Abstract ID: 26-233
Early-onset eyelid sebaceous carcinoma in Li-Fraumeni syndrome: a case report and literature review
Author: Han Eul Lee Base Hospital / Institution: Seoul National University Bundang Hospital / Department of Ophthalmology
Presentation Type: ePoster Presentation
Purpose
To report early-onset eyelid sebaceous carcinoma in Li-Fraumeni syndrome and to highlight clinical features that should prompt hereditary cancer evaluation.
Methods
Single case report with focused review of the literature. Clinical presentation, histopathology, mismatch repair immunohistochemistry, pedigree, germline TP53 testing by hereditary cancer multigene panel, surgical management, and follow-up were reviewed.
Results
A 36-year-old woman presented with an 18-month history of a slowly enlarging left lower eyelid lesion. Examination showed a pale, firm nodular lid-margin lesion with a yellow tarsal base on eversion. After two failed laser excisions elsewhere, biopsy confirmed sebaceous carcinoma. Her oncologic history included acute promyelocytic leukemia at 29 years, glioblastoma at 33 years, and parotid mucoepidermoid carcinoma at 34 years. Wide excision with frozen-section control was followed by Hughes flap and myocutaneous advancement flap reconstruction. Histopathology confirmed sebaceous carcinoma, AJCC 8th edition pT1bNx, 0.8 × 0.4 × 0.4 cm, with 2.6 mm invasion and no lymphovascular or perineural invasion. MLH1, MSH2, MSH6, and PMS2 showed intact nuclear expression. Multigene panel testing identified a heterozygous pathogenic germline TP53 variant, c.734G>T (p.Gly245Val), confirming Li-Fraumeni syndrome. No local recurrence was seen at follow-up on 22 December 2025.
Conclusion
Sebaceous carcinoma of the eyelid is unusual in younger patients and has rarely been reported in Li-Fraumeni syndrome. Early-onset eyelid sebaceous carcinoma, especially with multiple malignancies or a suggestive family history, should prompt hereditary cancer evaluation. Early recognition of Li-Fraumeni syndrome enables genetic counselling and surveillance. This case expands the ocular adnexal spectrum of TP53-related cancer predisposition and, to our knowledge, represents the first genetically confirmed Asian case of eyelid sebaceous carcinoma associated with Li-Fraumeni syndrome reported in the English-language literature.
Additional Authors
| First name | Last name | Base Hospital / Institution |
|---|---|---|
| Namju | Kim | Seoul National University Bundang Hospital / Department of Ophthalmology |