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Article: Emma Tham, Ulla Grandell, Eva Lindgren, Göran Toss, Britt Skogseid, and Magnus Nordenskjöld Clinical testing for mutations in the MEN1 gene in Sweden, a report on 200 unrelated cases J Clin Endocrinol Metab 2007; 0: jc.2007-0476v1 [Abstract]

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Novel mutations in the MEN1 gene in patients with multiple endocrine neoplasia-1

Karsten Müssig   (1 August 2007)

Novel mutations in the MEN1 gene in patients with multiple endocrine neoplasia-1 1 August 2007
Karsten Müssig, M.D. Department of Endocrinology, Metabolism and Pathobiochemistry, University Hospital of Tübingen Send letter to journal: Re: Novel mutations in the MEN1 gene in patients with multiple endocrine neoplasia-1 karsten.muessig{at}med.uni-tuebingen.de Karsten Müssig	Tham et al. (1) identified 18 novel mutations in the multiple endocrine neoplasia type 1 (MEN1) gene, including a missense Leu256Phe mutation in exon 4. We recently found the same mutation in a 42-year-old German woman with parathyroid hyperplasia, multiple well-differentiated neuroendocrine pancreatic tumors, right adrenal adenoma, nodular hyperplasia of the left adrenal, pituitary microadenoma, and dermatofibroma. The patient’s father had the same MEN1 mutation and had been diagnosed with parathyroid hyperplasia at age 65 as well as a well-differentiated glucagon and pancreatic polypeptide-expressing neuroendocrine pancreatic tumor at age 67. After genetic family screening, no other first-degree relatives were found to be affected. Our findings are in agreement with the data reported by Tham et al. (1), showing considerable variation in clinical expression within families with MEN1 mutations. Our index patient fulfilled the criteria by Tham et al. (1) to be screened for MEN1 mutations, having several typical endocrine tumors at diagnosis, a first degree relative with a major endocrine tumor, multiple pancreatic tumors, and parathyroid hyperplasia. Reference 1. Tham E, Grandell U, Lindgren E, Toss G, Skogseid B, Nordenskjold M. 2007. Clinical testing for mutations in the MEN1 gene in Sweden, a report on 200 unrelated cases. J Clin Endocrinol Metab [Jul 2007; doi:10.1210/jc.2007-0476]