Thyroid cancer is the most rapidly increasing type of cancer in the U.S, with 63-thousand new cases diagnosed in the past year. Traditionally, doctors diagnose thyroid cancer with a fine needle biopsy- a painful procedure that is only accurate fifty percent of the time-meaning additional surgery for some patients. As Martie salt shows us, researchers have developed a new test that improves diagnosis - the first time around.
Thirty-eight year old Kris Provence is an avid outdoorsman.
But when Kris discovered a lump in his neck earlier this year- it stopped him in his tracks.
"The first word I thought of was cancer. And that scared me to death." Kris Provence told Ivanhoe.
Kris tested positive – but the numbers were on his side. Thyroid cancer has a ninety-seven percent five-year survival rate. Also in his favor – a new diagnostic tool.
Doctor Linwah Yip has studied the use of a molecular testing panel researchers say improves diagnosis by thirty percent.
"We take the cells from the biopsy and we actually put them through genetic testing – looking for mutations or gene changes that are often found in thyroid cancer." Linwah Yip, M.D., Associate Professor of Surgery, Surgical Oncologist and Endocrinologist at UPMC told Ivanhoe.
Before molecular testing, patients who had unclear results after a biopsy- needed surgery to remove half the thyroid. Then if doctors found cancer – a second surgery would be necessary
Doctors say the molecular panel reduces that burden.
"It saves them time off of work. It saves them trips to the hospital – additional testing if we need it," said Dr. Yip.
One surgery – and months later, Kris is cancer-free.
"I feel like a million dollars." Provence said.
Doctor Yip says surgeons don't automatically remove the entire thyroid unless cancer is confirmed because the patient would then become dependent upon thyroid medication for the rest of his life. While the molecular testing is not the gold standard for diagnosis, yet, the American thyroid association has changed its guidelines to add that doctors may consider using the molecular "markers" when the initial biopsy is inconclusive.
BACKGROUND: Thyroid cancer, while more common in adult women than men and youth, occurs 2/3 of the time in people under the age 55. Past radiation of the torso and head may increase the risk of thyroid cancer; however, the occasional x-ray at the dentist is not a concern. Symptoms of the cancer may include: swelling of the neck (most common), pain in the neck or ears, trouble swallowing or breathing, a cough not associated with a cold and a hoarse voice. The exact cause of thyroid cancer is unknown, however, like most cancers, genetic changes in DNA may play a role. There are four types of thyroid cancer, listed from most common to least common, respectively: papillary, follicular, medullary, and anaplastic.
(Source: http://www.medicinenet.com/thyroid_disorders/page3.htm#thyroid_cancer, http://www.webmd.com/cancer/tc/thyroid-cancer-topic-overview, http://www.medicinenet.com/thyroid_cancer/page3.htm#what_are_the_different_types_of_thyroid_cancer)
TREATMENT: Cancer of the thyroid can be treated four different ways: Surgery to remove the cancerous portion of the thyroid, radiation therapy, hormone therapy, and chemotherapy. Treatment options are made by a physician based on the type and stage of the cancer as well as the patients overall health and age. It may be that a particular thyroid cancer requires more than one treatment. Radioactive iodine is often used after surgery, to destroy any remaining thyroid tissue; it is imperative to note the risks and precautions that should be taken if a patient is treated with radioactive iodine, as stated in this article: http://www.webmd.com/women/radioactive-iodine.
(Source: http://www.thyca.org/about/types/, http://www.medicinenet.com/thyroid_cancer/page6.htm#what_is_the_treatment_for_thyroid_cancer)
NEW TESTING FOR ACCURATE DIAGNOSIS: Created by one of the leading providers of diagnostic testing, Quest Diagnostics, the Thyroid Cancer Mutation Panel is said to be the most comprehensive panel clinically available to date. Based on four gene markers by the American Thyroid Association (BRAF V600E, RAS, RET/PTC, and PAX8/PPAR gamma), the test identifies mutations that assist in the clinical management of indeterminate thyroid fine needle aspiration (FNA) biopsies. A biopsy producing inconclusive results to a physician may prompt an unnecessary surgery, if it is later determined that a thyroid is healthy and not cancerous. This new testing is a complimentary tool to help provide accurate results for diagnosis.
FOR MORE INFORMATION ON THIS REPORT, PLEASE CONTACT:
Allison Hydzik
UPMC
412-647-9975
If this story or any other Ivanhoe story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Marjorie Bekaert Thomas at mthomas@ivanhoe.com
Linwah Yip, M.D., Associate Professor of Surgery, Surgical Oncologist and Endocrinologist, discusses a new molecular testing panel that is helping doctors properly diagnose thyroid cancer.
