{
  "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.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Ophthalmology, Seoul National University Bundang Hospital, Seongnam, South Korea",
    "Department of Genomic Medicine, Seoul National University Bundang Hospital, Seongnam, South Korea",
    "Department 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",
    "Department of Pathology, Seoul National University Bundang Hospital, Seongnam, South Korea",
    "Department 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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        0
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      "name": "Li Lyung Wang"
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    {
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        1
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      "name": "Songji Choi"
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        2
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      "name": "Hyunji Kim"
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    {
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        3
      ],
      "name": "Hyun Jung Kwon"
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    {
      "affs": [
        4
      ],
      "name": "Namju Kim"
    }
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  "doi": "10.1016/j.ajoc.2026.102689",
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  "pmcid": "PMC13718836",
  "pmid": "42960272",
  "published": "2026-10-16",
  "publisher": "Elsevier",
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  "subjects": [
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  "title": "Li-Fraumeni syndrome presenting with early-onset eyelid sebaceous carcinoma",
  "title_text": "Li-Fraumeni syndrome presenting with early-onset eyelid sebaceous carcinoma",
  "type": "peer-reviewed",
  "updated_at": "2026-11-02T12:22:47Z",
  "url": "https://research.draconitic.com/paper/c867mrch9nbg4",
  "venue": "American Journal of Ophthalmology Case Reports",
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