Work

Li-Fraumeni syndrome presenting with early-onset eyelid sebaceous carcinoma

Year: 2026

Type: article

Abstract: 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.

Source: American Journal of Ophthalmology Case Reports

DOI: 10.1016/j.ajoc.2026.102689

Authors: Li Lyung Wang, Songji Choi, Hyunji Kim, Hyun Jung Kwon, Namju Kim

Institutions: Seoul National University, Seoul National University Bundang Hospital

Language: English

Topic: Ocular Oncology and Treatments

Subfield: Ophthalmology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,590