TY  - JOUR
AU  - Wasserman, Jonathan D
AU  - Schneider, Kami Wolfe
AU  - Achatz, Maria-Isabel
AU  - Nakano, Yoshiko
AU  - Zelley, Kristin
AU  - Gallinger, Bailey
AU  - Bauer, Andrew J
AU  - Becktell, Kerri D
AU  - Wassner, Ari J
AU  - Raiti, Laura
AU  - Doria, Andrea S
AU  - States, Lisa J
AU  - Stratakis, Constantine A
AU  - Brodeur, Garrett M
AU  - Diller, Lisa R
AU  - Kamihara, Junne
AU  - Malkin, David
AU  - Pajtler, Kristian
AU  - Tamura, Chieko
AU  - Villani, Anita
AU  - Widjaja, Elysa
AU  - Das, Anirban
AU  - Rednam, Surya P
TI  - Updated Recommendations for Pediatric Surveillance in Hereditary Endocrine Neoplasia Syndromes: Multiple Endocrine Neoplasias, Hyperparathyroidism-Jaw Tumor Syndrome, and Carney Complex.
JO  - Clinical cancer research
VL  - 31
IS  - 17
SN  - 1078-0432
CY  - Philadelphia, Pa. [u.a.]
PB  - AACR
M1  - DKFZ-2025-01836
SP  - 3628 - 3637
PY  - 2025
AB  - 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.
KW  - Humans
KW  - Multiple Endocrine Neoplasia: diagnosis
KW  - Multiple Endocrine Neoplasia: genetics
KW  - Multiple Endocrine Neoplasia: epidemiology
KW  - Carney Complex: diagnosis
KW  - Carney Complex: genetics
KW  - Carney Complex: epidemiology
KW  - Child
KW  - Genetic Predisposition to Disease
KW  - Jaw Neoplasms: diagnosis
KW  - Jaw Neoplasms: genetics
KW  - Hyperparathyroidism: diagnosis
KW  - Hyperparathyroidism: genetics
LB  - PUB:(DE-HGF)16
C6  - pmid:40560659
DO  - DOI:10.1158/1078-0432.CCR-24-3860
UR  - https://inrepo02.dkfz.de/record/304300
ER  -