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Follicular variant of papillary thyroid cancer in Alström syndrome

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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.

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Conflict of interest

The authors declare no conflicts of interest.

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The manuscript complies to the Ethical Rules applicable for this journal.

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Authors and Affiliations

  1. Department of Endocrine Surgery, Helios Klinikum Wuppertal, University Hospital Witten-Herdecke, Heusnerstr. 40, 42283, Wuppertal, Germany

    M. Papadakis, A. Meyer, F. Schuster, N. Weyerbrock & C. Dotzenrath

  2. Department of Pathology, Helios Klinikum Wuppertal, University Hospital Witten-Herdecke, Heusnerstr. 40, 42283, Wuppertal, Germany

    C. Corinth

Authors
  1. M. Papadakis
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  2. A. Meyer
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  3. F. Schuster
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  4. N. Weyerbrock
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  5. C. Corinth
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  6. C. Dotzenrath
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Corresponding author

Correspondence to M. Papadakis.

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Papadakis, M., Meyer, A., Schuster, F. et al. Follicular variant of papillary thyroid cancer in Alström syndrome. Familial Cancer 14, 599–602 (2015). https://doi.org/10.1007/s10689-015-9816-x

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