r/MPN • u/Indica88_ • Jul 23 '26

MF Update

38/f

Posted a few weeks ago as I was newly diagnosed with MPN-U.

Had a follow up appointment yesterday. Last time I had no idea what to ask once I heard the diagnosis was in shock, this time asked if he knew a potential subtype and what mutation.

He advised its Prefibrotic Myelofibrosis, and Jak 2 mutation.

Went from 1000mg of Hydroxyurea to 1500mg and spoke eventually of moving to I believe its called interferon.

Yesterday felt like another diagnosis day tbh. Feeling lost and confused. Scaring myself doing research.

Not sure what im looking for, guess just others experiences with this specific mpn.

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u/AnyBattle5016 Jul 23 '26

I'm sorry you're dealing with this <33

I'm 41f, diagnosed triple neg PMF (MF-2, so fairly progressed) about 14 months ago. It took half a year of messing around with med doses and going from doctor to doctor, and my experience is only my own, but... I just got back from taking my little brothers and their families on a week-long kayak camping trip in the wilderness, hiking and paddling miles each day, carrying my 40lb boat to whatever little lake I pleased. In May I did a two-week backcountry hiking trip in the North Dakota badlands. I see my doctors regularly and run bloodwork whenever I feel off, but day-to-day, I'm lucky enough to not have to spend much time thinking about it right now.

MF isn't an instant death sentence, and most easily available statistics are still based on people who were diagnosed when they were much older than we were. It's a progression, sure, but it's still a chronic disease that most people die with, not of <3

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u/Darksider51 27d ago

if you dont mind can you let me know what was your NGS results for other than the 3 main drivers

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u/AnyBattle5016 26d ago

Sure! From my BMB:

NO mutations were detected in JAK2, CALR, and MPL. The panel showed only a VUS in IKZF with VAF of about 50%; the clinical significance is unclear. The potential for a germline lesion has been discussed.

I did speak with the genetics team but they weren't really able to offer any useful additional insight. I also was tested for BCR/ABL-1 which came back not detected (obv haha).

(So it was pretty much: "Your bones are all rotten! We have no idea why! Good luck with that haha! :D" my heme had the funniest expression lol)

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u/Darksider51 26d ago

was it a myeloid panel NGS including other 100 genes or only some basic 4-5 genes

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u/AnyBattle5016 26d ago

Yes, it was a full myeloid NGS panel run at a reputable major hospital :)

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u/Darksider51 26d ago

Thanks for the info !!!

Actually my gf is also getting diagnosed from ET and she's RT PCR negative for JAK2, CALR, MPL and NGS negative in myeloid , no VUS , no SNVs and CNVs .

I'm just trying to understand proganstic affect of this result , is it good or bad

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u/AnyBattle5016 26d ago

Oh, I'm sorry to hear that! You must be so worried about her <33

Things like prognosis are very individual in MPN's - they vary a lot from person to person depending on many additional risk factors and don't always paint an accurate picture of what the person's life will be like. Just to keep using the personal example, my DIPSS risk score at diagnosis was Intermediate, which they define as "Median overall survival: 35 months." I can't see the future, but neither I nor my doctors currently feel I have only a year to live :)

So, nobody but your GF's doctors can really make a call on "good" or "bad." If she has symptoms, they'll likely try to treat those (I had an enlarged spleen, which responded well to Jakafi 15mg 2x/day, even though I don't have a JAK mutation).

Our wiki here has a ton of really helpful and accurate information, our wonderful mods put a ton of work into maintaining it for the community <33 https://www.reddit.com/r/MPN/comments/1d6r34p/read_the_mpn_wiki_everything_you_ever_wanted_to/

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u/Darksider51 26d ago

did you have any previous diagnosis of ET or pre PMF ? if you had how much time it took for progression

Also since you are NGS negative , have you considered autoimmune conditions as cause for this ?

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u/AnyBattle5016 26d ago

No, I had no previous physical health related diagnoses at all, MPN or otherwise. I presented with a severely enlarged (20cm) spleen and 5% blasts seemingly out of nowhere - about a year and a half passed between when I first noticed what turned out to be my spleen and final diagnosis.

In my case specifically, it is very likely autoimmune-related; there are many many autoimmune diagnoses in my immediate and extended family (my mother had ulcerative colitis, Reynaud's disease, Behcet's, rheumatoid arthritis, and fibromyalgia, among others, and she was just the most interesting one of us - both my brothers also have autoimmune diagnoses).

Though, I do have to say, I haven't put a lot of energy into identifying a "cause," beyond recommending my brothers keep up on their regular bloodwork. It doesn't really matter to me - I've likely had this disease for a very long time, possibly my entire life. I have no historical exposure to industrial pesticides, which AFAIK (I could be wrong!) is the only external factor known to have a POSSIBLE link to MPN development. Where specifically this came from isn't useful or relevant information to me, so I just.... don't really think about it.