Somatic mutations in 33 benign and malignant hot thyroid nodules in children and adolescents

•Clinical and molecular data of hot thyroid nodules (HTNs) in children are rare.•We present clinical/molecular data for 33 consecutive (29 benign/4 malignant) HTNs.•59% of HTNs harbored somatic TSHR mutations.•The most commonly observed TSHR mutation was M453T (in 8/29 samples).•The newly found TSHR...

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Published in:	Molecular and cellular endocrinology Vol. 393; no. 1-2; pp. 39 - 45
Main Authors:	Eszlinger, Markus, Niedziela, Marek, Typlt, Eva, Jaeschke, Holger, Huth, Sandra, Schaarschmidt, Jörg, Aigner, Thomas, Trejster, Ewa, Krohn, Knut, Bösenberg, Eileen, Paschke, Ralf
Format:	Journal Article
Language:	English
Published:	Ireland Elsevier Ireland Ltd 05-08-2014
Subjects:	Adolescent Animals Cercopithecus aethiops Child Child, Preschool COS Cells Female Humans Hyperthyroidism Male Mutation - genetics Thyroid cancer Thyroid nodule Thyroid Nodule - classification Thyroid Nodule - genetics Thyroid nodule Hyperthyroidism Thyroid cancer
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Summary:	•Clinical and molecular data of hot thyroid nodules (HTNs) in children are rare.•We present clinical/molecular data for 33 consecutive (29 benign/4 malignant) HTNs.•59% of HTNs harbored somatic TSHR mutations.•The most commonly observed TSHR mutation was M453T (in 8/29 samples).•The newly found TSHR mutation A538T did not show constitutive activity in vitro. 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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0303-7207 1872-8057
DOI:	10.1016/j.mce.2014.05.023