DOI: https://doi.org/10.14710/jbtr.v12i1.29571

Approach to Suspected Li-Fraumeni Syndrome: A Case Report in Genetic Counseling and Multidisciplinary Management

1Biomedical Sciences, Universitas YARSI, Indonesia

2Biochemistry Department, Medical Faculty, Universitas Sumatera Utara, Indonesia

3Department of Pathology Anatomy, Murni Teguh Memorial Hospital, Indonesia

4 Department of Radiation Oncology, Murni Teguh Memorial Hospital, Indonesia

5 Department of Head and Neck Surgery, Murni Teguh Memorial Hospital, Indonesia

6 Department of Neurosurgery, Murni Teguh Memorial Hospital, Indonesia

7 Department of Radiology, Murni Teguh Memorial Hospital, Indonesia

8 Genetic Research Center, Universitas YARSI, Indonesia

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Received: 29 Sep 2025; Revised: 24 Nov 2025; Accepted: 11 Dec 2025; Available online: 29 Apr 2026; Published: 30 Apr 2026.
Open Access Copyright (c) 2026 Journal of Biomedicine and Translational Research
Creative Commons License This work is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.

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Abstract

Background: Li-Fraumeni Syndrome (LFS) is a rare autosomal dominant hereditary cancer predisposition syndrome resulting from germline mutations in the TP53 gene on chromosome 17p13. It significantly increases the risk of various early-onset cancers, making early detection and diagnosis of LFS vital. This study underscores the importance of genetic counseling and multidisciplinary management in addressing the needs of individuals and families affected by LFS and optimizing patient outcomes.

Case Presentation: Case report of a 36-year-old male from Murni Teguh Hospital with suspected LFS, characterized by a rare and complex clinical course involving multiple primary tumors, glioblastoma multiforme (GM) and mandibular osteosarcoma (MO). Initial symptoms included a rapidly growing right mandibular mass, following neurological symptoms three months prior. Histopathological and immunohistochemical findings supported the diagnosis, with p53 overexpression indicating TP53 mutation. Family history and three generation pedigree revealed multiple early-onset cancers, fulfilling the criteria for suspected LFS.

Conclusion: This case emphasizes the importance of genetic counseling and multidisciplinary management in diagnosing and managing suspected LFS. Proactive cancer surveillance and individualized care strategies are critical to mitigating risks and improving outcomes for patients and families affected by hereditary cancer syndromes.

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Keywords: Li-Fraumeni Syndrome, TP53 mutation, genetic counseling, hereditary cancer syndromes, cancer surveillance.
Funding: Murni Teguh Memorial Hospital

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Section: Case Reports
Language : EN
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