Management of medullary thyroid cancer: the disease again may present with symptoms or with a thyroid nodule. I don’t screen all my thyroid nodule patients with calcitonin levels but frequently the cytology will suggest that that’s what’s going on. If we do suspect it before surgery then certainly a pheochromocytoma should be ruled out by the appropriate urine studies. We mentioned the major treatment is total thyroidectomy with central node dissection. There’s a lot of controversy in terms of management of residual disease regarding chemotherapy or not. As far as the familial issue, a not uncommon situation now is that one has diagnosed somebody with medullary thyroid cancer, there may not be a family history, but still the question arises; maybe there is incomplete penetrance, maybe this has been a germ line mutation in an ancestor that is only now becoming apparent.
The genes for MEN IIa IIb and familial medullary thyroid cancer have been identified. They are all associated with alterations in the red oncogene and it can be screened for. So my practice in the follow-up of a patient who has presented with medullary thyroid cancer is to do the screening for red oncogene rearrangements in the presenting patient. If that is negative, then I think you can be reasonably confident that it is unlikely to be a familial case and you don’t need to go to great lengths to screen the rest of the family. On the other hand, if the screen for red oncogene rearrangements is positive, then certainly a full evaluation of the rest of the family should be followed out. Although I didn’t put the data on here, one of the significant factors in terms of cure of patients with the familial disease is early surgery. So in somebody who you have identified as having a oncogene present for this, I would recommend thyroidectomy be done as reasonably quickly as possible without waiting for the presence of either hyper-calcitonemia or certainly not for the presence of a thyroid nodule.
The multiple endocrine neoplasia syndromes, IIa: hyperparathyroidism, pheo, medullary thyroid cancer. IIb: the mucosal neuromas, pheo, and medullary thyroid cancer. And just for completion, type I is the three P’s. The important thing to remember about the P’s is that pheochromocytoma, although it begins with a P is not one of the P’s in type I but it is the combination of hyperparathyroidism, pancreatic islet cell neoplasms and pituitary neuroendocrine neoplasms. The gene for the type I syndrome was identified recently. I don’t know if there are any commercial screening kits available for it yet, but Steve Marks at the NIH has done excellent work in this area. And if you ever had a case, if you can’t find the screening test – if it’s not commercially available – I would give him a call and he would probably be able to help you out.
I’ll sort of give you a choice here which is; Bob has asked me to throw in a few slides on adrenal cancer, and I did. And the choice we have is that we can either break now and this is it, or if you are really anxious to hear about adrenal cancer, we could do that for five minutes. But … do it? Okay.