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Multiple endocrine neoplasia 2B: delayed presentation, rapid diagnosis
Karthik Balachandran1, Sadishkumar Kamalanathan, S Gopalakrishnan
1Department of Endocrinology, Jawaharlal Institute of Post Graduate Medical Education & Research, Puducherry, India.
BMJ Case Reports
|May 7, 2013
Summary
Multiple endocrine neoplasia type 2B (MEN 2B) can present later in life with metastatic medullary thyroid carcinoma. This case highlights the importance of screening for phaeochromocytoma in all medullary thyroid carcinoma patients.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Multiple endocrine neoplasia (MEN) involves tumors in two or more endocrine organs.
- MEN 2B is characterized by medullary thyroid carcinoma, phaeochromocytoma, and specific physical features.
- Germline mutations in the RET proto-oncogene drive MEN 2B, typically presenting in childhood.