May 2025

ENDOCRINOLOGY

RARE ENDOCRINE NEOPLASMS IN LI-FRAUMENI SYNDROME

Featuring: ​Ioannis G. Papagiannis, MD and ​Jared G. Friedman, MD
Ioannis G. Papagiannis, MD, and Jared G. Friedman, MD, discuss a unique case of a patient with Li-Fraumeni syndrome who presented with jaw osteosarcoma, papillary thyroid cancer and pituitary Cushing's — conditions not typically linked to the syndrome. They highlight the complexities of managing such a case and the importance of a multidisciplinary approach. Dr. Papagiannis and Dr. Friedman delve into the evolving recommendations for surveillance in patients with Li-Fraumeni syndrome, which may lead to early tumor detection, less invasive treatment options and improved outcomes. This case study underscores the necessity of coordinated care teams to navigate the different presentations.
​Ioannis G. Papagiannis, MD, Assistant Professor of Endocrinology at Northwestern Medicine
Jared G. Friedman, MD, Assistant Professor of Endocrinology at Northwestern Medicine

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