Elsevier

Surgery

Volume 124, Issue 6, December 1998, Pages 1106-1114
Surgery

American Association of Endocrine Surgeons
The variable penetrance and spectrum of manifestations of multiple endocrine neoplasia type 1,☆☆

Presented at the 19th Annual Meeting of the American Association of Endocrine Surgeons, Orlando, Fla, Apr 26-28, 1998.
https://doi.org/10.1067/msy.1998.93107Get rights and content

Abstract

Background: Some experts maintain that (1) >90% of patients with multiple endocrine neoplasia type 1 (MEN1) are first seen with hyperparathyroidism (HPTH) so that routine screening for other features is unnecessary and (2) MEN1 has ≥94% penetrance by age 50 years. Methods: We constructed a regional registry of patients with or at risk for MEN1 and examined phenotypic profiles in 34 patients. MEN1 was defined as (1) endocrinopathy of 2 of the 3 principal related tissues (parathyroid, gastrointestinal endocrine, pituitary) or (2) 1 such feature plus a first-degree relative with MEN1. Results: The initial feature of MEN1 was HPTH in 50%, pituitary tumor in 18%, and gastrointestinal endocrine tumor in 32% of patients, with overall incidences of 82%, 65%, and 74%, respectively. HPTH developed by age 50 years in 73% of patients and by age 70 years in 83%. Penetrance of MEN1 at age 50 years was 82%. Associated features included renal (1) and rectal (1) cancer, malignant thymic carcinoid (1), and malignant pheochromocytoma (1). Conclusions: Expression of MEN1 can vary considerably from established patterns. In our geographic region HPTH does not routinely precede other features of MEN1 and cannot be used to distinguish affected patients among those at risk. MEN1 can be inapparent until late in life and may be significantly underdiagnosed. (Surgery 1998;124:1106-14.)

Section snippets

Patient population

From 1993 to 1998, under a clinical research protocol approved by our Institutional Review Board, the authors prospectively evaluated 18 patients considered to have MEN1 or to be at risk for the disorder. Evaluations were conducted in a multidisciplinary forum by coinvestigators in endocrinology, endocrine surgery, human genetics, and associated disciplines and included in-depth medical history, examination, review of pertinent records and surgical and autopsy tissues, and family history with

Diagnosis of MEN1

With use of the above definitions, clear evidence for diagnosis of MEN1 was identified in 34 patients from 25 families. Of these patients, 19 were female and one was African American; 17 were index patients and 17 were first-degree relatives. Prospective evaluation of these patients and families identified a total of 61 pedigree members with MEN1, and another 85 first-degree relatives await further evaluation for MEN1, but to clarify as much as possible the demographic conclusions presented

Discussion

This prospective study has helped to define the variable penetrance and spectrum of manifestations of MEN1 at a large eastern metropolitan medical center. The mean age at diagnosis in this study was 40.7 years, a figure that probably typifies the high proportion of index patients in this study whose MEN1 diagnosis followed the development of clinical symptoms. When MEN1 is diagnosed in screened asymptomatic patients, mean age drops significantly to 24.8 years.4 Demographic characterization

Acknowledgements

We thank Lisa Streb, RN, Mona Penles Stadler, MS, and Douglas Weidner for their expert help in coordinating and facilitating this research. We also thank the staff and nurses of the General Clinical Research Center and the many patients and family members who generously gave their time and interest to this project.

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    Supported in part by NIH/NCRR/GCRC grant No. 5M01RR00056 and the Carrie L. Hughes Endocrine Genetics Research Fund.

    ☆☆

    Reprint requests: Sally E. Carty, MD, FACS, 497 Scaife Hall, Department of Surgery, University of Pittsburgh, PA 15261.

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