Medullary thyroid cancer is a rare cancer and comprises 1-2% of the thyroid cancers in the US. Importantly, medullary thyroid cancer has a clear genetic component with RET oncogene and mutations in the RET gene cause this cancer. Medullary thyroid cancer can occur by itself (sporadic) or can run in families by itself or as part of a genetic syndrome. One important genetic syndrome is Multiple Endocrine Neoplasia type 2A, which includes medullary thyroid cancer, an adrenal tumor known as a pheochromocytoma, and parathyroid adenomas that lead to hyperparathyroidism. Almost all patients with MEN2A develop medullary thyroid cancer at some point in their life.
We have come to understand not all RET mutations are the same – that only some mutations correspond to risk of early development of medullary thyroid cancer and that others correlate with more aggressive medullary thyroid cancer. The 2015 American Thyroid Association guidelines for management of medullary thyroid cancer categorize MEN2A mutations into 3 categories – low, moderate, and high risk. This study examined the association of these mutations with the aggressiveness of the cancer.
THE FULL ARTICLE TITLE:
Voss RK et al Medullary thyroid carcinoma in MEN2A: ATA moderate- or high-risk RET mutations do not predict disease aggressiveness. J Clin Endocrinol Metab 2017;102:2807-13.
SUMMARY OF THE STUDY
At MD Anderson, 262 MEN2A patients with a moderate or high-risk medullary thyroid cancer mutation and medullary thyroid cancer were examined.