Identification of the Cys634->Tyr mutation of the RET proto-oncogene in a pedigree with multiple endocrine neoplasia type 2A and localized cutaneous lichen amyloidosis

Isabella Cecherini, C. Romei, V. Barone, F. Pacini, E. Martino, A. Loviselli, A. Pinchera, G. Romeo

Research output: Contribution to journalArticle

Abstract

Following the recent identification of specific germline mutations of the RET proto-oncogene in Multiple Endocrine Neoplasia type 2A (MEN2A) patients, we looked for mutations of this gene in a pedigree showing recurrence of MEN2A and localized Cutaneous Lichen Amyloidosis (CLA). Basal calcitonin and/or pentagastrin test performed in all the 10 available members of this pedigree confirmed the clinical diagnosis and allowed the presymptomatic identification of an additional carrier. A cys634->tyr missense mutation, already reported as causative in MEN2A patients, was identified after SSCP analysis and direct sequencing of exon 11 of the RET protooncogene in one individual affected with both MEN2A and CLA, thus suggesting a common etiology for the two disorders. Taking advantage of the observation of an Rsal restriction site in the sequence surrounding the mutated codon, we could demonstrate that the same mutation is present in three other affected members, in the presymptomatic carrier and in one additional 25 years old healthy member who shows a mildly positive pentagastrin test.

Original languageEnglish
Pages (from-to)201-204
Number of pages4
JournalJournal of Endocrinological Investigation
Volume17
Issue number3
DOIs
Publication statusPublished - 1994

Keywords

  • calcitonin
  • cutaneous lichen amyloidosis
  • medullary thyroid cancer
  • missense mutation
  • Multiple endocrine neoplasia type 2A
  • restriction analysis
  • RET proto-oncogene

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

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