Screening for MEN1 mutations in patients with atypical endocrine neoplasia. Surgery 1999 Dec;126(6):1097-103; discussion 1103-4
Date
12/22/1999Pubmed ID
10598193DOI
10.1067/msy.2099.101376Scopus ID
2-s2.0-0032756819 (requires institutional sign-in at Scopus site) 52 CitationsAbstract
BACKGROUND: Most patients from typical multiple endocrine neoplasia type 1 (MEN1) kindreds harbor mutations in the MEN-1 gene, MEN1. We hypothesized that some patients with atypical endocrine neoplasia would also have mutations in MEN1.
METHODS: DNA sequencing analysis of mutations in the coding region of MEN1 was performed with genomic DNA obtained from peripheral blood lymphocytes in a total of 21 patients who had: typical MEN1 (n = 8), clinical features suggestive of MEN1 but without a family history of endocrinopathy (n = 7), and atypical endocrine neoplasia and a family history of endocrinopathy suggestive of MEN1 (n = 6).
RESULTS: All 8 patients with typical MEN1 had mutations in MEN1. None of the 7 patients with features of MEN1, but without a family history of endocrinopathy, had a MEN1 mutation. In contrast, 4 of 6 patients with atypical endocrine neoplasia that included components of MEN1 and a family history of endocrinopathy had mutations in MEN1, including 2 patients with pheochromocytoma.
CONCLUSIONS: Genomic mutations in MEN1 may frequently be identified in patients with atypical endocrine neoplasia, especially in the setting of a family history of endocrinopathy. Atypical presentations of MEN1 may include pheochromocytoma.
Author List
Dackiw AP, Cote GJ, Fleming JB, Schultz PN, Stanford P, Vassilopoulou-Sellin R, Evans DB, Gagel RF, Lee JEAuthor
Douglas B. Evans MD Chair, Professor in the Surgery department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Adrenal Gland NeoplasmsDNA Mutational Analysis
Family Health
Female
Genetic Testing
Humans
Male
Multiple Endocrine Neoplasia Type 1
Mutation
Neoplasm Proteins
Pancreatic Neoplasms
Pedigree
Pheochromocytoma
Proto-Oncogene Proteins
Radiography
Restriction Mapping
