Occurrence of medullary thyroid carcinoma, bronchial carcinoid tumor, and papillary thyroid carcinoma in a family bearing the RET G691S polymorphism

M. Rotondi, T. Ercolino, R. Fonte, M. S. Lagonigro, P. Leporati, L. Villan, L. La Manna, M. Mannelli, L. Chiovato

Research output: Contribution to journalArticle

Abstract

RET mutations play an important role in the development of human neuroendocrine tumors. The prevalence of the RET polymorphism G6915 of exon 11 is higher in patients with medullary thyroid carcinoma (MTC) as compared to the general population. A weak association between RET polymorphisms and sporadic papillary thyroid carcinoma (PTC) has also been described. We hereby describe the association of MTC, bronchial carcinoid tumor, and PTC in a familial setting. A 75-yr-old woman developed MTC 7 yr after successful treatment of a bronchial carcinoid. Serum calcitonin was 12.9 pg/ml with a peak response to pentagastrin (151.0 pg/mI). The patient underwent total thyroidectomy and a genetic mutational analysis of the RET gene. Histological evaluation confirmed MTC with no evidence of lymph nodes involvement. After thyroidectomy serum calcitonin was

Original languageEnglish
Pages (from-to)115-118
Number of pages4
JournalJournal of Endocrinological Investigation
Volume32
Issue number2
Publication statusPublished - Feb 2009

Keywords

  • Carcinoid
  • G691S polymorphism
  • Neuroendocrine tumors
  • RET
  • Thyroid Cancer

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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