|
|||||
|
|
Multiple endocrine neoplasia type 2B |
|
| Authors: | Seiji Nakata Hironobu Okugi Yoshitaka Saitoh Hirotomo Takahashi Kazuhiko Shimizu |
| Affiliation: | Department 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. |
| Keywords: | hereditary disease medullary thyroid carcinoma multiple endocrine neoplasia type 2B pheochromocytoma |