ET & mild MF (negative for all gene mutations)

[Cmg5935]

Hi All, I was wondering if anyone else on our forum is not only triple negative, but has been tested negative for all known gene mutations.

If you have been I was interested in learning what information you may have gleaned from your hematologist or research. I am concerned because many of our available treatments to slow mpn progression are gene targeted. My understanding is that This leaves limited options and increases risk of developing leukemia to 50/50 odds.

I’m truly hoping you may have more optimistic information, though any information would be appreciated as I’m trying to get a realistic picture of our situation.

Thanks

-Christina

[Mrs_Average]

Hello Christina.

I have MF but also have CALR mutation. A similar question to your was raised at the Living with MPN day last week. The response was that it may be that the specific gene mutation has not yet been identified. Some drugs target the processes which drive the proliferation.

If you are concerned do ask your dermatologist as I am sure they can help provide more technical information and hopefully reassurance.

Also check out MPN voice if you can, lots of useful information there.

Good luck.

Katherine

[Cmg5935 in reply to Mrs_Average]

I appreciate your response Katherine. I did see a specialist but all she could tell me was that I would be watched and monitored, and to simply live my life. Her philosophy seemed to be a we’ll just wait and see. I get that is the reality, but I feel sure that there must be ways without medication to improve my odds. Also, I personally find knowing my potential outcomes and options available to be more stress relief then inducing. Something I could not convince the specialist of.

Thanks again and I will continue to peruse the website for information as you suggested

Christina

[Rachelthepotter]

Dear Christina. I have mf diagnosed about a year ago. I would rather have information than not have it. Which seems to me to also be your approach. . This is a link to a recent paper that looks at mf in people who don’t have any of the currently known mutations

One of the interesting comments was that ruxolitinib seems to be helpful even if people don’t have the JAK2 mutation

So it might be worth aiming to get a second opinion from a haem who is up to date with the research on MF. That does seem to be a life enhancing strategy in general for people with MPNs.

Lots of love

Rachel

hematologyandoncology.net/a...

[Cmg5935 in reply to Rachelthepotter]

Rachel, Thank you very much! I read the study and have found it very helpful. If you should come across anything else I’d love to know.

Very grateful

Christina

[Rachelthepotter]

I’m glad you found it helpful A member of the forum with the user name shiftzz posted links to some excellent videos on You Tube producrd by the Khan Academy that explain the defects that give rise to mpns.

This is one of the links

youtu.be/WL3CZvIcUFY(Not working as expected?)

Apologies if I’ve sent the wrong one.

I’m not that tech savvy ( email1 and basic word processing were the extent of my IT skills ) and I’d planned to spend my time in retirement learning to throw good pots, but the MF diagnosis and wanting to know more about it makes me need to up my IT skills

Maybe I might look out for an easy course on social media (Maz explained the basics to me - not sure I ever thanked you properly, Maz : belated thanks if not) and ways of organising information that I come accross on line.

Unfortunately the MF plus the medication plus the fatigue makes it hard to think clearly at times.

Do keep in touch.

And if you want a better haematologist local to you ask on this forum if you live in the UK.

Lots of love

Rachel

[stillkicking]

Hi Christina,

I've been following your posts with interest in that I am definitely negative to JAK2 and CALR, but no more tests will be done because they are deemed too expensive in my country (NZ) ... so I'm left not knowing! I'm currently on daily aspirin, but will almost certainly have to face starting HU in the next few months. I would prefer to try something else first, but ...

If I can hang on for a year or two more without starting HU I will certainly try, because there is always the chance that something more might be found out about my condition, or maybe some other drug become available... I hope so!

I do agree that it is good to know as much as you can, and that knowledge can reduce anxiety, rather than add to it. I tend to have sleepless nights when things don't make sense!

Kind Thoughts to you.

Peter

[MoNut]

I am concerned about the length of time I have been on Hydroxycarbamide (11 years now). I was told originally that in rare cases it “could” cause leukaemia. A bit worrying.

[Kelly2 in reply to MoNut]

Hi have you told your doctor about your worries?

[ChelseaF]

I have no official diagnosis but I think I am in this category. My platelets have been high since at least 2006. The bone marrow biopsy couldn’t confirm or exclude MPN. It showed a mild increase in reticulin fibrosis.

I saw a specialist (Dr. Prchal) who tested me for a panel of mutations and all were negative. He says I either have ET or I was born with high platelets. Unfortunately we can’t find old CBCs to determine this but given the pattern of slowly rising numbers I don’t believe I was born with it.

I have a high symptom burden but am considered low risk so I’m currently on aspirin only. It’s very frustrating having no answers. I feel like I could cope with whatever news, but I want to know. Watch and wait doesn’t satisfy my personality!

[cmc_ufl in reply to ChelseaF]

Hello. Just wondering how you are doing at this point. I also tested negative for all 3 driver mutations and have had mildly elevated platelets since 2011. Specialist says I likely don't have ET, but that he can't exclude it, and is not recommending further testing.

[Mazcd Partner MPNVoice]

Hi Christina a similar question was asked at our recent Living with MPNs Day, it was:

Would it be possible for the panel to bring everyone up to date on the latest research findings regarding 'Triple Negative' (ET). Is it correct that 'Triple Negative' patients have a greater risk (up to 30% more) of developing MF than people with JAK2, CALR or MPL and would the length of time since initial diagnoses of the ET condition have any bearing on this possible outcome?

the reply from one of the panel was:

TRIPLE NEGATIVE ET APPEARS TO BE THE MOST BENIGN OF ALL THE MPN THERE ARE MANY INTERNATIONAL GROUPS EVALUATING THIS.

I hope this helps. Best wishes, Maz

[Craftyviolet]

Hi

I have ET and tested negative on all gene tests. After 3 bmb's now am MF1.

I am 62 on aspirin and hu and my platelets have come down to 437 which is lowest ever!

[cwayman11]

Hi Christina

I am negative for everything and my diagnosis was changed from polycythaemia to ET and the prior PV was categorised as reactionary PV. I've been told also that it's a case of monitoring and retesting as new research finds new genetic marker. I don't have MF so unfortunately can't help there but see you have had some replies. I too find it stressful and a bit frustrating being in a rare category of a rare group and not really knowing what's next but trying just to crack on with life while managing the fatigue.

Hang in there.

Claire x

[Aneliv9]

What do you mean by ET with "mild MF"?

Also a late study suggests that imetelstat, saw significant survival advantage, especially in those with triple negative MF

[cmc_ufl]

I know this post is a little dated, but regarding your concern about treatments being limited for triple-negatives, you should look into getting on some form of interferon. This is not gene-targeted but rather seems to selectively target the altered cells regardless of mutation status. It is the only drug known to slow/stop progression.

I myself am still in the diagnosis phase, possible triple-negative ET. If it comes out that I have ET, my specialist has agreed to try to get me on Pegasys so get a head-start due to my age (30). This is becoming a more popular approach than “watch and wait” for younger patients.