We evaluated the effects of screening for multiple endocrine neoplasia type 2A (MEN-2A) in 12 families. Genealogical studies going back to 1730 show a common ancestry for seven Swedish families and one American family. The total number of patients included 105 individuals, 68 of whom were diagnosed by our screening program. Our screening methods for medullary carcinoma of the thyroid (MTC) had an optimal sensitivity and specificity. The frequency of gene carriers detected in MEN-2A families was 55%. Screening will lead to early diagnosis and early therapy, which in turn, will significantly decrease morbidity, incidence of surgical complications, and mortality related to the tumors of this hereditary syndrome.
Telenius-Berg, Margareta; Berg, Bertel; Hamberger, Bertil; Tibblin, Sten; Tisell, Lars-Erik; Ysander, Lars; and Welander, Gunnar
"Impact of Screening on Prognosis in the Multiple Endocrine Neoplasia Type 2 Syndromes: Natural History and Treatment Results in 105 Patients,"
Henry Ford Hospital Medical Journal
: Vol. 32
Available at: https://scholarlycommons.henryford.com/hfhmedjournal/vol32/iss4/5