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This version published online on May 3, 2005
Journal of Clinical Endocrinology & Metabolism, doi:10.1210/jc.2004-1759
A more recent version of this article appeared on July 1, 2005
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Submitted on September 3, 2004
Accepted on April 25, 2005

Coincidence of multiple endocrine neoplasia type 1 and 2: mutations in the RET proto-oncogene and MEN1 tumor suppressor gene in a family presenting with recurrent primary hyperparathyroidsm*

Karin Frank-Raue*, Susanne Rondot, Wolfgang Hoeppner, Peter Goretzki, Friedhelm Raue, and Wieland Meng

Endocrine practice, Heidelberg, Germany; Institute of Hormone Research, Hamburg, Germany; Department of Surgery, Neuss, Germany,; Department of Internal Medicine, University of Greifswald, Germany

* To whom correspondence should be addressed. E-mail: karin.frankraue{at}raue-endokrinologie.de.

Context: Primary hyperparathyroidism (HPT) presents as a part of inherited syndromes such as multiple endocrine neoplasia type 1 and type 2 (MEN1, MEN2). In patients with MEN1, parathyroid hyperplasia or multiple adenomas occur in approximately 90-95%. MEN2A-related HPT is characterized by a mild hypercalcemia which is mostly asymptomatic.

Objective: Here we present a family with coexistence of MEN1 gene mutation and RET mutation.

Results: Six family members carrying MEN1 gene mutation IVS5 + 1G>A only, one family member with RET mutation Y791F and three family members with both MEN1 gene- and RET mutation. The key to diagnosis was recurrent HPT in a young male carrying RET mutation Y791F, a mutation not likely to give rise to recurrent HPT.

Conclusion: MEN1 gene mutation and RET codon 791 mutation in the same patient did not affect the typical phenotype of MEN1 or MEN2 and also the course of diseases seems to be unchanged. The reason for that may be that both mutations, although contributing to tumor pathogenesis, do not interact and induce a worsening of the cancer syndromes.




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