Untying the Next Genetic Thread in a Family With MEN2A Syndrome: A Case Report

Area of Science:

• Endocrinology
• Genetics
• Oncology

Background:

• Multiple Endocrine Neoplasia type 2A (MEN2A) is a rare autosomal dominant disorder.
• It is characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, and primary hyperparathyroidism.
• Early genetic screening is essential for effective management.

Purpose of the Study:

• To report a familial case of MEN2A across two generations.
• To highlight the variable clinical presentation and genetic penetrance of MEN2A.
• To underscore the importance of genetic screening in MTC patients and their relatives.

Main Methods:

• Case report of a four-member family with MEN2A.
• Clinical evaluation including diagnosis of MTC and pheochromocytoma.
• Genetic testing for RET mutations.

Main Results:

• Four family members across two generations were affected by MEN2A.
• Variable clinical presentations and penetrance were observed.
• One patient tested positive for a RET mutation, while another had negative genetic testing despite symptoms.

Conclusions:

• MEN2A exhibits variable clinical manifestations and genetic penetrance within families.
• Genetic screening for MEN2A is crucial for all MTC patients and their first-degree relatives.
• Early identification of carriers allows for prophylactic interventions and improved outcomes.