Li-Fraumeni syndrome: cancer risk assessment and clinical management. Nat Rev Clin Oncol 2014;11:260-71.McBride KA, et al. Li-Fraumeni syndrome: cancer risk assessment and clinical management. Nat Rev Clin Oncol 2014;11(5):260-71.McBride KA, Ballinger ML, Killick E, Kirk J, Tattersall ...
(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综合征是一种遗传易感性肿瘤综合征,发病年龄早,肿瘤发生率高,呈常染色体显性遗传,以乳腺癌(女性绝经前乳腺癌)、骨与软组织肉瘤、中枢神经系统肿瘤和肾上腺皮质肿瘤等高肿瘤发病风险为特征,并且与白血病、黑色素瘤、胰腺癌、...
Li-Fraumeni syndrome is a cancer predisposition syndrome associated with soft tissue sarcoma, osteosarcoma, pre-menopausal breast cancer, brain tumors, adrenocortical carcinoma (ACC), and a variety of other neoplasms. Two forms are recognized: classic Li-Fraumeni syndrome (LFS) and Li-Fraumeni-like ...
#Li-Fraumeni综合征##Li-Fraumeni syndrome# 隔离家中,阅读文献,Li-Fraumeni综合征是一个很有意思的疾病,TP53基因突变会导致患者发生很多肿瘤,包括脑肿瘤,例如胶质瘤、髓母细胞瘤、脉络丛癌、乳腺癌等等,这个疾病是以两位发现者的名字命名的。Frederick Li 和Joseph Fraumeni, 下图是1991年他们两个人的合影;O网页...
Li-Fraumeni综合征是一种遗传易感性肿瘤综合征,发病年龄早,肿瘤发生率高,呈常染色体显性遗传,以乳腺癌(女性绝经前乳腺癌)、骨与软组织肉瘤、中枢神经系统肿瘤和肾上腺皮质肿瘤等高肿瘤发病风险为特征,并且与白血病、黑色素瘤、胰腺癌、胃癌、前列腺癌等多种肿瘤发病风险增加相关;TP53基因是最常见的Li-Fraumeni综合征相...
Li-Fraumeni Syndrome 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. Other cancers, including choroid ...
Li-Fraumeni Syndrome 来自 NCBI 喜欢 0 阅读量: 104 作者: D Malkin 摘要: Li-Fraumeni syndrome (LFS) is a classic cancer predisposition disorder that is commonly associated with germline mutations of the p53 tumor suppressor gene. Examination of the wide spectrum of adult-onset and childhood ...
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 familial cancer-predisposing syndrome, which is inherited in an autosomal dominant pattern. LFS patients often present with multiple primary tumors and an early age of onset. The lifetime risk of cancer is estimated to be 73 % for males and nearly 100 %...