Evidence map›Paper›PMID 40815376›Full record

ArticlePediatric radiology2025

A rare pediatric case of Li-Fraumeni syndrome presenting with virilization symptoms and dual primary malignancies on magnetic resonance imaging and [

Jiawen Chen, Wei Ouyang

Abstract readCase Reports
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In one paragraph

Article in Pediatric radiology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors.

Jiawen ChenDepartment of Nuclear Medicine, Zhujiang Hospital of Southern Medical University, No. 253 Gongye Street, Guangzhou, 510280, China.
Wei OuyangDepartment of Nuclear Medicine, Zhujiang Hospital of Southern Medical University, No. 253 Gongye Street, Guangzhou, 510280, China. oyw1963@smu.edu.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This case report describes a 19-month-old boy presenting with macropenis, increased stature, and deep voice, who was diagnosed with concurrent choroid plexus carcinoma in the right lateral ventricle and left adrenocortical carcinoma. Subsequent germline testing revealed pathogenic TP53 mutations, confirming a diagnosis of Li-Fraumeni syndrome. Li-Fraumeni syndrome with primary manifestations of macropenis and accelerated linear growth has rarely been documented in the medical literature. This case highlights the critical importance of implementing whole-body imaging modalities in pediatric patients with growth-developmental abnormalities, particularly those suggestive of Li-Fraumeni syndrome, to guide therapeutic decision-making and follow-up monitoring.

Indexed as

Adrenal Cortex NeoplasmsAdrenocortical CarcinomaChoroid Plexus NeoplasmsLi-Fraumeni SyndromeMagnetic Resonance ImagingNeoplasms, Multiple PrimaryPositron Emission Tomography Computed TomographyVirilismCarcinomaDiagnosis, DifferentialFluorodeoxyglucose F18HumansInfantMaleRadiopharmaceuticalsFluorodeoxyglucose F18RadiopharmaceuticalsAdrenocortical carcinomaChoroid plexus carcinomaLi-Fraumeni syndromeMagnetic resonance imagingPositron emission tomography computed tomography

Identifiers

PMID40815376

What OpenQuestion holds

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Registered trials

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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.