I want to start by asking you a little bit about thyroid cancer, how prevalent is it, has it become more prevalent?
Dr. Yip: So it's actually the fifth most common cancer diagnosed in women and is actually one of the few cancers that are increasing in incidence. Most cancers you hear about are actually decreasing in incidence which is fantastic news but for some reason thyroid cancer is increasing. And we don't really understand why that is; there are some theories that perhaps we're more aggressive at looking for thyroid cancers which is probably true. There's a lot more use of radiographic imaging like CT scans and so we pick up a lot of nodules that way. In addition we are more aggressive with biopsying thyroid nodules. So potentially better detection may be one reason. But people have looked at those numbers and there may be also some other things going on because it seems like it's in all socioeconomic groups. It's among men and women and we're picking up large tumors not just small tumors. So it seems like it's a very broad general trend. Therefore, there may be something else going on too; we just don't know exactly what that is.
And just very quickly again for people who are not familiar with it -- signs and symptoms of this particular cancer.
Dr. Yip: It usually is not very systematic. So for most people it's their PCP or their gynecologist who was feeling their neck and they felt a nodule and that led to an ultrasound which led to the biopsy. By the time people have symptoms where they're having choking, difficulty breathing, difficulty swallowing, and voice changes - usually it's sort of a sign of more aggressive cancer and you missed the ball somewhere. So hopefully people don't come to us with those kinds of symptoms.
What is the standard treatment right now?
Dr. Yip: So if you know that its cancer going into surgery, then the treatment is to take out the entire thyroid gland. We usually get an ultrasound before surgery just to evaluate the lymph nodes in the neck which is the first place that thyroid cancer goes to... And so we usually get and ultrasound to make sure there's nothing there. But after that we go to surgery and then people get radioactive iodine to make sure we got everything and then follow-up after that.
Tell me a little bit about the tests that were developed here at UPMC?
Dr. Yip: For most people with thyroid nodules they get a biopsy. And thyroid cancer is an outright diagnosis in probably about forty to fifty percent of people. Meaning that the pathologist looks at the biopsy slides and they say yes, it's cancer and that's a no-brainer, but for the other people the biopsy comes back and it's what we call indeterminate. Meaning that we don't have enough cells and we can't really tell for sure if it's cancer. Now for those patients most of the time the nodule is going to be benign. The risk of cancer can be anywhere from ten percent all the way up to seventy five to eighty percent; it depends on the pathology results. But we really don't have a diagnosis going into surgery. And so the only way that we know for sure is by doing an operation to make sure there's no cancer there. So that's a problem in that a lot of people are getting diagnostic surgeries and a lot of them don't need surgery actually, and it would also be nice for those people who do have cancer to know it beforehand so that we can do the correct surgery from the beginning. Meaning that we can take out the entire thyroid gland and also make sure the lymph nodes aren't involved before we even hit the operating room.
Tell me a little bit about the test.
Dr. Yip: It is called a molecular panel and we take the cells from the biopsy and we actually put them through a genetic screening testing looking for mutations or gene changes that are often found in thyroid cancer. And the benefit of it is that if it's positive then there's a higher risk of cancer, if it's negative there may still be a risk of cancer but it's a little bit lower than if we didn't do the test at all.
How effective is it, how accurate?
Dr. Yip: It's very accurate. If it's positive the risk of cancer is anywhere from eighty to eighty five percent all the way to a hundred percent depending on the mutation that we're picking up. So it's very good at predicting cancer but it also misses cancer so it's not yet a comprehensive panel -- meaning that there's still a lot of mutations that we don't know about that we aren't testing for. Now that's based on the data that we presented in the paper; obviously research has continued to progress since then and we have some new data and new gene changes that we've added to the panel that have really increased our detection ability. Although that wasn't part of that initial paper, we're hopefully getting better.
What is the next step then, you have this tool that is highly accurate; where would you see it going from there?
Dr. Yip: It's really exciting. So number one, we're getting better at diagnosing thyroid cancers so we are getting better at knowing whether or not people have cancer going into surgery so we can give them the correct surgery. In addition we're better at predicting those patients who don't have cancer and can potentially not need surgery at all. We would then just watch those nodules. And then part two is that each mutation predicts a different type of cancer aggressiveness. So it provides some prognostic information too. Meaning that there are some aggressive cancers that have specific gene alterations and then there may be some low risk cancers that may have a different pattern of genetic changes. What is really favorable about thyroid cancer is that most people do very well. It tends to be a very slow growing cancer if you treat it and take care of it, and the prognosis is really outstanding. The mortality rate is less than five percent. And so I think as we start to understand how gene signatures can separate the low risk from the high risk cancers we can potentially tailor their treatment to fit the aggressiveness of the disease which I think is incredibly exciting.
