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...
LFS的定义: (1)命名:1988年,由美国医生 Frederick Pei Li 和 Joseph F. Fraumeni首次报道。 (2)机制:LFS是一种极罕见的癌症易感的家族性遗传病综合征,呈常染色体显性遗传,在人群中的发病率可高达1/20000。由来自于父母遗传或是发生...
5、Miranda Alcalde B, Villa Alcázar M, Martínez Romera I, López Ibor B. The importance of Li-Fraumeni syndrome, a hereditary cancer predisposition disorder. Arch Argent Pediatr. 2021;119(1):e11-e17. 6、Giacomazzi CR, G...
李-佛美尼综合征 李-佛美尼综合征(Li-Fraumeni syndrome):系指癌症的一个分类病症,它是以两位美国医生Frederick Pei Li 和Joseph F. Fraumeni,Jr 的名字命名的,这两位医生通过查阅648名儿童横纹肌肉瘤患者的医疗记录以及死亡证明等相关资料首次提出了李-佛美尼综合征。 李-佛美尼综合征是一种罕见的通过常染色体显性遗...
Li-Fraumeni综合征(LFS)由胚系TP53致病变异引起,占TP53突变SHH-MB病例的33%-56%。复发和继发肿瘤发生率的高度增加导致Li-Fraumeni综合征合并髓母细胞瘤(LFS-MB)患者预后不佳。放疗和DNA损伤剂被认为是继发恶性肿瘤的潜在原因,因此在LFS患者中使用它们需要在风险-收益评估中仔细权衡。
Li-Fraumeni Syndrome LFS can be defined as an inherited form of cancers caused by germline mutations of the TP53 gene; From:Encyclopedia of Cancer (Third Edition),2019 Tumor Biology and Tumor Markers Courtney M.TownsendJR., MD, inSabiston Textbook of Surgery, 2022...
李-佛美尼综合征(Li-Fraumeni syndrome):系指癌症的一个分类病症,它是以两位美国医生Frederick Pei Li 和Joseph F. Fraumeni,Jr 的名字命名的,这两位医生通过查阅648名儿童横纹肌肉瘤患者的医疗记录以及死亡证明等相关资料首次提出了李-佛美尼综合征。 李-佛美尼综合征是一种罕见的通过常染色体显性遗传的疾病综合征,...
Li-Fraumeni syndrome (LFS) is a rare autosomal dominant syndrome in which patients are predisposed to cancer due to mutations in the TP53 gene. [1] It is characterized by a wide variety of high-risk cancers that often present at a young age of onset. There is potential for multiple primar...
The Li-Fraumeni syndrome (LFS) is characterised by an autosomal dominant hereditary predisposition to cancer. Affected individuals suffer from sarcomas, breast and brain tumours, and adrenocortical carcinomas, but also from other types of tumours. The cancers may arise at an unexpectedly young age, ...
Li-Fraumeni syndrome (LFS) is an inherited familial predisposition to a wide range of certain, often rare, cancers. This is due to a change (mutation) in a tumor suppressor gene known as TP53. The resulting p53 protein produced by the gene is damaged (or otherwise rendered malfunctioning),...