Was your endometrial cancer tested for mutations in the gene POLE?

Posted by val64 @val64, Sep 3, 2022

I recently received the pathology results (Stage 1B Grade 3 endometriod carcinoma) on the specimens from my TH-BSO. I had thought that endometrial cancers like this would be routinely tested for mutations in a gene called POLE, which confers a better prognosis, but my sample was not. Apparently this is not part of the algorithm at the university hospital where I am being treated. They say they're working on offering this test, but that doesn't help me.

I have tried to ask my care team what my options are for getting this test done, but so far the only thing they mentioned is an extravagant sequencing test that isn't covered by insurance and seems to cost ~$6000. This is overkill, and way more than I would be willing to pay out of pocket.

Has anyone had POLE mutation testing done on their tumor specimen? If so, where where was this testing was performed? Did insurance cover it? How much did it cost?

Interested in more discussions like this? Go to the Gynecologic Cancers Support Group.

finn07 | @finn07 | Oct 26, 2023

Hello everyone, so extremely appreciative to be here with you all and Thank You 🙂
Diagnosis of Endometrial Cancer-Stage 1-Type 1A. 10/25/2019...had Surgery 12/30/2019- Complete & Total Hysterectomy...Everything's gone including having to take all lymph nodes out etc.... Per my Pre-Surgery papers I signed; because of what the PET Scan had shown, He may have had to do a Bowel Reduction on me during the Hysterectomy surgery. Moving forward I keep having bouts with unexplained uncontrollable Diareah over the past three years and this Drs staff insists I DO NOT require a 2nd PET Scan because there is Nothing to scan, it was all removed by the Dr. I've been asking when do I get my follow up PET scan since my Post surgery follow up visit 1 month after my surgery, just like what's our plan going forward the next 5 yrs.? He said Nothing, I said do I need chemo, or one pill for radiation, or outside radiation for my lower stomach to kill any hidden or run- away cells? and how far along will I get a follow up PET Scan? His Reply ... (very sternly)"THERE IS NO CANCER, I GOT IT ALL, I DONT KNOW WHY YOU ARE ASKING THIS, & NO REPEAT PET SCAN EVER, YOU'RE CANCER IS GONE BY ME w/ SURGERY. SO, NO RADIATION- OR CHEMO- OR ANYTHING IS NEEDED W/ STAGE 1-1A. I replied... So, you didn't miss even ONE single cell? He Replied "NOT EVEN ONE CELL" and shook my hand and left. That will be 4 yrs ago this DEC.
Has anyone had a similar situation? I don't feel like this is a normal practice. Personally, I want a clear PET Scan. This is my life. How can my Dr. be so adamant and 100% sure of himself after my Surgery to tell my family and I No... more treatment other than surgery and there's nothing up there to see anymore to get cancer to need a PET Scan

jjevitts | @jjevitts | Oct 2, 2023

In reply to @val64 "POLE mutations are present in about 10 percent of endometrial cancers and and are associated with..." + (show)

Thank you so much!! Very appreciated!

jjevitts | @jjevitts | Oct 2, 2023

In reply to @val64 "I just looked at some of your previous posts and saw that you had your hysterectomy..." + (show)

No they did it at the time of surgery. My Dr. moved shortly after the surgery. She explained it, but I just didn’t quite understand.

val64 | @val64 | Oct 2, 2023

In reply to @jjevitts "Thank you so much!! I really appreciate this. The things I read were very confusing!" + (show)

I just looked at some of your previous posts and saw that you had your hysterectomy over a year ago. Did they just do the POLE test now?

jjevitts | @jjevitts | Oct 2, 2023

In reply to @val64 "POLE mutations are present in about 10 percent of endometrial cancers and and are associated with..." + (show)

Thank you so much!! I really appreciate this. The things I read were very confusing!

val64 | @val64 | Oct 1, 2023

In reply to @jjevitts "Hi, I was just wondering if anyone could explain the POLE testing and the effect in..." + (show)

POLE mutations are present in about 10 percent of endometrial cancers and and are associated with a good prognosis and a very low risk of recurrence. If the test had been positive, that would have been something to celebrate, but a negative result doesn't really change the outlook on your situation either positively or negatively. Let me know if that doesn't answer your question.

