What to look for if ET is progressing to something else.

Hi,
I was diagnosed with ET January 2025 after routine physical from high platelets in lab work. I made the mistake of asking for a bone marrow biopsy which was done in February. I have CALR1 mutation after being checked for JAK2 and rheumatoid factor which are negative. Then my O/H changed my diagnosis to primary myelofibrosis in February 2025. I still have high platelets which fluctuate a lot on their own on my labwork. I take only low dose daily aspirin. I feel fine with no symptoms and lots of energy as I always have had. I have not got a big spleen, have normal red cells and hemoglobin on labs, but high platelets and white cells 12.9 which is above normal 11.
So, just do not ask for a bone marrow biopsy and keep feeling fine would be my advice. I have little faith in my O/H to be honest.

Hi @1pearl, I know in retrospect you’re feeling that you shouldn’t have gotten the bone marrow biopsy (bmbx) because your condition hasn’t changed. But from having leukemia myself, I think having this test, for you, will be a valuable baseline from which to watch for any potential progress of your condition and should actually bring a sense of relief that you’re not having serious issues right now.

I’d wished I had one much earlier, maybe it would have given me an opportunity to reduce my progression to AML. This test for you, also gave your oncologist a better picture of what’s going on inside your bone marrow. That’s why she was able to change your initial diagnosis from ET, with your excessive platelet count, to MF (myelofibrosis) which is still part of the same underlying condition of myeloproliferative neoplasms. It’s not that she made a mistake earlier, but the biopsy gave her much more valuable information on which to base the diagnosis.
MPNs, with the involvement of specific mutations, can cause proliferation of blood cells such as red cells (PV) or platelets (ET). The damage from the overproduction, over time can result in scarring of the marrow. This changes the soft spongy marrow tissue and it becomes very fibrous, which is called MF or myelofibrosis.

You’re fortunate to not have obvious symptoms but it doesn’t change the fact that your bmbx showed evidence of MF along with elevated platelets and white blood counts. Over time, MF can cause unusually high levels of white blood cells. But many of the cells are defective and don't work the way they should, which can weaken the immune system. So your doctor will want to monitor your labs to make sure nothing changes.

I’m sorry you don’t have much faith in your oncologist. I really hope you’re able to make changes in your insurance in the future so that you’re free to seek another provider. But we really have to be careful when telling others not to ask for a testing such as a bone marrow biopsy when they can be extremely valuable tools for our doctors.

Hi @bshattuck138 It sounds like Becky has found the sweet spot of balance with the HU she’s taking for her diagnosis of ET. Having no side effects and seeing her platelet level get back under control is a win/win. She may be fortunate and not have an escalation of symptoms. From my understanding, many people don’t.
I’d love to be glib and say, “Don’t go looking for trouble” but I won’t…LOL. Your wife’s doctor will keep an eye on her labs. They’ll look for trends in numbers. Since ET is a generally slowly progressing disease, the labs will indicate whether there are any changes happening. One or two blood tests don’t give a complete picture as our numbers can fluctuate quite a bit daily. But an upward or downward pattern in tests reveals a more accurate picture. Certainly if there are any new changes such as nose bleeds, headaches, dizziness, etc., then she should check in with her doctor.

If you enjoy a little reading, here’s a link to Medical News Today, which has a pretty good article on ET and following it is another on MPNs - myeloproliferative neoplasms, which is the group of diseases where ET is a member.
https://www.medicalnewstoday.com/articles/essential-thrombocythemia#contacting-a-doctor
How often does Becky have labs?

Hi Lori. Thanks for the reply. I've been absent from this forum for awhile...not intentionally, just busy I guess. Yes, Becky is doing quite well. Thanks for your insight, it's always been helpful. At this point Becky is getting labs every three months.
I'll check out the readings.
Many thanks for answering.
Steve

Hi Steve, Labs every 3 months is a nice long leash. From my experience, when I had extended breaks from bi-weekly or monthly labs, it was always a good sign my doctor felt things were on an even keel. ☺️

Hi Lori,

Thank you for your informative reply. Please explain what you meant and how it could have been done by writing you wished you had a bone marrow biopsy earlier than you did as maybe you would have had an opportunity to to reduce your progression to AML How does one reduce there progression to that and any MPN? I need to learn how.

