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Was your endometrial cancer tested for mutations in the gene POLE?
Gynecologic Cancers | Last Active: Apr 1 1:02pm | Replies (28)Comment receiving replies
@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-20430193I 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).
Replies to "@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..."
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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.