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Was your endometrial cancer tested for mutations in the gene POLE?
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?
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Many thanks for responding so quickly and for the info. Was this at Mayo?
I'm interested in it for the prognostic value. (I do not have colorectal cancer in my family.) I will feel quite differently about further treatment depending on the result.
I also think it is a reasonable thing to want because the most recent version of the NCCN Guidelines for endometrial carcinoma recommends molecular classification based on 3 tests: POLE sequencing, immunohistochemistry (IHC) for mismatch repair (MMR) proteins, and IHC for p53 (ENDO-A p. 3 of 4). This is based on a number of publications over the last few years that categorize endometrial carcinomas into 4 groups: 1) POLE mutants (from sequencing), 2) mismatch repair defective (from MMR IHC), 3) copy number high (from p53 IHC), and 4) copy number low (everything else). POLE mutants have a very good prognosis, while copy number high have the worst prognosis, and includes some high grade endometriod carcinomas as well as serous carcinomas.
Many POLE mutant cancers are like mine, presenting with high grade and greater depth of myometrial invasion. But some copy number high cancers are also like mine. I will feel quite differently about how aggressively my cancer should be treated if it's POLE mutant vs. copy number high. (IHC for MMR and p53 have been done on my specimen.) Once I'm given a treatment plan from my current team (hopefully soon), I'll have to decide whether to go looking for a second opinion, and whether I'll have to make access to a POLE test a criteria for where.
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2 Reactions@val54. I didn't know about POLE mutation testing so I looked it up.
https://www.mskcc.org/cancer-care/patient-education/about-mutations-pole-gene.
https://www.mayoclinic.org/medical-professionals/digestive-diseases/news/inherited-cancers-clinic-seeks-to-advance-understanding-diagnosis-and-management-of-hereditary-colorectal-cancers/mac-20430193
I do know that there was gene testing on my tumor specimen in 2019 but POLE mutation testing was not one of them. Insurance (BC/BS) covered all of my gene testing at that time.
I'm curious why you'd like to have POLE mutation testing? Is it for the prognostic value as you mentioned or do you have a history of colon or rectal cancer in your family? Is there a clinical reason that your oncologist can make the case for with your insurance company? So-called "screening" without specific clinical or diagnostic reasoning often results in no coverage from insurance. (For what it's worth, I don't like this. I had to fight with my insurance company when I had my first screening colonoscopy as recommended by the AMA at the time).
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