"Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)".
PURPOSE
To report the incidence of 4-12% of differentiated thyroid cancer (DTC) and up to 50% of benign thyroid nodular disease and to describe nodular thyroid disease in a multicentre pediatric population with PTEN mutations.


METHODS
Retrospective data of pediatric patients with PTEN mutations collected from tertiary Departments of Pediatric Endocrinology of Turin, Milan and Genua, Italy, in the period 2010-2020.


RESULTS
Seventeen children with PTEN mutations were recruited in the study. Thyroid involvement was present in 12/17 (70.6%) subjects, showing a multinodular struma in 6/17 (35.3%), nodules with benign ultrasound features in 5/17 (29.4%) and a follicular adenoma in 1/17 (6%). No correlation was found between thyroid disease and gender, puberty, vascular manifestations, delayed development, or brain MRI abnormalities, while multiple lipomas were associated with thyroid disease (p = 0.03), as was macrocephaly. Standard Deviation (SD) score head circumference was 4.35 ± 1.35 cm in subjects with thyroid disease, 3 ± 0.43 cm (p = 0.02) in the group without thyroid disease. Thyroid involvement was present in all subjects with mutations in exon 6 (4/4) and exon 8 (3/3) of the PTEN gene (p = 0.02).


CONCLUSION
In the presented cohort, benign thyroid disorders were prevalent, with no evidence of DTC. A correlation was found between thyroid lesions and head circumference and the occurrence of multiple lipomas. Future studies in larger cohorts should assess whether risk stratification is needed when recommending surveillance strategies in children or young adolescents with PTEN hamartoma syndrome.
['Tuli|Gerdi|G|http://orcid.org/0000-0001-5862-8958', 'Munarin|Jessica|J|', 'Mussa|Alessandro|A|', 'Carli|Diana|D|', 'Gastaldi|Roberto|R|', 'Borgia|Paola|P|', 'Vigone|Maria Cristina|MC|', 'Abbate|Marco|M|', 'Ferrero|Giovanni Battista|GB|', 'De Sanctis|Luisa|L|']
D000293:Adolescent D002648:Child D006223:Hamartoma Syndrome, Multiple D006801:Humans D009154:Mutation D051059:PTEN Phosphohydrolase D012189:Retrospective Studies D013959:Thyroid Diseases
PTEN mutation Differentiated thyroid cancer Pediatric age Thyroid nodule