Li-Fraumeni syndrome: case report
Keywords:
Li-Fraumeni Syndrome, Breast Neoplasms, Medical OncologyAbstract
Introduction: Li-Fraumeni syndrome is a rare, autosomal dominant disease, first described in the 1960s. Characterized by mutations in the p53 tumour protein gene, making the carrier more prone to developing neoplasms. It most often affects young women and the most prevalent neoplasms are breast cancer (most frequent), adrenocortical carcinoma (prevalent in children under 5), Central Nervous System (CNS) tumors, soft tissue sarcomas, osteosarcomas and leukemias. It has well-established diagnostic criteria in the medical literature and its diagnosis is confirmed by genetic mapping. Objective: To describe the case of a patient with Li-Fraumeni syndrome. Case Report: This is a case of a 33-year-old woman, diagnosed with bilateral breast carcinoma during an infertility investigation, who underwent bilateral mastectomy and adjuvant chemotherapy followed by hormone therapy. After two years, the patient had to give birth early due to a recent diagnosis of colorectal carcinoma. She was referred to a referral center for further investigation, where she was also diagnosed with lung carcinoma and melanoma in situ skin cancer. Genetic mapping was carried out and a diagnosis of Li-Fraumeni syndrome was made. Conclusion: Li-Fraumeni syndrome is a rare clinical and molecular condition that needs to be disseminated among health professionals for better management.
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Li FP, Fraumeni JF Jr. Rhabdomyosarcoma in children: epidemiologic study and identification of a familial cancer syndrome. J Natl Cancer Inst. 1969; 43(6):1365-73. DOI: 10.1093/jnci/43.6.1365.
Birch JM, Hartley AL, Tricker KJ, Prosser J, Condie A, Kelsey AM, et al. Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Research. 1994; 54(5):1298-304.
Bomfim ACS, Vasques CS, Silva CR, Peixoto CS, Souza JC, Gadelha SA, et al. Síndrome de Li-Fraumeni à luz da prática clínica do oncologista. Revista Científica Hospital Santa Izabel. 2022; 6(2):73-85. DOI: 10.35753/rchsi.v6i2.277.
Ferreira IB, Reis VHS, Toledo LFS, Neto LARM, Olavarria RC, Oliveira AGL, et al. Síndrome de Li-Fraumeni: uma abordagem diagnóstica, evolução clínica e revisão. Brazilian Journal of Health Review. 2023; 6(5):21395-401. DOI: 10.34119/bjhrv6n5-167.
Malkin D. Li-fraumeni syndrome. Genes Cancer. 2011; 2(4):475-84. DOI:10.1177/1947601911413466.
Gonzalez KD, Noltner KA, Buzin CH, Gu D, Wen-Fong CY, Nguyen VQ, et al. Beyond Li Fraumeni syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol. 2009; 27(8):1250-6. DOI: 10.1200/JCO.2008.16.6959.
Bougeard G, Renaux-Petel M, Flaman J-M, Charbonnier C, Fermey P, Belotti M, et al. Revisiting Li-Fraumeni syndrome from TP53 mutation carriers. J Clin Oncol. 2015; 33(21):2345-52. DOI: 10.1200/JCO.2014.59.5728.
Said BI, Kim H, Tran J, Novokmet A, Malkin D. Super-transactivation TP53 variant in the germline of a family with Li-Fraumeni syndrome. Hum Mutat. 2016; 37(9):889-92. DOI: 10.1002/humu.23025.
Gosanji B, Santo IDO, Keralyia A, Wang Y, Irugu D, Thomas R, et al. Li-Fraumeni syndrome: imaging features and guidelines. Radiographics. 2024; 44(8):e230202. DOI: 10.1148/rg.230202.
Chan CS. Prevalence and penetrance of Li-Fraumeni cancer predisposition syndrome. Current Opinion in Systems Biology. 2017; 1:48-53. DOI: 10.1016/j.coisb.2016.12.015.
Pinto FN, Prudente FVB, Gonçalves MS, Silva PDV, Giglio AD. Mutação do gene p53 induzindo predisposição hereditária ao câncer: relato de um caso da síndrome de Li-Fraumeni. Rev Med. 2002; 81(1/4):42-6. DOI: 10.11606/issn.1679-9836.v81i1-4p42-46.
Kumamoto T, Yamazaki F, Nakano Y, Tamura C, Tashiro S, Hattori H, et al. Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1. International Journal of Clinical Oncology. 2021; 26(12):2161-78. DOI: 10.1007/s10147-021-02011-w.
Lalloo F, Varley J, Ellis D, Moran A, O’Dair L, Pharoah P, et al. Prediction of pathogenic mutations in patients with early-onset breat cancer by family history. Lancet. 2003; 361(9363):1101-2. DOI: 10.1016/S0140-6736(03)12856-5.
Chompret A, Abel A, Stoppa-Lyonnet D, Brugiéres L, Pagés S, Feunteun J, et al. Sensitivity and predictive value of criteria for p53germline mutation screening. J Med Genet. 2001; 38(1):43-7. DOI: 10.1136/jmg.38.1.43.
Kratz CP, Steinke-Lange V, Spier I, Aretz S, Schröck E, Holinski-Feder E. Overview of the clinical features of Li-Fraumeni syndrome and the Current European ERN GENTURIS Guideline. Geburtshilfe Frauenheilkd. 2021; 82(1):42-9: DOI: 10.1055/a-1541-7912.
Frebourg T, Lagercrantz SB, Oliveira C, Magenheim R, Evans DG. Guidelines for the Li-Fraumeni and heritable TP53-related câncer syndromes. European Journal of Human Genetics. 2020; 28:1379-86. DOI: 10.1038/s41431-020-0638-4.
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Copyright (c) 2025 Paula Ferreira Pinheiro, Bárbara Bianchi Dias, Renato Takeshi Ishizava, Tony Maronesi Bagio, Paulo Gil Katsuda
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