Kamihara Junne, Rana Huma Q, Garber Judy E
Division of Hematology/Oncology, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts.
Hum Mutat. 2014 Jun;35(6):654-62. doi: 10.1002/humu.22559.
Since its description by Li and Fraumeni over 40 years ago, Li-Fraumeni syndrome (LFS) remains one of the most striking familial cancer predisposition syndromes. Children and adults are affected by a wide array of cancers that occur predominantly at younger ages. This review discusses LFS, describes its association with TP53, and examines the classic and evolving definitions of the syndrome. The potential implications of multigene assessments of individuals at increased cancer risk, which have already begun to identify those with very little personal or family cancer history carrying germline TP53 mutations, are considered. Newer options in the management of individuals with LFS are also discussed, highlighting the importance of further clinical trials for cancer detection, prevention, and management. Finally, we observe how the clinical criteria for TP53 mutation screening appear to be evolving as our understanding of the impact of germline TP53 mutations continues to expand.
自40多年前由李和弗劳梅尼首次描述以来，李-弗劳梅尼综合征（LFS）仍然是最显著的家族性癌症易感综合征之一。儿童和成人都受到多种癌症的影响，这些癌症主要发生在较年轻的年龄段。本综述讨论了LFS，描述了其与TP53的关联，并审视了该综合征的经典定义和不断演变的定义。考虑了对癌症风险增加的个体进行多基因评估的潜在影响，这种评估已经开始识别那些个人或家族癌症病史极少但携带种系TP53突变的人。还讨论了LFS患者管理中的新选择，强调了进一步开展癌症检测、预防和管理临床试验的重要性。最后，我们观察到随着我们对种系TP53突变影响的理解不断扩展，TP53突变筛查的临床标准似乎也在不断演变。
