J. E. Gosnell MD; M. S. Sywak MB BS, FRACS; S. B. Sidhu PhD, FRACS; I. R. Gough MD, FRACS; D. L. Learoyd PhD, FRACP; B. G. Robinson PhD, FRACP; L. W. Delbridge MD, FRACS.
NEW ERA: PROPHYLACTIC SURGERY FOR PATIENTS WITH MULTIPLE ENDOCRINE NEOPLASIA-2A
Article first published online: 26 JUN 2006
ANZ Journal of Surgery
Volume 76, Issue 7, pages 586–590, July 2006
How to Cite
Gosnell, J. E., Sywak, M. S., Sidhu, S. B., Gough, I. R., Learoyd, D. L., Robinson, B. G. and Delbridge, L. W. (2006), NEW ERA: PROPHYLACTIC SURGERY FOR PATIENTS WITH MULTIPLE ENDOCRINE NEOPLASIA-2A. ANZ Journal of Surgery, 76: 586–590. doi: 10.1111/j.1445-2197.2006.03783.x
- Issue published online: 26 JUN 2006
- Article first published online: 26 JUN 2006
- Accepted for publication 28 February 2006.
- medullary thyroid carcinoma;
- total thyroidectomy
Background: The surgical management of patients with multiple endocrine neoplasia-2A (MEN-2A) continues to evolve with specific genotype–phenotype correlations allowing for a more tailored approach. In this study, we report the surgical management of one of the largest MEN-2A families with a rearranged during transfection (RET) codon 804 mutation.
Method: This is a cohort study comprising all at-risk kindred within a single known MEN-2A family. Prophylactic total thyroidectomy with lymph node dissection was recommended to all mutation carriers aged 5 years and older.
Results: There were a total of 48 at-risk individuals in the MEN-2A kindred, with 22 patients undergoing thyroidectomy after appropriate preoperative evaluation. A total of 9 patients had medullary thyroid cancer including 5 with a normal preoperative calcitonin level. A total of 11 patients had C-cell hyperplasia and 7 showed histological evidence of parathyroid disease. Only the index case had a phaeochromocytoma.
Conclusion: Genetic testing for germline mutations in the RET proto-oncogene has allowed precise identification of affected RET carriers and provided the opportunity for prophylactic or ‘preclinical’ surgery to treat and in fact to prevent medullary thyroid cancer. This concept of prophylactic surgery based on a genetic test is likely to be applied more widely as the tools of molecular biology advance.