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

作　　者：Michaela Kuhlen Andreas B.Weins Nicole Stadler Daniela Angelova-Toshkina Michael CFrühwald 

机构地区：[1]Pediatrics and Adolescent Medicine,Faculty of Medicine,University of Augsburg,86156 Augsburg,Germany [2]Augsburger Zentrum fur Seltene Erkrankungen,Faculty of Medicine,University of Augsburg,86156 Augsburg,Germany

出　　处：《World Journal of Pediatrics》2025年第2期131-148,共18页世界儿科杂志(英文版)

基　　金：Open Access funding enabled and organized by Projekt DEAL;The research of KM on pediatric cancer predisposition is supported by Deutsche Krebshilfe(70115888);Deutsche Forschungsgemeinschaft(KU3764/3-1);intramurale Forschungsförderung,University of Augsburg,Germany.FMC’s research on rhabdoid tumor disposition is supported by Deutsche Krebshilfe 70113981.

摘　　要：Purpose Cancer 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.Methods A 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.Results Non-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.Conclusions Recognizing 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 impr

关 键 词：Cancer predisposition Children Non-malignant manifestations Psychosocial needs Surveillance 

分 类 号：R73[医药卫生—肿瘤]