Thanks and hope your day is going well.

Hi @1pearl, There are a number of different blood conditions and cancers with subsets to each. In your case you were diagnosied with ET/MF which are types of MPNs (myeloproliferative neoplasms).
I had AML,which is an acute form of a myeloid leukemia. MDS, (myelodisplastic syndrome) is a type of blood cancer. Some forms of MDS can mutate and progress quickly to AML. Knowing what I know now, I suspect I may have had MDS which accelerated to AML. But by the time I was diagnosed, my blast cell count (cancer cells) composed 85% of my blood, requiring months of aggressive chemo to get me to remission so that I could have a bone marrow transplant. Had my complacent PCP followed up with original bloodwork the year before (I was not aware) or referred me out to a H/O, I might have known about the MDS and had a pre-emptive transplant. I would have insisted on more testing and a bone arrow biopsy. But that’s water over the dam now. 😉

For MPNs, several options for treatments are listed in informational articles. Some may help slow the progression, depending on the type and risk factors. Here are a couple of articles from reliable sources. Not sure if I’d posted them for you before or not. But interesting reading.
~Mayo Clinic: https://www.mayoclinic.org/diseases-conditions/myelofibrosis/symptoms-causes/syc-20355057

~Health line:
https://www.healthline.com/health/cancer/myeloproliferative-disorders
You may not need any intervention for a long time, if any. I know you’re super active, you eat healthy and exercise. Plus you have a wonderfully positive attitude. All of these make such a huge impact on our lives. So keep up with regular labs but don’t let any of this interfer with your joy of life!

Hi,
Thank you for your very good information but I had already read it and it just did not help me clarify answers to my questions. I do not yet understand how the different conditions morph into others or multiple conditions. I thought I read that you had PV that changed to AML somewhere and so not understand where MDS fits into the picture of transformations. I suspect that when we are checked for many different mutations on MGS type tests, it might help to explain why people get multiple conditions and tendency for one MPN to change into another but I do not really know that. Perhaps mutations develop earlier in life and slowly become a problem? I just do not understand the whole picture or how the pieces all fit together. I am still trying to learn.

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I don't think experts understand or can entirely explain MPN disease progression. Nobody can predict who will progress, how fast, or to which diseases. MPNs were largely ignored until the early 2000s when they were reclassified as cancers. Some experts can't even agree on the reclassification.

As we all know, the mutations cause the bone marrow "factory" that produces healthy blood cells in the right numbers to go haywire. ET typically starts off with just the platelets being high and gradually going up. If you live long enough, more types of blood cells start going wonky. But most patients would have to live well beyond a normal life span for things to get that bad. A few will be unlucky and experience progression.

As I understand it, the only cure is bone marrow transplant, which is often deemed more risky than the disease. Drugs in the interferon family (besremi and ruxolitinib) MAY reverse disease progression and lead to remission, but too early to say. All the other treatments just manage cells for a time, sometimes decades. They may stop working for some people. Again, nobody knows why.

The really hard thing to deal with, as people here post about so often, are the myriad side effects of both disease and drugs. The list goes on and on from migraines to hair loss to blood clots to mouth sores to diarrhea to constipation to leg aches to foot pain to gout to weight gain to fatigue. A few folks have no symptoms, look great, and are running marathons, so it's easy to for the rest of us to wonder if this is all in our heads or if we're just great big babies.

I would say that the psychological effects of an MPN, especially living with the unpredictability for the rest of your life, is its biggest challenge.

Well said nohrt4me! I totally agree that the most difficult part is the psychological part of wondering about and worrying about the effects of our MPNs. The exact science of them seems to pretty much still a mystery in my opinion.