Multiple endocrine neoplasia type 2A: case report

Area of Science:

• Genetics
• Endocrinology
• Oncology

Background:

• Multiple endocrine neoplasia type 2A (MEN 2A) is an autosomal dominant inherited disorder.
• It is characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, and parathyroid hyperplasia.
• Diagnosis often requires identifying germline RET mutations or family history when clinical features are incomplete.

Observation:

• A family with MEN 2A syndrome was investigated.
• Genetic analysis identified a RET gene mutation at codon 634 in both a 48-year-old father and his 20-year-old daughter.
• The daughter was the initial case, diagnosed with pheochromocytoma at age 19, with the father diagnosed later with MTC.

Findings:

• The study confirmed MEN 2A in the family through genetic testing.
• A specific RET gene mutation (codon 634) was identified in affected father and daughter.
• The daughter presented with earlier onset and a different initial manifestation (pheochromocytoma) compared to the father (MTC).

Implications:

• This case highlights the importance of genetic screening in families with suspected MEN 2A.
• The findings support the phenomenon of anticipation in MEN 2A, where successive generations exhibit earlier onset and increased severity.
• Earlier diagnosis and intervention are crucial, especially given the potential for worse prognosis in earlier-onset cases.