H. Mircescu et al., Hyperfunctioning malignant thyroid nodule in an 11-year-old girl: Pathologic and molecular studies, J PEDIAT, 137(4), 2000, pp. 585-587
We identified a papillary carcinoma in an 11-year-old girl with a hyperfunc
tioning thyroid nodule. A met453thr mutation in TSHR was found in the nodul
e but not in normal thyroid tissue or in leukocytes. This case documents th
at this activating mutation is associated with neoplasia.