Preservation of fertility in a young woman with Li-Fraumeni syndrome: a case report
DOI:
https://doi.org/10.29289/2594539420250039%20Keywords:
Li-Fraumeni syndrome, breast neoplasms, fertility preservationAbstract
Li-Fraumeni syndrome (LFS) is the term given to the mutation of the TP53 gene associated with the development of neoplasms, often at an early age. The following case report describes a 26-year-old female patient diagnosed with invasive breast carcinoma of no special type, with confirmation of a pathogenic mutation in the TP53 gene (R337H variant), consistent with LFS. In view of the oncologic diagnosis and the patient’s reproductive desire, and considering the need for cancer treatment with potentially gonadotoxic drugs, oocyte cryopreservation was performed using a random-start ovarian stimulation protocol, combining hormonal agents and aromatase inhibitors to ensure safe hormonal control in the oncologic context. The patient underwent neoadjuvant chemotherapy followed by bilateral adenomastectomy, with subsequent multidisciplinary follow-up. This case underscores the importance of integrated management involving oncology, genetics, and reproductive medicine in young patients with hereditary cancer, highlighting the need for universal access to fertility preservation strategies, particularly within public health systems.
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2. Petry V, Bonadio RC, Testa L, Cohn DJ, Cagnacci A, Campos RG, et al. A matched case-control study of the prognosis of early breast cancer in patients with Li-Fraumeni syndrome (BREAST TP53). Breast. 2023;68:157-62. https://doi.org/10.1016/j.breast.2023.02.002
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6. Kumamoto T, Yamazaki F, Nakano Y, Tamura C, Tashiro S, Hattori H, et al. Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1. Int J Clin Oncol. 2021;26(12):2161-78. https://doi.org/10.1007/s10147-021-02011-w
7. Achatz MI, Olivier M, Le Calvez F, Martel-Planche G, Lopes A, Rossi BM, et al. The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. Cancer Lett. 2007;245(1-2):96-102. https://doi.org/10.1016/j.canlet.2005.12.039
8. Warner E, Glass K, Foong S, Sandwith E. Update on fertility preservation for younger women with breast cancer. CMAJ. 2020;192(35):E1003-E1009. https://doi.org/10.1503/cmaj.200245
9. Marklund A, Lundberg FE, Eloranta S, Hedayati E, Pettersson K, Rodriguez-Wallberg KA. Reproductive outcomes after breast cancer in women with vs without fertility preservation. JAMA Oncol. 2021;7(1):86-91. https://doi.org/10.1001/jamaoncol.2020.5957
1. Malkin D. Li-fraumeni syndrome. Genes Cancer. 2011;2(4):475-84. https://doi.org/10.1177/1947601911413466
2. Petry V, Bonadio RC, Testa L, Cohn DJ, Cagnacci A, Campos RG, et al. A matched case-control study of the prognosis of early breast cancer in patients with Li-Fraumeni syndrome (BREAST TP53). Breast. 2023;68:157-62. https://doi.org/10.1016/j.breast.2023.02.002
3. Comitê de Prática da Sociedade Americana de Medicina Reprodutiva. Preservação da fertilidade em pacientes submetidas a terapia gonadotóxica ou gonadectomia: parecer de um comitê. Fertil Esteril. 2019;112(6):1022-33. https://doi.org/10.1016/j.fertnstert.2019.09.013
4. Brasil. Ministe´rio da Saúde. Estimativa 2023: incidência do câncer no Brasil [Internet]. Brasília: Instituto Nacional de Câncer; 2022 [cited on 2025 Mar 13]. Available from: https://www.gov.br/inca/pt-br/assuntos/cancer/numeros/estimativa
5. Evolução do número de casos de câncer de mama exige ações coordenadas [Internet]. Rio de Janeiro: Sociedade Brasileira de Mastologia; 2024 [cited 2025 Mar 14]. Available from: https://sbmastologia.com.br/para-a-populacao/evolucao-do-numero-de-casos-de-cancer-de-mama-exige-acoes-coordenadas/
6. Kumamoto T, Yamazaki F, Nakano Y, Tamura C, Tashiro S, Hattori H, et al. Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1. Int J Clin Oncol. 2021;26(12):2161-78. https://doi.org/10.1007/s10147-021-02011-w
7. Achatz MI, Olivier M, Le Calvez F, Martel-Planche G, Lopes A, Rossi BM, et al. The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. Cancer Lett. 2007;245(1-2):96-102. https://doi.org/10.1016/j.canlet.2005.12.039
8. Warner E, Glass K, Foong S, Sandwith E. Update on fertility preservation for younger women with breast cancer. CMAJ. 2020;192(35):E1003-E1009. https://doi.org/10.1503/cmaj.200245
9. Marklund A, Lundberg FE, Eloranta S, Hedayati E, Pettersson K, Rodriguez-Wallberg KA. Reproductive outcomes after breast cancer in women with vs without fertility preservation. JAMA Oncol. 2021;7(1):86-91. https://doi.org/10.1001/jamaoncol.2020.5957
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Copyright (c) 2026 Julia Morales Cozeto, Fernanda Cardoso Kinker, Giovanna Perea Cavinato, Millara Grazieli de Sá Cintra , Fabiano Affonso Kimus
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