title: Somatic mutations in 33 benign and malignant hot thyroid nodules in children and adolescents.
abstract: Hot thyroid nodules (HTNs) in children are rare. Their reported malignancy rate is higher than in adults. However molecular data are rare. We present clinical and molecular data for 33 consecutive (29 benign and 4 malignant) HTNs. 17/29 Benign HTNs (59%) harbored somatic TSHR mutations. The most commonly observed mutation was M453T (in 8/29 samples). T632I and D633Y mutations were each detected twice. All other TSHR mutations were each found in one sample, including the new A538T mutation. One NRAS mutation was detected in a benign HTN with a M453T mutation. A PAX8/PPARG rearrangement was found in one malignant HTN. A T632I mutation was detected in one hot papillary thyroid carcinoma. The percentage of TSHR mutation positive HTNs in children and adolescents is within the range observed in adults. Contrary to adults, the M453T mutation is the predominant TSHR mutation in HTNs of children and adolescents. The increased malignancy rate of HTNs of children does not appear to be associated with RAS, BRAF, PAX8/PPARG and RET/PTC mutations.
authors.affiliation: Division of Endocrinology and Nephrology, University of Leipzig, Liebigstr. 21, D-04103 Leipzig, Germany. Electronic address: markus.eszlinger@medizin.uni-leipzig.de.
authors.forename: Markus
authors.initials: M
authors.lastname: Eszlinger
authors.affiliation: Department of Paediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, 27/33 Szpitalna Street, 60-572 Poznan, Poland. Electronic address: mniedzie@ump.edu.pl.
authors.forename: Marek
authors.initials: M
authors.lastname: Niedziela
authors.affiliation: Division of Endocrinology and Nephrology, University of Leipzig, Liebigstr. 21, D-04103 Leipzig, Germany. Electronic address: eva.typlt@gmx.de.
authors.forename: Eva
authors.initials: E
authors.lastname: Typlt
authors.affiliation: Division of Endocrinology and Nephrology, University of Leipzig, Liebigstr. 21, D-04103 Leipzig, Germany. Electronic address: Holger.Jaeschke@medizin.uni-leipzig.de.
authors.forename: Holger
authors.initials: H
authors.lastname: Jaeschke
authors.affiliation: Division of Endocrinology and Nephrology, University of Leipzig, Liebigstr. 21, D-04103 Leipzig, Germany. Electronic address: Sandra.Huth@medizin.uni-leipzig.de.
authors.forename: Sandra
authors.initials: S
authors.lastname: Huth
authors.affiliation: Division of Endocrinology and Nephrology, University of Leipzig, Liebigstr. 21, D-04103 Leipzig, Germany. Electronic address: Joerg.Schaarschmidt@medizin.uni-leipzig.de.
authors.forename: Jörg
authors.initials: J
authors.lastname: Schaarschmidt
authors.affiliation: Institute of Pathology, University of Leipzig, Liebigstr., D-04103 Leipzig, Germany. Electronic address: thomas.aigner@klinikum-coburg.de.
authors.forename: Thomas
authors.initials: T
authors.lastname: Aigner
authors.affiliation: Laboratory of Pathology, Karol Jonscher's Clinical Hospital of Poznan University of Medical Sciences, 27/33 Szpitalna Street, 60-572 Poznan, Poland.
authors.forename: Ewa
authors.initials: E
authors.lastname: Trejster
authors.affiliation: IZKF Leipzig, University of Leipzig, Liebigstr. 21, D-04103 Leipzig, Germany. Electronic address: knut.krohn@medizin.uni-leipzig.de.
authors.forename: Knut
authors.initials: K
authors.lastname: Krohn
authors.affiliation: Division of Endocrinology and Nephrology, University of Leipzig, Liebigstr. 21, D-04103 Leipzig, Germany. Electronic address: Eileen.Boesenberg@medizin.uni-leipzig.de.
authors.forename: Eileen
authors.initials: E
authors.lastname: Bösenberg
authors.affiliation: Division of Endocrinology and Nephrology, University of Leipzig, Liebigstr. 20, D-04103 Leipzig, Germany. Electronic address: Ralf.Paschke@medizin.uni-leipzig.de.
authors.forename: Ralf
authors.initials: R
authors.lastname: Paschke
mesh_terms: D000293:Adolescent; D000818:Animals; D019556:COS Cells; D002648:Child; D002675:Child, Preschool; D002522:Chlorocebus aethiops; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D016606:Thyroid Nodule / Q000145:classification / Q000235:genetics*
keywords: Hyperthyroidism; Thyroid cancer; Thyroid nodule