17-YEAR-LONG FOLLOW-UP OF A FAMILY AFFECTED BY TYPE 2A MULTIPLE ENDOCRINE NEOPLASIA (MEN 2A)

This paper reports the results of a 17-year-long follow-up covering 17 members of a family affected by multiple endocrine neoplasia (MEN) ty pe 2 A, first diagnosed in 1980. This family is enrolled in our screen ing 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 D NA was genetically tested for detecting RET mutations. Thanks to the c ombination of these two approaches it was possible to confirm the diag nosis 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 muta tion 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. (C) 1998, Editri ce Kurtis.