Screening for MEN1 mutations in patients with atypical endocrine neoplasia

Background. Most patients from typical multiple endocrine neoplasia type 1 (MEN 1) kindreds harbor mutations in the MEN-I gene, MEN1. We hypothesized that some patients with atypical endocrine neoplasia would also have mutati ons in MEN1. Methods. DNA sequencing analysis of mutations in the coding region of MEN1 was performed with genomic DIVA obtained from peripheral blood lymphocytes in a total of 21 patients who had: typical MEN 1 (n = 8), clinical features suggestive of MEN 1 but without a family history of endocrinopathy (n = 7) , and atypical endocrine neoplasia and a family history of endocrinopathy s uggestive of MEN 1 (n = 6). Results, All 8 patients with typical MEN 1 had mutations in MEN1. None of t he 7 patients with features of MEN 1, but without a family history of endoc rinopathy, had a MEN1 mutation. In contrast, 4 of 6 patients with atypical endocrine neoplasia that included components of MEN 1 and a family history of endocrinopathy had mutations in MEN1, including 2 patients with pheochro mocytoma. Conclusions. Genomic mutations in MEN1 may frequently be identified in pati ents with atypical endocrine neoplasia, especially in the setting of a fami ly history of endocrinopathy. Atypical presentations of MEN 1 may include p heochromocytoma.