Evidence map›Paper›PMID 38316675›Full record

ReviewChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2024

Correlation between choroid plexus carcinoma and Li-Fraumeni syndrome: implications of TP53 mutations and management strategies-a case-based narrative review.

Dattatraya Mallik, Swaroop Gopal, Gianluca Scalia, Giuseppe Umana, R T Rajeswarie, Bipin Chaurasia

Abstract readReviewCase Reports
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In one paragraph

Review in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Dattatraya MallikSakra World Hospital, Bengaluru, Karnataka, India. radonizer76@gmail.com.
Swaroop GopalSakra World Hospital, Bengaluru, Karnataka, India.
Gianluca ScaliaSakra World Hospital, Bengaluru, Karnataka, India.
Giuseppe UmanaSakra World Hospital, Bengaluru, Karnataka, India.
R T RajeswarieSakra World Hospital, Bengaluru, Karnataka, India.
Bipin ChaurasiaSakra World Hospital, Bengaluru, Karnataka, India.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundChoroid 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. MATERIALS AND

methodsScientific 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.

resultsThe 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.

conclusionCPCs 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.

Indexed as

CarcinomaChoroid Plexus NeoplasmsLi-Fraumeni SyndromeTumor Suppressor Protein p53ChildFemaleGerm-Line MutationHumansMaleMutationTP53 protein, humanTumor Suppressor Protein p53Choroid plexus carcinomaGeneticLi-FraumeniRecurrenceTP53

Identifiers

PMID38316675

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.