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An unusual presentation of MEN2A
1Department of Medicine, University Hospital Galway, Galway, Ireland. ruthcasey232@gmail.com
BMJ Case Reports
|June 11, 2013
Summary
This case highlights an unusual presentation of multiple endocrine neoplasia type 2A (MEN2A) syndrome in a woman with metastatic medullary thyroid cancer and cutaneous metastases. Early genetic counseling for relatives is crucial for timely diagnosis and improved outcomes.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Multiple endocrine neoplasia type 2A (MEN2A) is a rare genetic disorder characterized by medullary thyroid carcinoma, pheochromocytoma, and parathyroid hyperplasia.
- Early diagnosis and management are crucial to prevent disease progression and improve patient outcomes.
Observation:
- A 35-year-old woman presented with fatigue, weight loss, and bilateral adrenal masses, initially diagnosed as metastatic cancer.
- Histology confirmed metastatic medullary thyroid cancer with unusual cutaneous metastases.
- Biochemical tests revealed hyperparathyroidism and elevated urinary metanephrines, alongside a confirmed RET oncogene mutation.
Findings:
- The patient was diagnosed with MEN2A syndrome, despite lacking a family history and presenting with widespread metastatic disease.
- The presence of cutaneous metastases in conjunction with metastatic medullary thyroid cancer is a rare finding.
Implications:
- This case underscores the importance of considering MEN2A in patients with metastatic medullary thyroid cancer, even with atypical presentations.
- Genetic counseling and screening for first-degree relatives are vital for early detection and intervention, reducing morbidity and mortality associated with MEN2A.
- The unusual presentation emphasizes the need for comprehensive diagnostic approaches in endocrine oncology.
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