Detection of an activating mutation of the thyrotropin receptor in a case of an autonomously hyperfunctioning thyroid insular carcinoma

Alfredo Pontecorvi, Diego Russo, Salvatore Tumino, Franco Arturi, Paolo Vigneri, Giuseppe Grasso, Sebastiano Filetti, Antonino Belfiore

Risultato della ricerca: Contributo in rivistaArticolo in rivista

104 Citazioni (Scopus)

Abstract

Thyroid carcinomas, even when well differentiated, usually appear as hypofunctioning at scintigraphy. We report a case of an aggressive insular thyroid carcinoma presenting as an autonomously functioning thyroid nodule and causing severe thyrotoxicosis. The tumor was metastatic to a cervical lymph node and both lungs. An activating mutation of the TSH receptor gene in both the primary tumor and the lymph node metastasis was found, due to a base substitution at codon 633 (normal guanine at position 1896 replaced by cytosine CAC for GAC causing aspartic acid substitution by histidine). Other known oncogenes (gsp, ras, PTC/ret, trk, met, and p53) were not involved. This is the first description of an activating TSH receptor mutation in a thyroid hyperfunctioning carcinoma in which an aggressive malignant phenotype coexisted with activation of the cAMP cascade and differentiated thyroid functions.
Lingua originaleEnglish
pagine (da-a)735-738
Numero di pagine4
RivistaTHE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
Volume82
Stato di pubblicazionePubblicato - 1997

Keywords

  • Base Sequence
  • Carcinoma
  • Female
  • Genes
  • Humans
  • Lung Neoplasms
  • Lymphatic Metastasis
  • Middle Aged
  • Point Mutation
  • Polymerase Chain Reaction
  • Receptors, Thyrotropin
  • Thyroid Neoplasms
  • Thyrotoxicosis

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