Evidence map›Paper›PMID 38644431›Full record

ArticlePediatric radiology2024

Imaging findings of children with PTEN-related hamartoma tumor syndrome: a 20-year multicentric pediatric cohort.

Claudia Martinez-Rios, Laura S De Leon Benedetti, Luis Octavio Tierradentro-Garcia, Ozge Aksel Kilicarslan, Pablo Caro-Dominguez, Hansel J Otero

Abstract readMulticenter Study
PubMed Publisher
In one paragraph

Article in Pediatric radiology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.9field-weighted citation impact, top 27% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 4 citations in OpenAlex.

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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

6 authors at 4 institutions in 3 countries.

Claudia Martinez-RiosDepartment of Diagnostic and Interventional Radiology, The Hospital for Sick Children, Department of Radiology, University of Toronto, 555 University Avenue, Toronto, ON, M5G1X8, Canada. claudia.martinezrios@sickkids.ca.ORCID 0000-0001-8591-9822
Laura S De Leon BenedettiDepartment of Radiology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, 19104, USA.
Luis Octavio Tierradentro-GarciaDepartment of Radiology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, 19104, USA.
Ozge Aksel KilicarslanMedical Imaging Department, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, K1H8L1, Canada.
Pablo Caro-DominguezUnidad de Radiologia Pediatrica, Servicio de Radiodiagnostico, Hospital Universitario Virgen del Rocio Sevilla, Sevilla, 41013, Spain.
Hansel J OteroDepartment of Radiology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, 19104, USA.
Children's Hospital of Philadelphia · USHospital Universitario Virgen del Rocío · ESUniversity of Ottawa · CAUniversity of Toronto · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPTEN-related hamartoma tumor syndrome results from a mutation in the PTEN gene located at 10q23.31. This syndrome represents a spectrum of different phenotypes of variable expressions, now recognized as part of the same condition. Patients with this mutation have an increased risk of developing a wide range of findings, including malignancies. Although widely described in adults, there are no large series describing the imaging findings in patients before adulthood. Knowledge of the findings seen in children and adolescents with PTEN-related hamartoma tumor syndrome can help guide further management and improve surveillance recommendations.

objectiveTo describe the spectrum of imaging abnormalities in pediatric patients with PTEN-related hamartoma tumor syndrome. MATERIALS AND

methodsWe performed a retrospective, cross-sectional, multicenter study conducted between January 2000 and October 2021 in three tertiary pediatric institutions evaluating the imaging findings in children and adolescents (≤ 18 years) with confirmed diagnoses of a PTEN mutation. For each patient, the imaging findings, histopathology reports, and at least a 2-year follow-up of clinical outcomes for non-operative cases were documented.

resultsThe cohort included 78 children (37 girls), with a mean age at diagnosis of 7.5 years (range 0 days to 18 years). Benign brain findings included enlarged Virchow-Robin perivascular spaces, white matter changes, developmental venous anomalies, and cerebellar hamartomas. Benign thyroid findings were common, but 5/45 (11.1%) with thyroid abnormalities had a malignant nodule. Soft tissue adipocytic tumors, GI/GU polyps, other soft tissue abnormalities, along with vascular anomalies in various anatomic locations were common.

conclusionBrain abnormalities, benign non-vascular soft tissue abnormalities, and vascular anomalies are commonly seen in children and adolescents with PTEN-related hamartoma tumor syndrome. However, malignancies involving the thyroid gland are not uncommon. Familiarity with the phenotype of PTEN-related hamartoma tumor syndrome in the pediatric population can improve diagnosis and prompt appropriate clinical surveillance of abnormal findings that warrant further management.

Indexed as

Hamartoma Syndrome, MultiplePTEN PhosphohydrolaseAdolescentChildChild, PreschoolCross-Sectional StudiesFemaleHumansInfantMaleMutationRetrospective StudiesPTEN PhosphohydrolasePTEN protein, humanCancer predispositionChildrenImagingPTEN proteinPTEN-related hamartoma tumor syndromeThyroid

Identifiers

PMID38644431
OpenAlexW4395007643

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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.