Updated recommendations for pediatric surveillance in hereditary endocrine neoplasia syndromes: multiple endocrine neoplasias, hyperparathyroidism-jaw tumor syndrome, and Carney Complex

Hereditary endocrine neoplasia syndromes comprise multiple entities associated with an increased risk for the development of endocrine and nonendocrine neoplasms and other systemic manifestations. These syndromes typically demonstrate autosomal dominant inheritance, and each syndrome is associated w...

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Autores principales: Wasserman, Jonathan (Autor) , Schneider, Kami Wolfe (Autor) , Achatz, Maria Isabel (Autor) , Nakano, Yoshiko (Autor) , Zelley, Kristin (Autor) , Gallinger, Bailey (Autor) , Bauer, Andrew J. (Autor) , Becktell, Kerri D. (Autor) , Wassner, Ari J. (Autor) , Raiti, Laura (Autor) , Doria, Andrea S. (Autor) , States, Lisa J. (Autor) , Stratakis, Constantine A. (Autor) , Brodeur, Garrett M. (Autor) , Diller, Lisa R. (Autor) , Kamihara, Junne (Autor) , Malkin, David (Autor) , Pajtler, Kristian Wilfried (Autor) , Tamura, Chieko (Autor) , Villani, Anita (Autor) , Widjaja, Elysa (Autor) , Das, Anirban (Autor) , Rednam, Surya (Autor)
Formato: Article (Journal)
Lenguaje:inglés
Publicado: 2 September 2025
In: Clinical cancer research
Year: 2025, Volumen: 31, Número: 17, Pages: 3628-3637
ISSN:1557-3265
DOI:10.1158/1078-0432.CCR-24-3860
Acceso en línea:Resolving-System, lizenzpflichtig, Volltext: https://doi.org/10.1158/1078-0432.CCR-24-3860
Verlag, lizenzpflichtig, Volltext: https://aacrjournals.org/clincancerres/article/31/17/3628/764187/Updated-Recommendations-for-Pediatric-Surveillance
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Notas de Autor:Jonathan D. Wasserman, Kami Wolfe Schneider, Maria-Isabel Achatz, Yoshiko Nakano, Kristin Zelley, Bailey Gallinger, Andrew J. Bauer, Kerri D. Becktell, Ari J. Wassner, Laura Raiti, Andrea S. Doria, Lisa J. States, Constantine A. Stratakis, Garrett M. Brodeur, Lisa R. Diller, Junne Kamihara, David Malkin, Kristian W. Pajtler, Chieko Tamura, Anita Villani, Elysa Widjaja, Anirban Das, and Surya P. Rednam
Descripción
Sumario:Hereditary endocrine neoplasia syndromes comprise multiple entities associated with an increased risk for the development of endocrine and nonendocrine neoplasms and other systemic manifestations. These syndromes typically demonstrate autosomal dominant inheritance, and each syndrome is associated with a unique genetic predisposition to a distinct spectrum of tumor susceptibility. Moreover, genotype-phenotype associations within each syndrome may affect the spectrum, penetrance, and age of onset of associated tumors. As many endocrine tumors are benign and/or indolent, a careful approach to monitoring is necessary, wherein the nature, timing of initiation, and frequency of presymptomatic surveillance balance the goal of detecting tumors at a point in which intervention would limit tumor-associated morbidity against the physical, emotional, and financial burdens of surveillance. In this study, we summarize changes in knowledge and practice recommendations related to children with multiple endocrine neoplasia syndromes (types 1, 2A, 2B, 4, and 5), hyperparathyroidism-jaw tumor syndrome, and Carney complex since an initial summary in 2017. These updates reflect the evolving understanding of these complex genetic disorders and aim to improve patient care and outcomes.
Notas:Online veröffentlicht am: 25. Juni 2025
Gesehen am 27.05.2026
Descripción Física:Online Resource
ISSN:1557-3265
DOI:10.1158/1078-0432.CCR-24-3860