Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome
Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome
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DOI：
10.1158/1078-0432.ccr-17-0408
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发表时间：
2017-06-01
影响因子：
11.5
通讯作者：
Malkin, David
中科院分区：
文献类型：
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作者：
Kratz, Christian P.;Achatz, Maria Isabel;Malkin, David
Li-Fraumeni综合征（LFS）是一种常染色体显性遗传疾病，由编码p53的TP 53肿瘤抑制基因的种系突变引起，p53是一种转录因子，作为针对不同应激源的保护性细胞机制而触发。p53功能的丧失使得受影响的个体对广泛的实体癌和血液癌高度易感。最近已经证明，LFS儿童和成人受益于旨在早期肿瘤检测的强化监测。2016年10月，美国癌症研究协会召开了一次国际LFS专家会议，评估目前对LFS的认识，并提出共识监测建议。在此，我们简要总结了这种侵袭性癌症易感综合征的临床和遗传方面。此外，专家小组得出结论，有足够的现有数据建议，一旦确定临床或分子LFS诊断，应立即为所有LFS患者提供癌症监测。具体来说，专家组建议采用“多伦多方案”的修改版本，其中包括体格检查、血液检查和成像的组合。该小组还建议促进进一步研究，以探索这些适应风险的监测和癌症预防策略的可行性和有效性，同时解决LFS个人和家庭的心理社会需求。(C)2017年AACR。
Li-Fraumeni syndrome (LFS) is an autosomal dominantly inherited condition caused by germline mutations of the TP53 tumor suppressor gene encoding p53, a transcription factor triggered as a protective cellular mechanism against different stressors. Loss of p53 function renders affected individuals highly susceptible to a broad range of solid and hematologic cancers. It has recently become evident that children and adults with LFS benefit from intensive surveillance aimed at early tumor detection. In October 2016, the American Association for Cancer Research held a meeting of international LFS experts to evaluate the current knowledge on LFS and propose consensus surveillance recommendations. Herein, we briefly summarize clinical and genetic aspects of this aggressive cancer predisposition syndrome. In addition, the expert panel concludes that there are sufficient existing data to recommend that all patients with LFS be offered cancer surveillance as soon as the clinical or molecular LFS diagnosis is established. Specifically, the panel recommends adoption of a modified version of the "Toronto protocol" that includes a combination of physical exams, blood tests, and imaging. The panel also recommends that further research be promoted to explore the feasibility and effectiveness of these risk-adapted surveillance and cancer prevention strategies while addressing the psychosocial needs of individuals and families with LFS. (C) 2017 AACR.