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Peer-reviewedCC BY-NC-NDAmerican Journal of Ophthalmology Case Reports

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

  • Li Lyung Wang1
  • Songji Choi2
  • Hyunji Kim3
  • Hyun Jung Kwon4
  • Namju Kim5
5 affiliations
  1. 1Department of Ophthalmology, Seoul National University Bundang Hospital, Seongnam, South Korea
  2. 2Department of Genomic Medicine, Seoul National University Bundang Hospital, Seongnam, South Korea
  3. 3Department of Genomic Medicine, Seoul National University Bundang Hospital, Seongnam, South Korea; Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, South Korea
  4. 4Department of Pathology, Seoul National University Bundang Hospital, Seongnam, South Korea
  5. 5Department of Ophthalmology, Seoul National University Bundang Hospital, Seongnam, South Korea; Department of Ophthalmology, Seoul National University College of Medicine, Seoul, South Korea; Corresponding author. Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University College of Medicine 82 Gumi-ro 173beon-gil, Bundang-gu, Seongnam, 13620, South Korea.
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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.

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Cite

BibTeXRIS
BibTeX
@article{wang2026lifraumeni,
  title = {{Li-Fraumeni syndrome presenting with early-onset eyelid sebaceous carcinoma}},
  author = {Li Lyung Wang and Songji Choi and Hyunji Kim and Hyun Jung Kwon and Namju Kim},
  journal = {American Journal of Ophthalmology Case Reports},
  year = {2026},
  month = oct,
  doi = {10.1016/j.ajoc.2026.102689},
  url = {https://doi.org/10.1016/j.ajoc.2026.102689},
  note = {CC BY-NC-ND},
}
RIS
TY  - JOUR
TI  - Li-Fraumeni syndrome presenting with early-onset eyelid sebaceous carcinoma
AU  - Li Lyung Wang
AU  - Songji Choi
AU  - Hyunji Kim
AU  - Hyun Jung Kwon
AU  - Namju Kim
PY  - 2026
DA  - 2026/10/16
JO  - American Journal of Ophthalmology Case Reports
DO  - 10.1016/j.ajoc.2026.102689
UR  - https://doi.org/10.1016/j.ajoc.2026.102689
AB  - 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.
SN  - 2451-9936
ER  -