Evidence map›Paper›PMID 39641826›Full record

ReviewWorld journal of pediatrics : WJP2025

Non-malignant features of cancer predisposition syndromes manifesting in childhood and adolescence: a guide for the general pediatrician.

Michaela Kuhlen, Andreas B Weins, Nicole Stadler, Daniela Angelova-Toshkina, Michael C Frühwald

Abstract readReview
In one paragraph

Review in World journal of pediatrics : WJP, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. Article
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

5 authors.

Michaela KuhlenPediatrics and Adolescent Medicine, Faculty of Medicine, University of Augsburg, 86156, Augsburg, Germany. Michaela.Kuhlen@uk-augsburg.de.ORCID 0000-0003-4577-0503
Andreas B WeinsPediatrics and Adolescent Medicine, Faculty of Medicine, University of Augsburg, 86156, Augsburg, Germany.
Nicole StadlerPediatrics and Adolescent Medicine, Faculty of Medicine, University of Augsburg, 86156, Augsburg, Germany.
Daniela Angelova-ToshkinaPediatrics and Adolescent Medicine, Faculty of Medicine, University of Augsburg, 86156, Augsburg, Germany.
Michael C FrühwaldPediatrics and Adolescent Medicine, Faculty of Medicine, University of Augsburg, 86156, Augsburg, Germany.ORCID 0000-0002-8237-1854

Funding

Deutsche Forschungsgemeinschaft KU3764/3-1Deutsche Krebshilfe 70113981Deutsche Krebshilfe 70115888
6 · The paper itself

Abstract

purposeCancer predisposition syndromes are genetic disorders that significantly raise the risk of developing malignancies. Although the malignant manifestations of cancer predisposition syndromes are well-studied, recognizing their non-malignant features is crucial for early diagnosis, especially in children and adolescents.

methodsA comprehensive literature search was conducted using the PubMed database, focusing on non-malignant manifestations of cancer predisposition syndromes in children and adolescents. Key sources included the Clinical Cancer Research pediatric oncology series and ORPHANET. Studies that described clinical signs and symptoms affecting specific organ systems were included.

resultsNon-malignant dermatological features often serve as early indicators of cancer predisposition syndromes, including café-au-lait spots in Neurofibromatosis Type 1 and facial angiofibromas in Tuberous Sclerosis Complex. Neurological and developmental anomalies such as cerebellar ataxia in ataxia-telangiectasia and intellectual disabilities in neurofibromatosis type 1 and tuberous sclerosis complex are significant indicators. Growth and metabolic anomalies are also notable, including overgrowth in Beckwith-Wiedemann syndrome and growth hormone deficiency in neurofibromatosis Type 1. In addition, facial anomalies, ocular manifestations, hearing issues, and thyroid anomalies are prevalent across various cancer predisposition syndromes. For instance, hearing loss may be significant in neurofibromatosis Type 2, while thyroid nodules are common in PTEN hamartoma tumor syndrome and DICER1 syndrome. Cardiovascular, abdominal, musculoskeletal, pulmonary, genitourinary manifestations, and prenatal deviations further complicate the clinical picture.

conclusionsRecognizing non-malignant features of cancer predisposition syndromes is essential for early diagnosis and management. This organ-specific overview furthers awareness among healthcare providers, facilitating timely genetic counseling, surveillance programs, and preventive measures, ultimately improving patient outcomes.

Indexed as

Genetic Predisposition to DiseaseNeoplastic Syndromes, HereditaryAdolescentChildHumansMaleCancer predispositionChildrenNon-malignant manifestationsPsychosocial needsSurveillance

Identifiers

PMID39641826
PMCPMC11885337

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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.