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Multiple Endocrine Neoplasia Type 1 Variant with Frequent Prolactinoma and Rare Gastrinoma

Metabolic Diseases Branch (W.H., M.C.S., W.F.S., L.S.W., S.K.A., C.M., L.J.-N., S.J.M.) and Digestive Diseases Branch (F.G., R.T.J.), National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892; and Department of Community Medicine and Statistics (G.R.H.), West Virginia University School of Medicine, Morgantown, West Virginia 26506

Address all correspondence and requests for reprints to: Stephen J. Marx, M.D., Building 10, Room 9C-101, National Institutes of Health, 9000 Rockville Pike, Bethesda, Maryland 20892. E-mail: stephenm{at}intra.niddk.nih.gov.

No variant of multiple endocrine neoplasia type 1 (MEN1) has been reproducible among families. We examined two large kindreds with MEN1 variants, and we compared these to past reports. The two kindreds were followed up for 20–30 yr with MEN1 tumors in 30 members.

Results in cases from two kindreds were that 93% showed parathyroid adenoma, 40% pituitary tumor (always prolactinoma), and 27% enteropancreatic endocrine tumor. The latter included 10% insulinoma, 7% nonfunctioning islet tumor, but only 10% gastrinoma. Compared with prior large series, this lower prevalence of gastrinoma (10% vs. 42%, P < 0.01) and higher prevalence of prolactinoma (40% vs. 22%, P < 0.01) define this variant. Many possible biases of retrospective analyses were excluded as possible explanations. Previously sequenced DNA showed no characteristic MEN1 mutation in these two kindreds and in a third, reported previously; the lack of any shared MEN1 mutation also excluded common ancestry for MEN1 among the three kindreds. The causes for differences between this variant and typical MEN1 are unknown.

In conclusion, this variant shows more frequent prolactinoma and less frequent gastrinoma than typical MEN1; the variant is reproducible among kindreds. MEN1 carriers in such families should have periodic monitoring adjusted for the expected penetrance of tumors.

Abbreviations: CT, Computed tomography; HPT, hyperparathyroidism; MEN1, multiple endocrine neoplasia type 1; MRI, magnetic resonance imaging; ZES, Zollinger Ellison syndrome.

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