Adrenal involvement in multiple endocrine neoplasia type 1

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.