Mallik Dattatraya, Gopal Swaroop, Scalia Gianluca, Umana Giuseppe, Rajeswarie R T, Chaurasia Bipin
Sakra World Hospital, Bengaluru, Karnataka, India.
Neurosurgery Unit, Department of Head and Neck Surgery, Garibaldi Hospital, Catania, Italy.
Childs Nerv Syst. 2024 Jun;40(6):1699-1705. doi: 10.1007/s00381-024-06313-y. Epub 2024 Feb 6.
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.
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.
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.
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.
脉络丛癌（CPC）是罕见的侵袭性3级中枢神经系统肿瘤，在相当比例的病例中，由于TP53基因种系突变，与李-弗劳梅尼综合征（LFS）相关。了解CPC与LFS之间的相关性对于制定个性化管理策略至关重要。然而，将CPC与良性脉络丛乳头状瘤（CPP）区分开来仍然具有挑战性，这在很大程度上依赖于组织学特征。本研究旨在探讨CPC与LFS之间的关联，强调TP53突变对诊断、治疗和临床结果的影响。
截至2024年1月，使用与CPC、LFS、TP53突变和中枢神经系统肿瘤相关的关键词，对PubMed、Scopus和Web of Science等科学数据库进行系统检索。选择标准包括研究CPC与LFS之间的联系、它们的管理方法以及TP53突变的遗传影响。在筛选标题、摘要和全文文章后，选择了10项相关研究进行分析。数据提取集中在与LFS相关的CPC的临床、遗传和管理因素上。
该综述强调了CPC与LFS之间的强关联（36%），主要是由于TP53基因种系突变。研究强调，对于CPC患者，尤其是儿科患者，需要进行基因检测，以确定LFS的影响。此外，强调了TP53突变对治疗策略的影响，建议采用避免放疗的疗法，因为患有CPC的LFS患者接受放疗后的生存率较低。病例说明了诊断CPC的挑战以及免疫组织化学和TP53突变基因检测的重要性。
CPC在诊断和管理方面存在挑战，尤其是在将它们与良性肿瘤区分开来方面。与LFS的关联通常是由于TP53基因种系突变，这凸显了基因检测对于早期发现和制定个性化治疗策略的重要性。对于与LFS相关的CPC，建议采用避免放疗的疗法，以降低继发恶性肿瘤的风险。对CPC患者进行全面分析，尤其是儿科患者，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。
