ESPEYB15 3 Thyroid Pediatric thyroid cancer (2 abstracts)
3.11 DICER1 mutations are frequent in adolescent-onset papillary thyroid carcinoma
Wasserman JD , Sabbaghian N , Fahiminiya S , Chami R , Mete O , Acker M , Wu MK , Shlien A , de Kock L & Foulkes WD
Division of Endocrinology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada and Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, Quebec, Canada
To read the full abstract: J Clin Endocrinol Metab 2018;103:2009-2015
Thyroid cancer in children and adolescents has a higher rate of regional and distant metastases, and recurrence rate than in adults. However, little is known about the molecular origin of thyroid carcinoma in children. DICER1 encodes for an endoribonuclease responsible for processing RNA into small interfering RNA vand miRNA. DICER1 syndrome (OMIM #601200) has been recently described resulting from truncating mutations in the DICER1 gene causing a wide spectrum of benign and malignant tumors in children, such as pleuropulmonary blastoma, cystic nephroma, and pituitary blastoma. The risk for multinodular goiter and thyroid cancer in DICER1 germline mutation carriers has recently been shown to be highly increased1.
Here, Wasserman et al. investigated the prevalence of DICER1 mutations in thyroid specimens after thyroidectomy in pediatric patients with personal or family history of syndromic cancers. In contrast to data from adult thyroid cancer series with very low prevalence of DICER1 mutations, DICER1 mutations were found in a high proportion of pediatric tissues. Histology in the tissues with DICER1 mutations was classified as either papillary thyroid carcinoma, or benign follicular nodular disease. Somatic genetic alterations in DICER1 need to be considered as a new cause of papillary thyroid carcinoma in the pediatric age group.
1. Khan NE, Bauer AJ, Schultz KAP, Doros L, Decastro RM, Ling A, Lodish MB, Harney LA, Kase RG, Carr AG, Rossi CT, Field A, Harris AK, Williams GM, Dehner LP, Messinger YH, Hill DA; Stewart DR. Quantification of thyroid cancer and multinodular goiter risk in the DICER1 syndrome: a family-based cohort study. J Clin Endocrinol Metab 2017;102:1614-1622.
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ESPE Yearbook of Paediatric Endocrinology
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