Journal Article (Review Article)

DKFZ-2025-01836

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Updated Recommendations for Pediatric Surveillance in Hereditary Endocrine Neoplasia Syndromes: Multiple Endocrine Neoplasias, Hyperparathyroidism-Jaw Tumor Syndrome, and Carney Complex.

Wasserman, J. D. ; Schneider, K. W. ; Achatz, M.-I. ; Nakano, Y. ; Zelley, K. ; Gallinger, B. ; Bauer, A. J. ; Becktell, K. D. ; Wassner, A. J. ; Raiti, L. ; Doria, A. S. ; States, L. J. ; Stratakis, C. A. ; Brodeur, G. M. ; Diller, L. R. ; Kamihara, J. ; Malkin, D. ; Pajtler, K.DKFZ* ; Tamura, C. ; Villani, A. ; Widjaja, E. ; Das, A. ; Rednam, S. P.

2025
AACR Philadelphia, Pa. [u.a.]

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Please use a persistent id in citations: doi:10.1158/1078-0432.CCR-24-3860

Abstract: 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.

Keyword(s): Humans (MeSH) ; Multiple Endocrine Neoplasia: diagnosis (MeSH) ; Multiple Endocrine Neoplasia: genetics (MeSH) ; Multiple Endocrine Neoplasia: epidemiology (MeSH) ; Carney Complex: diagnosis (MeSH) ; Carney Complex: genetics (MeSH) ; Carney Complex: epidemiology (MeSH) ; Child (MeSH) ; Genetic Predisposition to Disease (MeSH) ; Jaw Neoplasms: diagnosis (MeSH) ; Jaw Neoplasms: genetics (MeSH) ; Hyperparathyroidism: diagnosis (MeSH) ; Hyperparathyroidism: genetics (MeSH)

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Contributing Institute(s):

1. B062 Pädiatrische Neuroonkologie (B062)
2. DKTK HD zentral (HD01)

Research Program(s):

1. 312 - Funktionelle und strukturelle Genomforschung (POF4-312) (POF4-312)

Appears in the scientific report 2025

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Database coverage:
; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Essential Science Indicators ; IF >= 10 ; JCR ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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