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Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations.

Publication ,  Journal Article
Collins, MT; Sarlis, NJ; Merino, MJ; Monroe, J; Crawford, SE; Krakoff, JA; Guthrie, LC; Bonat, S; Robey, PG; Shenker, A
Published in: J Clin Endocrinol Metab
September 2003

McCune-Albright syndrome (MAS) is defined by the triad of café-au-lait skin pigmentation, polyostotic fibrous dysplasia, and hyperfunctioning endocrinopathies, such as precocious puberty, hyperthyroidism, GH excess, and Cushing's syndrome. This disorder is caused by sporadic, postzygotic activating mutations in the GNAS1 gene, which codes for the G(s)alpha protein in the cAMP signaling cascade. Nodular and diffuse goiters (with and without hyperthyroidism), as well as benign thyroid nodules, have been reported in association with MAS. Herein we report two cases of thyroid carcinoma in patients with MAS. The first is a case of papillary thyroid cancer detected incidentally during a hemithyroidectomy for hyperthyroidism in a 14-yr-old girl. The second is one of a 41-yr-old woman with long-standing MAS and an enlarging thyroid nodule, which was diagnosed as a clear cell thyroid carcinoma, a rare variant of thyroid cancer. Molecular analysis revealed that foci of malignancy and adjacent areas of hyperplasia and some areas of normal thyroid harbored activating mutations of Arg(201) in the GNAS1 gene. These findings suggest that the infrequent development of thyroid carcinoma in MAS patients involves additional mutational or epigenetic events.

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Published In

J Clin Endocrinol Metab

DOI

ISSN

0021-972X

Publication Date

September 2003

Volume

88

Issue

9

Start / End Page

4413 / 4417

Location

United States

Related Subject Headings

  • Thyroidectomy
  • Thyroid Neoplasms
  • Reverse Transcriptase Polymerase Chain Reaction
  • Protein Subunits
  • Nerve Tissue Proteins
  • Mutation
  • Humans
  • Heterotrimeric GTP-Binding Proteins
  • Genes, ras
  • GTP-Binding Protein alpha Subunits, Gs
 

Citation

APA
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MLA
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Collins, M. T., Sarlis, N. J., Merino, M. J., Monroe, J., Crawford, S. E., Krakoff, J. A., … Shenker, A. (2003). Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations. J Clin Endocrinol Metab, 88(9), 4413–4417. https://doi.org/10.1210/jc.2002-021642
Collins, Michael T., Nicholas J. Sarlis, Maria J. Merino, Jason Monroe, Susan E. Crawford, Jonathan A. Krakoff, Lori C. Guthrie, Sandra Bonat, Pamela G. Robey, and Andrew Shenker. “Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations.J Clin Endocrinol Metab 88, no. 9 (September 2003): 4413–17. https://doi.org/10.1210/jc.2002-021642.
Collins MT, Sarlis NJ, Merino MJ, Monroe J, Crawford SE, Krakoff JA, et al. Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations. J Clin Endocrinol Metab. 2003 Sep;88(9):4413–7.
Collins, Michael T., et al. “Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations.J Clin Endocrinol Metab, vol. 88, no. 9, Sept. 2003, pp. 4413–17. Pubmed, doi:10.1210/jc.2002-021642.
Collins MT, Sarlis NJ, Merino MJ, Monroe J, Crawford SE, Krakoff JA, Guthrie LC, Bonat S, Robey PG, Shenker A. Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations. J Clin Endocrinol Metab. 2003 Sep;88(9):4413–4417.
Journal cover image

Published In

J Clin Endocrinol Metab

DOI

ISSN

0021-972X

Publication Date

September 2003

Volume

88

Issue

9

Start / End Page

4413 / 4417

Location

United States

Related Subject Headings

  • Thyroidectomy
  • Thyroid Neoplasms
  • Reverse Transcriptase Polymerase Chain Reaction
  • Protein Subunits
  • Nerve Tissue Proteins
  • Mutation
  • Humans
  • Heterotrimeric GTP-Binding Proteins
  • Genes, ras
  • GTP-Binding Protein alpha Subunits, Gs