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Adrenal involvement in multiple endocrine neoplasia type 1
Peter Langer1, Kenko Cupisti, Detlef K Bartsch
1Department of Surgery, Philipps-University Hospital, Baldingerstrasse, D-35043 Marburg, Germany. langerp@mailer.uni-marburg.de
Abstract:
Adrenal lesions belong to the spectrum of multiple endocrine neoplasia type 1 (MEN-1) syndrome. However, the prevalence of adrenal involvement, the characteristics, and the clinical management of adrenal lesions have not yet been clearly defined. A total of 66 patients with confirmed MEN1 germline mutations and 1 additional patient with typical manifestations in three organ systems were monitored in a regular screening program that included evaluation of the adrenals (median follow-up 96 months; range 12 to 300 months). Age at the diagnosis of MEN-1 and of adrenal tumors and the clinical characteristics, genotype, treatment, and follow-up of adrenal disease were analyzed. Adrenal lesions were identified in 18 of 67 (26.8%) MEN-1 patients and were diagnosed 5 years later than MEN-1. The median tumor diameter at diagnosis was 3.0 cm (range 1.2-15.0 cm), with most tumors being 3 cm or smaller. Eight patients had bilateral tumors. Ten patients had nonfunctional benign tumors, three had benign adrenal Cushing syndrome, and one patient had a pheochromocytoma. Four patients developed adrenocortical carcinomas (ACCs), three of which were functional. Nine adrenalectomies and one subtotal adrenalectomy were performed in six patients. Three patients with ACC died owing to the tumor. Patients with mutations in exons 2 and 10 developed adrenal tumors significantly more often than patients with other mutations (p <0.01). Adrenal tumors are a common feature of MEN-1 but occur later in the course of the disease. The lesions are often small and nonfunctional and can therefore be managed by close surveillance; others have significant malignant potential and should be considered for surgery when they are 3 cm or larger.
Insights
Adrenal lesions are common in multiple endocrine neoplasia type 1 (MEN-1) syndrome, often appearing later and usually small. Close surveillance is recommended for nonfunctional tumors, while larger or malignant lesions require surgical consideration.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Multiple endocrine neoplasia type 1 (MEN-1) syndrome is associated with adrenal lesions, but their characteristics and management remain unclear.
- Understanding adrenal involvement in MEN-1 is crucial for patient care and prognosis.
Purpose of the Study:
- To define the prevalence, characteristics, and clinical management of adrenal lesions in patients with MEN-1.
- To identify potential genotype-phenotype correlations related to adrenal tumor development in MEN-1.
Main Methods:
- A longitudinal screening study of 67 patients with confirmed MEN-1 germline mutations.
- Analysis of age at diagnosis, clinical features, genotype, treatment, and follow-up of adrenal lesions.
- Evaluation of tumor size, functionality, bilaterality, and malignancy.
Main Results:
- Adrenal lesions were found in 26.8% of MEN-1 patients, diagnosed a median of 5 years after MEN-1 diagnosis.
- Most lesions were small (≤3 cm), nonfunctional, and benign; however, four adrenocortical carcinomas (ACCs) developed.
- Mutations in exons 2 and 10 were significantly associated with higher rates of adrenal tumor development (p <0.01).
Conclusions:
- Adrenal tumors are a common, albeit late-onset, manifestation of MEN-1.
- Small, nonfunctional adrenal lesions can be managed with surveillance, while larger or malignant tumors warrant surgical intervention.
- Genetic mutations in specific exons influence adrenal tumor risk in MEN-1 patients.