years later, she had lung and bone lesions compatible with metastatic PCC. We also discuss the most recent literature regarding the genomic landscape of PCCs/PGLs and their pathogenesis in connection with TP53 pathogenic variants.