Related Experiment Videos
Multiple endocrine neoplasia type 2B
1Department of Urology, Ashikaga Red Cross Hospital, Ashikaga, Japan. zai23910@oak.zero.ad.jp
Abstract:
We report a case of multiple endocrine neoplasia type 2B (MEN 2B) in a 30-year-old woman. There was no family history of MEN 2B in her family. DNA testing was carried out and a point mutation was found in exon 16, codon 918 (ATG to ACG) in the RET proto-oncogene. The woman died of medullary thyroid carcinoma, 13 years after a total thyroidectomy.
Insights
Multiple Endocrine Neoplasia type 2B (MEN 2B) was diagnosed in a woman with a RET proto-oncogene mutation. This genetic finding highlights MEN 2B
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Multiple Endocrine Neoplasia type 2B (MEN 2B) is a rare genetic disorder.
- MEN 2B is characterized by medullary thyroid carcinoma, pheochromocytomas, and ganglioneuromas.
- Early diagnosis and genetic testing are crucial for managing MEN 2B.
Observation:
- A 30-year-old woman presented with no family history of MEN 2B.
- She was diagnosed with MEN 2B.
- She underwent a total thyroidectomy.
Findings:
- DNA testing revealed a specific point mutation (ATG to ACG) in exon 16, codon 918 of the RET proto-oncogene.
- This RET proto-oncogene mutation is a known driver of MEN 2B.
Implications:
- The identified RET mutation confirms the genetic basis of MEN 2B in this patient.
- The case underscores the importance of genetic testing for MEN 2B, even in the absence of a family history.
- Understanding the RET proto-oncogene's role is vital for targeted therapies and improved patient outcomes in MEN 2B.