title: Follicular variant of papillary thyroid cancer in Alström syndrome.
abstract: Alström syndrome (AS) is an autosomal recessive disorder, characterized by cone-rod dystrophy, sensorineural hearing loss, obesity, hyperinsulinemia with insulin resistance, type 2 diabetes mellitus and progressive pulmonary, hepatic and renal dysfunction. AS is caused by mutations in the ALMS1 gene, located on the short arm of chromosome 2. We report a 35-year-old woman with known history of AS, who developed a follicular variant of papillary thyroid carcinoma. To our knowledge this is the first association of AS with thyroid malignancy, among the approximately 450 cases reported since the first description of the syndrome. We conclude that papillary thyroid carcinoma should be considered in the differential diagnosis of thyroid nodules in patients with AS.
authors.affiliation: Department of Endocrine Surgery, Helios Klinikum Wuppertal, University Hospital Witten-Herdecke, Heusnerstr. 40, 42283, Wuppertal, Germany. marios_papadakis@yahoo.gr.
authors.forename: M
authors.initials: M
authors.lastname: Papadakis
authors.affiliation: Department of Endocrine Surgery, Helios Klinikum Wuppertal, University Hospital Witten-Herdecke, Heusnerstr. 40, 42283, Wuppertal, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Meyer
authors.affiliation: Department of Endocrine Surgery, Helios Klinikum Wuppertal, University Hospital Witten-Herdecke, Heusnerstr. 40, 42283, Wuppertal, Germany.
authors.forename: F
authors.initials: F
authors.lastname: Schuster
authors.affiliation: Department of Endocrine Surgery, Helios Klinikum Wuppertal, University Hospital Witten-Herdecke, Heusnerstr. 40, 42283, Wuppertal, Germany.
authors.forename: N
authors.initials: N
authors.lastname: Weyerbrock
authors.affiliation: Department of Pathology, Helios Klinikum Wuppertal, University Hospital Witten-Herdecke, Heusnerstr. 40, 42283, Wuppertal, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Corinth
authors.affiliation: Department of Endocrine Surgery, Helios Klinikum Wuppertal, University Hospital Witten-Herdecke, Heusnerstr. 40, 42283, Wuppertal, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Dotzenrath
mesh_terms: D018263:Adenocarcinoma, Follicular / Q000209:etiology* / Q000473:pathology; D000328:Adult; D056769:Alstrom Syndrome / Q000150:complications*; D002277:Carcinoma / Q000209:etiology* / Q000473:pathology; D002291:Carcinoma, Papillary; D005260:Female; D006801:Humans; D011379:Prognosis; D000077273:Thyroid Cancer, Papillary; D013964:Thyroid Neoplasms / Q000209:etiology* / Q000473:pathology
keywords: Alström syndrome; Follicular variant of papillary thyroid carcinoma; Thyroid cancer; Thyroid goitre