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...
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,...
Definition Li-Fraumeni syndrome (LFS) is a rare autosomal disorder characterized by a familial clustering of tumors, with a predominance of sarcomas, breast cancers, brain tumors and adrenocortical carcinomas, diagnosed before the age of 45 years. Other cancers, such as leukemia, lung cancer, ...
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...
(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在胚胎细胞上...
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 syndromeGermline TP53 mutationGermline CHK2 mutationLi鈥揊raumeni syndrome (LFS) has been the most common terminology used for the syndrome. It is a rare familial dominantly inherited cancer syndrome characterized by a wide spectrum of neoplasms occurring in children and young adults. ...
In 1969, a remarkable cancer predisposition syndrome was reported by Li and Fraumeni.[1]Li-Fraumeni syndrome (LFS) is an inherited autosomal dominant disorder that is usually associated with abnormalities in the tumor suppressor protein P53 gene (TP53) located on chromosome 17p13.[2]It is also...
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。
i-Fraumeni syndrome The Li-Fraumeni syndromeThe Li-Fraumeni syndromeFrebourgT.ingentaconnectBulletin Du Cancer