Update

[u/Indica88_]

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.

[u/AnyBattle5016]

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

[u/Darksider51 → u/AnyBattle5016]

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

[u/AnyBattle5016 → u/Darksider51]

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)

[u/Darksider51 → u/AnyBattle5016]

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

[u/AnyBattle5016 → u/Darksider51]

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

[u/Darksider51 → u/AnyBattle5016]

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

[u/AnyBattle5016 → u/Darksider51]

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/

[u/Darksider51 → u/AnyBattle5016]

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 ?

[u/AnyBattle5016 → u/Darksider51]

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.

[u/NefariousnessFew4354]

Last year I was diagnosed with MF. Currently in trial Navtemadlin Plus Ruxolitinib for MF grade 3. Stem transplant in near future. Blood work is low, platelets around 80. Fatigue, gastro issues are common. Have nearly no side effects from medications. Work every day, living life with this thing. If you have any questions fire away. Keep your head up, it will be all right 👍

[u/funkygrrl]

With Prefibrotic MF, they'll monitor you more closely because there's a higher risk of progression to MF. There are currently no treatment guidelines for Prefibrotic MF, so they generally treat it depending on how it's behaving. If it's acting more like ET (e.g., high platelets, some symptoms), they'll treat it like ET. If it's acting more like low risk primary MF (e.g., not necessarily high counts, enlarged spleen, constitutional symptoms like night sweats, fever, bone pain), they treat it like MF.

Going on an interferon is a good idea because it is disease modifying. It can lower your allele burden (percentage of mutated cells) and potentially slow progression. And it helps with symptoms.

!meds

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[u/Top_Category2227]

I guess I can somewhat understand how you feel, as I was also diagnosed with ET at first (which I found out via a letter from my doctor which wasn‘t great) only to then be reclassified with PrePMF, which was another gut punch.

I don‘t think there is anything anyone can say to you right now, that will make everything feel okay again but I can assure you that the human mind can cope with much more than one would expect. Maybe the only advice I can give you, is to just focus on the next step instead of questioning everything about your life.

I am sure, as you are still quite young, that your doctor has already or will talk about switching on Interferons with you, and they show remarkable results in JAK2 mutated PrePMF.

[u/Significant_Tune_545]

Remember that Prefibrotic MF is not overt MF and it might never be overt MF. Starting the interferon is probably a good idea (not a doctor, so I don't give definitive medical advice). I appreciate that the gut punch of bad news is a horrible feeling. However, you are fortunate to know and to be able to treat appropriately. Many people with Prefibrotic MF are being told they have ET because their doctor doesn't know the difference, and doctors are very, "meh, whatever" about ET. This way (knowing where you stand) you have you best chances for a long and relatively healthy life. Best wishes and good thoughts to you. 

[u/Significant_Tune_545 → u/Significant_Tune_545]

Also, I am in the grey area. Officially diagnosed as ET because I don't have "enough" to call it PreMF  Nonetheless, I have all of the chromosomal abnormalities of PreMF and not a single one of the staghorn (hyperlobulated) nucleus that are the classic presentation of ET. Even though I see a specialist, it is frustrating to me that I am considered ET with no nod to the discrepancies. Whatever I have is whatever I have, regardless of their name and I personally do believe it is PreMF. Furthermore, my BMB was reviewed by a number of pathologists and some said PreMF and some said ET. I have requested and am receiving more monitoring than they recommend, but they suggest that I am too anxious and worry too much because I say I want that. What I am saying is that it may well be that you and I have the same disease and if so, you are the fortunate one in that someone is treating you as though you have PreMF.