Endometerial cancer with essential throbocythemia (ET) Jak 2 mutation

you must be an advanced researcher who has published your work

Please share your research paper on the Jak2 mutation

@1995victoria

You can believe me or not. I am a PhD molecular biologist and geneticist who used to work in the molecular lab of a hospital, where we did things like sequencing tumors for mutations and blood samples for JAK2 V617F. I am very experienced in reading research papers like this. I have run a research lab as well.

Obviously I'm also an anonymous person on the internet who could be misrepresenting things. But I don't know why anyone would bother with making up stories about JAK2.

Your doctor will tell you the same thing if s/he is willing to discuss it at all. This kind of misconception is the reason doctors don't like patients consulting Dr. Google.

@1995victoria

The Cancer Genome Atlas program (TCGA) was a multi center project to sequence the DNA of hundreds of samples of virtually every cancer type. (They do not seem to have done MPNs). They did sequence many endometrial cancers and determined which genes were mutated at statistically significant frequencies. There's a nice graphical summary at tumorportal.org. Click on UCEC in the blue section at the top. The next page shows the most commonly mutated genes on the left and has individual patient samples across the top. It lists genes that show statistical significance at the bottom. JAK2 is not among them.

I went and read the beginning of that Chinese lab's paper, and it's pretty terrible. They note that JAK2 is mutated in cancers that also have a mutation in POLE. That's not a big surprise. What POLE mutations do is that they cause the cell to make mistakes while copying its DNA. So POLE mutant cancers have mutations absolutely all over the place, in JAK2 and in many other genes. You can see that on the tumorportal graphic. POLE is the 24th gene on the left, and if you follow that row across, you can see that many specimens with POLE mutations also have many other mutations up and down the graphic. These are considered "passenger mutations", meaning that they're there because the cancer is sloppy at copying its DNA, but that the mutations probably don't contribute to the behavior of the cancer.

If you're interested in looking at more, and more recent, datasets of mutation profiles of cancer samples, they can be found at cbioportal.org.

@1995victoria @val64 has been a member of Connect for 3 years. She is an active member of our Gynecological Cancers Support group. Her scientific knowledge is so very helpful in our support group. I often tag her when a scientific question comes up that involves genetics and lab sciences.

Any one of us can ask Dr. Google something and get an answer. My ongoing concern is whether the answer produced by Google or AI is reliable, valid, and accurate. When I want to find peer-reviewed research articles I use my university library's resources. But...that doesn't mean that I can actually comprehend the methods and results in a research paper in which I don't have the background. Fortunately, I have a resource under the same roof. My husband is a pathologist, now retired, and specialized in anatomic pathology and clinical chemistry.

@val64 Thank you for all you contribute to our Support Group and for explaining your background. How are you doing?

@naturegirl5

I'm not doing well. I have been on four different treatments this year, none of which have worked. I'm pretty sure one did significant harm and made the cancer grow faster. I'm about to switch again in a couple weeks, but I've reached the dregs of the standard of care options. There's a clinical trial I would like to try, but there won't be any slots open until they get something through the FDA, which is, of course, closed.

So sorry for your problems. I wish you all the best. Sorry I didn't see, do you have ET Jak2 and endometrial cancer?

@val64 With all that you have going on with your own health I'm heartened to see you back here so regularly. You are a strong support with your knowledge and information. I wish you the same support that you so kindly offer others. The FDA. Closed at present in the U.S. affects the progress of clinical trials.

I hope that you are able to nurture yourself and that your friends and family are present for you. @val64, I feel my words are not enough to let you know how I wish for you to have every avenue open for your treatment and care.

@1995victoria

I have endometrial cancer, not ET. I hope they get rid of your endometrial cancer and that it stays gone permanently.

@naturegirl5

Thank you for your good wishes. My family and friends and I are dealing with this well enough. I come here because I find it sort of comforting, and it gives me something to do.