Hurthle Cell Cancer of the Thyroid: Genetics and Special Cases
In Hurthle cell cancer of the thyroid, there is a growing literature about the genes that may be abnormal and we have been involved in some of the ground breaking research in this area. Nevertheless, Hurthle cell cancer genetic analysis is rarely indicated in the evaluation of patients with previously untreated hurthle cell cancers, hurthle cell lesions, or hurthle cell neoplasms of the thyroid. .
Hurthle cell cancer genetics is some really technical and complicated stuff that rarely will play a role in the evaluation, diagnosis or treatment of hurthle cell cancer patients unless the cancer has come back or spread to sites outside of the neck (distant sites). Then further genetic analysis with commercially available Foundation One studies can be considered to examine for alternative targeted systemic approaches.
Hurthle cell cancers are rarely hereditary. In fact, I do not believe I have ever seen any hurthle cell cancer patient with a history of a direct relative with a hurthle cell cancer. So you should generally not be concerned about the risk to your children. If you have a concern, then please discuss this with your doctor.
Hurthle Cell Cancer: What is Known About Their Associated Genetic Mutations?
Hurthle cell cancer genetic abnormalities are rapidly becoming well identified following the human genome project and the cancer genome project. (Ganly I, Rocarte F, et al. Genomic dissection of Hurthle cell carcinoma reveals a unique class of thyroid malignancy. J Clin Endocrinol Metab. 2013 May. 98(5):E962-72.)
- Hurthle cell cancer and its variants more commonly reveal RAS mutations or PAX8/PPAR gamma rearrangements. But importantly, these mutations can also be found in benign hurthle cell tumors as well. Do not be lulled into a sense of safety when a needle biopsy of your thyroid shows hurtle cells and the genetic analysis suggests a benign tumor. Although genetic advances continue with commerically available testing, we continue to see hurthle cell cancers called benign on genetic testing and then final pathology of the removed hurthle cell tumor clearly identifies a hurhtle cell cancer.
- Aggressive hurthle cell cancer variants are potentially suggested by mutations of the p53 or PI3kinase genes. To date, identifying these mutations does not translate to any specific treatment approaches and should not direct therapy above what is seen under the microscope (pathology) and Xray findings.