Helen, Volunteer Mentor | @naturegirl5 | Oct 1, 2023

In reply to @jjevitts "Hi, I was just wondering if anyone could explain the POLE testing and the effect in..." + (show)

@jjevitts Hello, @val64 started a discussion on POLE testing. Some of your questions might be answered by reading this Discussion and responses.
https://connect.mayoclinic.org/discussion/testing-endometrial-cancer-for-mutations-in-the-gene-pole/
I’ve tagged @val64 as she is very knowledgeable about this and I’m hoping she will jump in here and provide you additional information.

jjevitts | @jjevitts | Oct 1, 2023

Hi,
I was just wondering if anyone could explain the POLE testing and the effect in endometrial cancer? I was tested and found to be POLE negative, which is my understanding not the outcome you want. Does it effect the prognosis? Or recurrence?
I’d so appreciate any insight. I’ve read quite a bit, but it’s so technical. Thanks so much!

annewoodmayo | @annewoodmayo | Dec 14, 2022

In reply to @val64 "I did manage to get a POLE mutation test on my tumor by having it sent..." + (show)

@val64

I did manage to get a POLE mutation test on my tumor by having it sent to Stanford ($450 as of Sept. 2022; I didn't mess with trying to get insurance to pay for it). This is the only place in the country that I could find that is advertising a single gene test for POLE and is interested in taking outside specimens.

However, most academic medical centers sequence POLE as part of a "next-generation sequencing panel", where they sequence dozens to a few hundred different genes in a single test. I would have rather had a sequencing panel done, but it took a long, educational investigation to figure out how much this would cost if insurance wouldn't pay for it (which they almost certainly wouldn't at my stage. Insurance is more likely to pay for a sequencing panel for advanced or recurrent cancers such as @mimito6's. I know this kind of thing because I'm a molecular biologist who used to work in a lab that did these panel tests.).

The hospital where I'm being treated has a "price transparency" spreadsheet that lists the cash price for such a panel at well above $10,000. I contacted the lab (which you're not supposed to do as a patient, but I was super-frustrated), and eventually they got back to me and said that I could self-pay for the panel for less than $1000 if the correct procedure was followed. So much for price transparency.

Anyway, my POLE test was negative, which is not the good outcome, so now I have to decide what to do.

I'm interested in what people think. My tumor is a Stage 1B, FIGO grade 3 endometrioid endometrial cancer. My current Dr. has recommended 3-6 cycles of chemo plus vaginal brachytherapy. I'm scheduled to start chemo next week. My insurance won't cover a second opinion at any of the very highly rated non-local hospitals, so I got a second opinion at the second large local hospital system, and they recommended pelvic radiation therapy; no chemo. I have an appointment for a 3rd opinion at a cancer center belonging to a third local hospital system next week, less than 24 hours before I'm scheduled to start chemo. I'm planning to decide for certain what to do after that, but am currently thinking that I will go ahead and start chemo.

What do you think has fewer long-term side effects? Chemo or pelvic radiation? I'll put up with the short term side effects, but would rather not be dealing with peripheral neuropathy, lymphedema, urinary, bowel problems, etc. for the rest of my life.

Jump to this post

Golly, I'm so new at this stuff that I have nothing to advise. Just want to wish you good luck!

val64 | @val64 | Dec 7, 2022

In reply to @cls316 "Hi, I've just gotten a 2nd opinion surgical path report consult. I don't understand some of..." + (show)

MMR stands for mismatch repair, which is cellular system for repairing a type of DNA damage that occurs normally in cells as they divide. All cells in our bodies carry out MMR. "MMR proficient" means that the mismatch repair system in your tumor is normal. Since this is the normal state, there are no clinical implications for the tumor being MMR proficient. (There would be clinical implications if the tumor were "MMR deficient," ie having defective mismatch repair. About 25% of endometrial cancers are MMR deficient, and testing for MMR is standard of care for endometrial cancers. )

The BRAF test is strange, and it makes me wonder if there's been some sort of miscommunication. I'm almost reluctant to comment on it, and you should definitely ask the doctor about it.

BRAF is a gene that is frequently mutated in certain types of cancers. As of 2 years ago, when I quit my hospital job, it was routine to test for BRAF mutations in certain thyroid nodules, in colorectal and lung cancers, and in melanomas. I see no reason to test an endometrial cancer for it, unless they just routinely do the test on every sample they get, which I guess is possible. BRAF mutations are extremely rare in endometrial cancers; the NCCN guidelines don't recommend or even mention testing for it; and BRAF testing is definitely NOT standard of care.

What would be standard of care would be to test for a different gene called p53. Does the report mention that?

The phrase "BRAF positive" would normally mean that your tumor has a mutation in the BRAF gene. But I am reluctant to draw that conclusion in your case, since that seems extremely unlikely. More likely some kind of miscommunication. I certainly wouldn't spend any time worrying about it either way, but I would ask.

I hope that answers your questions. (I know this is obvious, but let me add the disclaimer that I am a random stranger on the internet, and everything said by such people, no matter how sincere, should be taken with a grain of salt.)

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