We present the clinical and molecular studies of a family with Pendred syndrome, in which one affected individual developed follicular thyroid cancer. Two siblings with classic Pendred syndrome triad were operated on because of enormous multinodular goiter. Histopathology showed a follicular thyroid cancer in the male and a multinodular goiter in the female. PDS gene analysis revealed G-to-A transition in the splice donor site of intron 8 (IVS8+1G>A/c.1001+1G>A). Careful surveillance is needed in all cases of thyroid nodules in patients with Pendred syndrome, due to the high risk of malignancy.Le texte complet de cet article est disponible en PDF.
Keywords : Pendred syndrome, Thyroid cancer, PDS gene mutation, Multinodular Goiter
Mots clés : Syndrome de Pendred, Cancer de la thyroïde, Mutation du gène PDS, Goitre multinodulaire