Elremeli Mariam, Idaewor Philip, Rasheed Noreen, Saad Abdalla Al-Zawi Abdalla
Paediatrics-Allergy/Immunology, Imperial College London, London, GBR.
Histopathology/Cellular Pathology, Mid and South Essex National Health Service (NHS) Foundation Trust, Basildon, GBR.
Cureus. 2023 Sep 18;15(9):e45462. doi: 10.7759/cureus.45462. eCollection 2023 Sep.
Li-Fraumeni syndrome (LFS) is a rare inherited cancer susceptibility disorder with a wide tumour spectrum, particularly in children and young adults. Patients with LFS have life-long cancer risk, and the most commonly encountered tumours include soft tissue sarcoma, breast cancer, brain tumours, osteosarcoma, leukaemia and adrenocortical carcinoma. LFS is associated with mutations in the tumour suppressor gene andnearly two-thirds of families with LFS have this germline mutation. However, the diagnosis of LFS is currently based on recognised strict clinical criteria regardless of the genetic mutation status, as a few families with the clinical characteristics and cancer predisposition of LFS do not have mutations. Breast cancer is particularly significant among the common malignancies associated with LFS as it is the most common cancer in women worldwide. We present a case of a 27-year-old woman with unilateral breast cancer, in whom further history revealed a brain tumour at the age of 14 years. Due to the early onset of breast cancer and history of childhood malignancy, we suspected LFS. Genetic testing revealed a mutation, further suggesting the diagnosis of LFS. This has important implications in managing this patient's breast cancer, as the need for risk-reducing mastectomy and arranging a special surveillance programme. It also has great implications for the patient's family members, especially in terms of psychological impact, particularly when the mutation has been detected in children. Also, there is a need for periodic surveillance, which can help in early diagnosis and timely treatment with a more favourable outcome.
李-佛美尼综合征（LFS）是一种罕见的遗传性癌症易感性疾病，肿瘤谱广泛，尤其在儿童和年轻人中。LFS患者有终身患癌风险，最常见的肿瘤包括软组织肉瘤、乳腺癌、脑肿瘤、骨肉瘤、白血病和肾上腺皮质癌。LFS与肿瘤抑制基因突变有关，近三分之二的LFS家族有这种种系突变。然而，目前LFS的诊断基于公认的严格临床标准，而不考虑基因突变状态，因为一些具有LFS临床特征和癌症易感性的家族没有 突变。在与LFS相关的常见恶性肿瘤中，乳腺癌尤为显著，因为它是全球女性中最常见的癌症。我们报告一例27岁单侧乳腺癌女性病例，进一步询问病史发现其14岁时患过脑肿瘤。由于乳腺癌发病早且有儿童期恶性肿瘤病史，我们怀疑为LFS。基因检测发现 突变，进一步提示LFS的诊断。这对该患者乳腺癌的管理具有重要意义，因为需要进行降低风险的乳房切除术并安排特殊的监测计划。这对患者的家庭成员也有重大影响，尤其是在心理影响方面，特别是当在儿童中检测到突变时。此外，需要定期监测，这有助于早期诊断和及时治疗，从而获得更有利的结果。
