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@ARTICLE{Wasserman:304300,
author = {J. D. Wasserman and K. W. Schneider and M.-I. Achatz and Y.
Nakano and K. Zelley and B. Gallinger and A. J. Bauer and K.
D. Becktell and A. J. Wassner and L. Raiti and A. S. Doria
and L. J. States and C. A. Stratakis and G. M. Brodeur and
L. R. Diller and J. Kamihara and D. Malkin and K.
Pajtler$^*$ and C. Tamura and A. Villani and E. Widjaja and
A. Das and S. P. Rednam},
title = {{U}pdated {R}ecommendations for {P}ediatric {S}urveillance
in {H}ereditary {E}ndocrine {N}eoplasia {S}yndromes:
{M}ultiple {E}ndocrine {N}eoplasias,
{H}yperparathyroidism-{J}aw {T}umor {S}yndrome, and {C}arney
{C}omplex.},
journal = {Clinical cancer research},
volume = {31},
number = {17},
issn = {1078-0432},
address = {Philadelphia, Pa. [u.a.]},
publisher = {AACR},
reportid = {DKFZ-2025-01836},
pages = {3628 - 3637},
year = {2025},
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.},
subtyp = {Review Article},
keywords = {Humans / Multiple Endocrine Neoplasia: diagnosis / Multiple
Endocrine Neoplasia: genetics / Multiple Endocrine
Neoplasia: epidemiology / Carney Complex: diagnosis / Carney
Complex: genetics / Carney Complex: epidemiology / Child /
Genetic Predisposition to Disease / Jaw Neoplasms: diagnosis
/ Jaw Neoplasms: genetics / Hyperparathyroidism: diagnosis /
Hyperparathyroidism: genetics},
cin = {B062 / HD01},
ddc = {610},
cid = {I:(DE-He78)B062-20160331 / I:(DE-He78)HD01-20160331},
pnm = {312 - Funktionelle und strukturelle Genomforschung
(POF4-312)},
pid = {G:(DE-HGF)POF4-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:40560659},
doi = {10.1158/1078-0432.CCR-24-3860},
url = {https://inrepo02.dkfz.de/record/304300},
}