Gene SRSF2

[ktaylor5563]

I'm new here, but have private messaged Hunter who is an inspiration and interesting fact finder. I have MF progressed from PV last year but my recent visit to consultant showed a further 2 mutants. I'm Jak2 positive with SRSF2+1DH2. He has made a referral for Stem Cell Transplant. Is there anyone out there experiencing any of these genes as I believe it maybe a devastating outcome for me. I googled them which was the worst thing to do, my consultant never said what they were and I didn't ask as my head was spinning with news of SCT, my follow up appt in 3 weeks.

[Tico]

Hi ktaylor5563, I really think you should talk to a qualified Mpn specialist about this especially as a sct referral as been made. Although Hunter may be an interesting fact finder, nobody on this forum except when Maz interjects with Professor Harrison is qualified to give a professional medical opinion on here. We can only support,listen and advise on general things. I strongly suggest you seek a second medical opinion about the sct and about the further 2 further drivers. I wish you all the best. Tina.🤗

[ktaylor5563 in reply to Tico]

Hi Tina thanks for getting back I’m new on this forum, the sct referral has been made to a MPN specialist in Glasgow. I’m a bit numb at the minute and Hunter gave me a help on what questions to ask. I do get comfort being on this forum as we all know how each other feels on having an MPN. Karen

[Wyebird]

Hi, you have a lot to take in. I totally understand that your head is spinning. Having those mutated genes is new to me. All I can say is that a donor is found quickly and the STC goes ahead ASAP. Wishing you well in your up and coming battle.

[ktaylor5563 in reply to Wyebird]

Thank you I appreciate your kind words I’ll post when I get any more news.

[Tico in reply to ktaylor5563]

Hi again, karen. Yes please do keep us informed when you get more news as going down the route of an Sct is a major decision and its best if you're well armed with all the available latest information and have a least a second opinion before deciding, as like you said you're still getting your head around it. Wishing you well. Tina.🤗

[ktaylor5563 in reply to Tico]

Thanks Tina 🤗

[hunter5582]

I agree with Tico about getting a second and/or third opinion regarding the status of your MF treatment options, including stem cell transplant option. I would get a second opinion from a MPN Specialist and a third opinion from a transplant specialist.

The short version is that SRSF2+1DH2 are non-driver mutations that are associated with various cancers and progression/prognosis of a MPN. Along with the JAK2 mutant allele burden these mutations determine how the MPN will express. Here are a couple of references in the literature. There are more if you want to look; however, suggest you be sure to talk to the MPN Specialist about this. The literature can make statistical projections about the course of a MPN. This is not the same as your individual prognosis.

ashpublications.org/blood/a...

ashclinicalnews.org/news/ne...

As you likely know from my other positing, I have a JAK2 positive PV and a second mutation, NF1:c5425C>T. The second mutation causes Neurofibromatosis Type 1. It is what caused the brain tumor I had removed last year. The JAK2 + NF1 mutation combination is not well understood but is known to increase the chance of leukemic progression as well as increase the chances of other neoplasms. I understand this, but do not worry unduly about it. I do what I can to optimize my health and minimize my risks. I try to be proactive rather than reactive. My focus is on living a high quality life for however long that may be.

Like you, I have had a lot to deal with in the last couple of years. I have adopted a very informed, assertive and engaged approach to my medical care. I go to every appointment with a written agenda and a list of questions. Memory is not as good when we are stressed and it really helps to be organized.

This is what my Appointment Template looks like.

Treatment goals:

1. Extend quality of life.

a.Protection of cognitive function is the single highest priority.

b.Protecting vision, hearing, other senses and mobility/physical abilities second priority

c.Preserve ability for preferred activities.

2. Extend length of life (only when QOL intact)

a.Philosophically – better to get less tx benefit and preserve QOL with any tx

b.My medical POAs have very specific instructions regarding my care and when to d/c all tx.

Treatment Approach

1.Combine Western Medicine with alternative/complimentary healing methods

2.Rely on evidence-based practices.

3.Weigh the benefits and the risks of any treatment option.

a.Don’t make assumptions. If something can help you, it can also hurt you

b.Pay attention to how treatment approaches, medication/supplements interact

4.Look for underlying cause and links between medical issues.

5.Standard tx protocols are not always the correct approach for any specific person. Individualize tx based on individual medical profile.

6.Treat the whole person, not just the parts.

7.Use MPN-Expert Consultation to inform MPN tx & on other tx needs (e.g. surgery)

Updates on Health Issues

List everything so docs are aware of all that is going on

Issues/Questions

Specific Issues & Questions relevant to this appointment

Treatment Options/Recommendations

Risk/Benefit analysis of all options

Longevity (Just a commentary – do not need to discuss)

1.Understand what the MPN and NF longevity studies and MPN risk calculator show – statistical projections, not an individual prognosis.

2.Expect to live a relatively normal lifespan for an American Male (76.1 years), but not likely well into 80s; however, anything is possible. Treatment options are improving. Perhaps there will be something curative in my lifetime.

3.Have no plans to die on a schedule. No MPN/NF timeclock ticking away. My focus is on living a high-quality life for however long that is possible. All treatment is geared toward this goal.

4.I do not fear death. As a person of faith, I know something better awaits me; however, I am not in any hurry to exit this stage of my existence. Plenty left to do and enjoy in this life and plan to stick around for as long as I have a decent quality of life.

NOTE: I do not usually make doctors talk about the longevity issue. I have found that they often are really uncomfortable with the conversation. It is like it bothers them more than it does me (LOL).

I certainly can understand how worrisome the current news is. Do not give up hope. There are treatment options. You will soon learn more about what the meaning of all of this is and what to do about it. This is the time to surround yourself with positivity and support from family and friends. Educate yourself so you can make good decisions and don't forget to have fun. Fun is really important. That old saying about "Laughter is the best medicine" is actually true.

All the best you you.

[ktaylor5563 in reply to hunter5582]

Thank you Hunter for taking time and effort in reply to my message. I will digest and take ideas from it. I will try to be positive in going forward and only time will tell my outcome. I have a referral to a MPN specialist in Glasgow so I’m sure I’ll be looked after. I will try and laugh more! Best wishes Karen 😀

[hunter5582 in reply to ktaylor5563]

Glad to hear you are going to the MPN Specialist. Do go with an agenda and list of questions. It really helps. It also helps to be clear with you providers about your treatment priorities. And definitely have fun and laugh more 😅😅😅

[ktaylor5563 in reply to hunter5582]

Thank you 👍😀