背景:脉络丛癌(CPCs)很少见,由于TP53种系突变,在与Li-Fraumeni综合征(LFS)相关的中枢神经系统侵袭性3级肿瘤中占很大比例。了解CPC和LFS之间的相关性对于量身定制的管理策略至关重要。然而,区分CPC和良性脉络丛乳头状瘤(CPP)仍然具有挑战性,很大程度上依赖于组织学特征。本研究旨在探讨CPC与LFS之间的关系,强调TP53突变对诊断的影响,治疗,和临床结果。
方法:科学数据库,如PubMed、Scopus,和WebofScience使用与CPC相关的关键词进行了系统搜索,直到2024年1月,LFS,TP53突变,和中枢神经系统肿瘤.选择标准包括调查CPC和LFS之间联系的研究,他们的管理方法,和TP53突变的遗传意义。筛选标题后,选择了10项相关研究进行分析,摘要,和全文文章。数据提取侧重于临床,遗传,以及与LFS相关的CPC相关的管理因素。
结果:评论强调了CPC和LFS之间的强关联(36%),主要是由于TP53种系突变。研究强调了对CPC患者进行基因检测的必要性,尤其是在儿科病例中,确定LFS的影响。此外,强调了TP53突变对治疗策略的影响,由于与放疗相关的LFS患者的生存率较低,因此推荐保留放疗的治疗。病例说明了诊断CPC的挑战以及免疫组织化学和基因检测对TP53突变的重要性。
结论:CPC在诊断和管理方面提出了挑战,特别是区分它们和良性肿瘤。与LFS的联系,通常是由于TP53种系突变,强调了基因检测对早期检测和量身定制的治疗策略的重要性。对于与LFS相关的CPC,建议采用保留辐射的疗法,以减轻继发性恶性肿瘤的风险。全面分析CPC患者,尤其是在儿科病例中,对于早期发现和管理与LFS相关的潜在继发性癌症至关重要。
BACKGROUND: Choroid plexus carcinomas (CPCs) are rare, aggressive grade 3 tumors of the central nervous system associated with Li-Fraumeni syndrome (LFS) in a notable percentage of cases due to TP53 germline mutations. Understanding the correlation between CPCs and LFS is crucial for tailored management strategies. However, distinguishing CPCs from benign choroid plexus papillomas (CPPs) remains challenging, relying largely on histologic features. This study aimed to explore the association between CPCs and LFS, emphasizing the impact of TP53 mutations on diagnosis, treatment, and clinical outcomes.
METHODS: Scientific databases such as PubMed, Scopus, and Web of Science were systematically searched up to January 2024 using keywords related to CPCs, LFS, TP53 mutation, and central nervous system tumors. Selection criteria included studies investigating the link between CPCs and LFS, their management approaches, and genetic implications of TP53 mutations. Ten relevant studies were selected for analysis after screening titles, abstracts, and full-text articles. Data extraction focused on clinical, genetic, and management factors related to CPCs associated with LFS.
RESULTS: The
review highlighted the strong association (36%) between CPCs and LFS, primarily due to TP53 germline mutations. Studies emphasized the need for genetic testing in patients with CPCs, especially in pediatric cases, to identify LFS implications. Furthermore, the impact of TP53 mutations on treatment strategies was emphasized, recommending irradiation-sparing therapies due to inferior survival rates associated with radiotherapy in LFS patients with CPCs. Cases illustrated the challenges in diagnosing CPCs and the importance of immunohistochemistry and genetic testing for TP53 mutations.
CONCLUSIONS: CPCs pose challenges in diagnosis and management, particularly in distinguishing them from benign tumors. The association with LFS, often due to TP53 germline mutations, underscores the importance of genetic testing for early detection and tailored treatment strategies. Irradiation-sparing therapies are recommended for LFS-associated CPCs to mitigate the risk of secondary malignancies. Comprehensive profiling of CPC patients, especially in pediatric cases, is crucial for early detection and management of potential secondary cancers associated with LFS.