Li-Fraumeni syndrome presenting with temporomandibular chondroblastic osteosarcoma following recurrent glioma.
Sujeeth Kumar Shetty, Sonakshi Prakash, Devika M Krishna
✦ AI-curated · Sources linked
Case in brief
A man in his 20s with a history of recurrent glioma presented with rapid-onset trismus and swelling in the left temporomandibular region. Imaging showed condylar destruction and a mineralised mass, leading to a biopsy that indicated chondroblastic osteosarcoma. Germline testing revealed Li-Fraumeni syndrome due to a pathogenic TP53 variant. He underwent extensive surgical resection and reconstruction.
Diagnostic / clinical pearl
This case highlights the importance of considering germline testing for Li-Fraumeni syndrome in young patients with multiple primary malignancies.
Why it matters
Understanding the genetic basis of multiple malignancies can guide management and surveillance strategies in affected individuals.