Seventeen-year-long follow-up of a family affected by type 2A multiple endocrine neoplasia (MEN 2A)

A. Libroia, U. Verga, G. Vecchi, F. Banfi, F. Zurleni, L. Quadro, C. Scurini, O. Fattoruso, V. Colantuoni

Research output: Contribution to journalArticlepeer-review

6 Scopus citations

Abstract

This paper reports the results of a 17-year-long follow-up covering 17 members of a family affected by multiple endocrine neoplasia (MEN) type 2 A, first diagnosed in 1980. This family is enrolled in our screening program. The thyroid, parathyroid and adrenal glands of the family members were investigated using the most sophisticated and sensitive techniques which have become available during this period, and their DNA was genetically tested for detecting RET mutations. Thanks to the combination of these two approaches it was possible to confirm the diagnosis in the members concerned from the genetic point of view, and to achieve an early diagnosis in the young members of the last generation before the clinical onset of the disease. The detection of a RET mutation also prompted a prophylactic thyroidectomy in a four year-old boy, in a pre-tumoral stage of the disease. Lastly, evidence is provided that genetic analysis of the DNA of the chorionic villi can be carried out as a prenatal test during routine amniocentesis.

Original languageEnglish (US)
Pages (from-to)87-92
Number of pages6
JournalJournal of Endocrinological Investigation
Volume21
Issue number2
DOIs
StatePublished - Feb 1998
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

Keywords

  • Chorionic villi DNA
  • Genetic analysis
  • MEN 2A
  • Multiple endocrine neoplasia type 2A
  • RET proto-oncogene

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