Li-Fraumeni syndrome presenting with early-onset eyelid sebaceous carcinoma
Related Experiment Video
Updated: Oct 31, 2026
Anterior High-Resolution Optical Coherence Tomography in the Diagnosis and Therapeutic Monitoring of Ocular Surface Squamous Neoplasia
Published on: August 9, 2024
Li Lyung Wang1, Songji Choi2, Hyunji Kim2,3
1Department of Ophthalmology, Seoul National University Bundang Hospital, Seongnam, South Korea.
Purpose:
To report a rare case of Li-Fraumeni syndrome (LFS) presenting with early-onset eyelid sebaceous carcinoma in an Asian patient.
Observations:
A 36-year-old Korean woman presented with a gradually enlarging left lower eyelid mass. Biopsy confirmed sebaceous carcinoma. Her medical history included acute promyelocytic leukemia at age 29, glioblastoma at age 33, and parotid gland cancer at age 34. Wide excision with flap reconstruction was performed, and immunohistochemistry excluded Muir-Torre syndrome. Genetic testing revealed a heterozygous pathogenic germline TP53 variant, establishing the diagnosis of LFS.
Conclusions:
This is an Asian case of eyelid sebaceous carcinoma associated with genetically confirmed LFS. It expands the tumor spectrum of LFS and highlights the need to consider genetic counseling and testing in young patients presenting with sebaceous carcinoma, particularly when accompanied by multiple primary malignancies or a relevant family history. Early recognition of LFS is essential for personalized management and surveillance of both patients and at-risk relatives.
Related Concept Videos
01:20The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
01:20The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...