What is the benefit to someone who's looking at this possible thyroid cancer diagnosis, what is the benefit to having this test performed on them?
Dr. Yip: It may help us better decide what kind of surgery is the ideal first operation, and that's what we looked at in our paper. So if you don't have a test and the biopsy is indeterminate we may say well there's a twenty percent risk of cancer, one in five, why don't we do the half of the thyroid and then if it turns out to be cancer I may have to go in and do a second operation to take out the other half. But if we do the gene test and it's positive then -- there's a high risk of cancer and we can just go ahead and take out the whole thyroid, do the correct operation from the beginning and then you won't need the second operation which would be much easier for patients.
So when you're talking about an extra surgery for patients if you haven't dealt with the cancer diagnosis and haven't dealt with all the stress and everything that goes into that what is the benefit for people sitting home who again aren't familiar what would be the benefit of that. So it's an extra surgery. But really what is the benefit for patients who are in that position knowing that they can just take care?
Dr. Yip: Well I think it's helpful to know going into surgery what is the diagnosis. I think it helps people know what to expect. You know why am I doing this, why am I going through anesthesia and having the discomfort and the recovery. I t's helpful to know that it's cancer and to have a diagnosis and you can mentally prepare yourself for what's going to come afterwards. But it also saves them time off of work, it saves them trips to the hospital, additional testing so I think having it done upfront has a lot of cost and quality of life implications too that may be more difficult to pinpoint and quantify.
If you could just describe again what exactly it is that this test does.
Dr. Yip: When they do the biopsy, as part of the biopsy, we take some of the cells and put it in a tube and store that tube for the genetic test. It doesn't require a second procedure as it's part of the initial biopsy procedure. And then here at UPMC the pathologist will look at the slides and make a diagnosis and if it falls into the indeterminate category we pull the tube out of the freezer and run the test. It's usually an automatic process when they run the molecular testing. And so then the results are reported as part of the biopsy report. .
How many other centers use this now, I know it was developed at UPMC; is this something that you can see eventually potentially become the gold standard?
Dr. Yip: I think it's heading that way. The American Thyroid Association guidelines in 2009, when they were last published, recommended in specific clinical situations like this to consider using molecular testing to help clinicians decide what to do with these indeterminate nodules. The new guidelines are still not out yet but the data in the meantime has been very promising and very positive and so we suspect that it will probably be in favor again of using mutation testing. And those guidelines are what most clinicians refer to for help in managing thyroid nodules.
For clarification is this something, the molecular testing is it FDA approved, does it have to go through certain approval process or is a still considered clinical?
Dr. Yip: It's not FDA approved, I don't think it needs to be FDA approved.
I didn't know with testing how that worked.
Dr. Yip: There are usually specific laboratory requirements where they need to be CLIA certified; for example the testing is available at Quest (Diagnostics) which is a CLIA certified lab. .
So this is something that could be readily available?
Dr. Yip: yes it's accessible to everybody.
Does insurance cover testing like this?
Dr. Yip: It can be variable.
Kris Provence, is he one of your patients?
Dr. Yip: Yes
Did he find this himself?
Dr. Yip: His primary doctor found the nodules. But on an ultrasound it was a fairly sizable nodule. He had a biopsy and the biopsy results were indeterminate, or in the gray category. Typically for somebody young like him, he otherwise didn't have any reasons to have the whole thing taken out and we probably would have just recommended a thyroid lobectomy if I didn't have the molecular testing results. But that did come back positive and so we had talked to him about a high risk of cancer, eighty to eighty five percent for his mutation. He did not want have to worry about doing a second operation and preferred to have a total thyroidectomy. So for him it was helpful as he had a single operation and he recovered quickly. It turned out to be cancer. And so I think it really worked out for him and he can probably give you more insight. It was nice to know going into surgery what was going on and then to have it taken care of I think was better for him.
Just for me, what would be the benefit of leaving half the thyroid if you weren't sure as opposed to taking the whole thing out?
Dr. Yip: The benefit is that you can potentially stay off thyroid medication. So if we take out the whole thing you definitely have to be on Synthroid or levothyroxine; if we do that half there's about a seven to eighty percent chance that you would be fine with just half remaining. That's the benefit or just having half the thyroid removed and important to know.
Is there than a risk of side effects from the thyroid medication?
Dr. Yip: For most people it's okay but the medication requires adjustments. There are some people where it doesn't agree with them and they don't feel quite as well as they did when their thyroid was in place. In addition if you take out the whole thing there's a high risk of operative complications and so we don't like to do it unless we really need to.
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