Multiple endocrine neoplasia type 2A: a 25-year review

Area of Science:

• Endocrinology
• Pediatric Oncology
• Genetics

Background:

• Treatment for thyroid lesions in multiple endocrine neoplasia (MEN) has shifted from physical findings to biological markers and now DNA testing.
• This study reviews 22 children with MEN-2A over 25 years, focusing on thyroid management and outcomes.

Purpose of the Study:

• To evaluate the effectiveness of calcitonin (CT) levels in diagnosing medullary thyroid carcinoma (MTC) in children with MEN-2A.
• To determine the optimal timing for thyroid surgery in pediatric MEN-2A patients.
• To assess the incidence of C cell hyperplasia (CCH) versus MTC and recurrent disease (MTC-REC).

Main Methods:

• A retrospective review of 22 children with MEN-2A who underwent total thyroidectomy.
• Analysis of basal and stimulated calcitonin (CT) levels.
• Correlation of CT levels with histopathological findings (CCH, MTC, MTC-REC).

Main Results:

• Medullary thyroid carcinoma (MTC) developed in 77% of patients, with 24% experiencing recurrent disease.
• Basal and stimulated CT levels showed significant overlap between C cell hyperplasia (CCH) and MTC, failing to reliably differentiate the conditions.
• Postoperative hypoparathyroidism occurred in 18% initially, but improved to 6.7% with later surgical approaches.

Conclusions:

• Calcitonin levels are unreliable for determining the timing of thyroid surgery in children with MEN-2A.
• Early surgical intervention based on molecular genetic testing is recommended for children with MEN-2A.
• Modern surgical techniques have reduced postoperative complications.