PDF(Pubmed)
Abstract：
Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with a high, lifetime risk of a broad spectrum of cancers caused by pathogenic germline TP53 mutations. Numerous different germline TP53 mutations have been associated with LFS, which has an exceptionally diverse clinical spectrum in terms of tumor type and age of onset. Our patient has developed six asynchronous tumors to date: a phyllode tumor of the breast, a pheochromocytoma, a rosette-forming glioneuronal tumor (RGNT), an adrenocortical carcinoma (ACC), a ductal carcinoma of the breast, and a thymoma. The occurrence of such a number of rare tumors is sporadic even among in the population of patients living with cancer predisposition syndromes. In this instance, the omission of pretest genetic counseling and thorough family tree analysis prior to selecting the test led to the oversight of an underlying TP53 likely pathogenic mutation (classified as Class 4). This emphasizes the necessity for such counseling to prevent overlooking crucial genetic information. Neglecting this step could have had profound implications on the patient\'s treatment, particularly considering the early onset and occurrence of multiple tumors, which typically raise suspicion of a hereditary component. The implications for family members must be considered.
摘要：
Li-Fraumeni综合征（LFS）是一种癌症易感性综合征，由致病性种系TP53突变引起的广谱癌症的终生风险。许多不同的种系TP53突变与LFS相关，在肿瘤类型和发病年龄方面具有异常多样化的临床范围。迄今为止，我们的患者已经发展了六种异步肿瘤：乳腺叶状肿瘤，嗜铬细胞瘤,玫瑰花结形成的神经胶质细胞肿瘤（RGNT），肾上腺皮质癌（ACC），乳腺导管癌,还有胸腺瘤.即使在患有癌症易感性综合征的患者人群中，这种罕见肿瘤的发生也是零星的。在这种情况下，在选择测试前遗漏了测试前的遗传咨询和全面的家谱分析,导致对TP53潜在致病突变(分类为4类)的疏忽.这强调了这种咨询的必要性，以防止忽视关键的遗传信息。忽视这一步可能会对患者的治疗产生深远的影响，特别是考虑到多发性肿瘤的早期发作和发生，这通常会引起对遗传成分的怀疑。必须考虑对家庭成员的影响。
