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.
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.
Authors: G Pinna; G Orgiana; C Carcassi; F Alba; F Cetani; E Pardi; C Marcocci; S Mariotti Journal: J Endocrinol Invest Date: 2004-06 Impact factor: 4.256
Authors: Diala El-Maouche; James Welch; Sunita K Agarwal; Lee S Weinstein; William F Simonds; Stephen J Marx Journal: Int J Endocr Oncol Date: 2016-04-08
Authors: J W Cardinal; L Bergman; N Hayward; A Sweet; J Warner; L Marks; D Learoyd; T Dwight; B Robinson; M Epstein; M Smith; B T Teh; D P Cameron; J B Prins Journal: J Med Genet Date: 2005-01 Impact factor: 6.318
Authors: Paraskevi Xekouki; Ana Brennand; Ben Whitelaw; Karel Pacak; Constantine A Stratakis Journal: Horm Metab Res Date: 2018-10-01 Impact factor: 2.936
Authors: Hilde Dannenberg; Paul Komminoth; Winand N M Dinjens; Ernst Jan M Speel; Ronald R de Krijger Journal: Endocr Pathol Date: 2003 Impact factor: 3.943
Authors: O Vierimaa; A Villablanca; A Alimov; M Georgitsi; A Raitila; P Vahteristo; C Larsson; A Ruokonen; E Eloranta; T M L Ebeling; J Ignatius; L A Aaltonen; J Leisti; P I Salmela Journal: J Endocrinol Invest Date: 2009-03-26 Impact factor: 4.256
Authors: Carolina R C Pieterman; Samuel M Hyde; Si-Yuan Wu; Jace P Landry; Yi-Ju Chiang; Ioannis Christakis; Elizabeth G Grubbs; Sarah B Fisher; Paul H Graham; Steven G Waguespack; Nancy D Perrier Journal: Surgery Date: 2020-07-20 Impact factor: 3.982