MPN Genetics: Was out looking at some material and... - MPN Voice

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MPN Genetics

hunter5582 profile image
18 Replies

Was out looking at some material and came across this presentation about MPN Genetics by Dr. Jerry Spivak. (9th International Symposium on Myeloproliferative Neoplasms). Very interesting and comprehensible explanations.

youtube.com/watch?v=OGH89kQ...

The next International Patient Symposium is scheduled for Oct. 28, 2020. Belfer Research Building – Weill Cornell Medicine

, New York, NY 10021. crt.org/international-patie...

I am thinking this will likely be cancelled or moved to on-line. I will be tracking to see.

There are some other very interesting videos on this site as well.

crt.org/mpn-patient-symposi...

Hope you all find it of interest.

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hunter5582 profile image
hunter5582
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Scrollernut profile image
Scrollernut

If chemo is not to be used as a first line of defense, if I understand it correctly, then why are most people on chemo drugs? Have I misunderstood something in his summery? If not chemo then what? Very interesting video but still not understanding the disease.. thanks for sharing it.

hunter5582 profile image
hunter5582 in reply to Scrollernut

There is debate amongst the experts about when to engage in chemotherapy. Dr. Spivak favors a more conservative approach that avoids the use of highly toxic chemotherapy medications. When medication is needed, he is much more likely to recommend PEGylated Interferon, which is an immunotherapy rather than chemotherapy. Other docs on this panel, like Dr. Robert Silvers agree. The long-term results for PEGylated Interferon are looking better all the time. The potential for hematologic and molecular remission with PEGint are promising. He also dos not favor medications that are mutagenic, carcinogenic and potentially leukemogenic when there are other options. The comments he makes about aspirin are based on his experience with MPN patients as we age. For many our risk of hemorrhage becomes greater that the risk of thrombosis. That is why the American Heart Association changed the recommendation for aspirin in people over age 60. He bases the use of aspirin on a case-by-case analysis of what the patient needs. Likewise any other medications.

My take on all of this is that we each need to expose ourselves to a range of options/opinions for treating our MPNs. It is the only way we can make the best decisions regarding our own care. I am following Dr. Spivak's recommendation regarding my own care for PV, phlebotomy only; however, not just because he said so. I am doing it because based on my own negative experience with HU and my hx of excessive hemorrhage while on aspirin it is the right choice for me. For now. It will change at some point.

Hope that helps

Scrollernut profile image
Scrollernut in reply to hunter5582

Very interesting. Because of side effects from Hydrea we decided to take me off of it and just do aspirin. I’m taking 160 mg instead of the 80. That’s my choice as aspirin has never bothered my stomach and I’m hoping the higher dose will continue to keep the count down. Chemo has never been high on my list of go to meds. My husband had an astrocytoma ( brain cancer) and was on a chemo drip. Didn’t do him much good. Died within a few months after starting it. Sometimes I wonder if prolonging life just for the sake of prolonging it is always a good choice. It’s a clique I know but it really does comes to a matter of quality years over quanity of years. They were not quality months. It was not pleasant for either one of us. Having both is ideal but not always a choice. Not an easy choice to make. Love to all. ❤️

hunter5582 profile image
hunter5582 in reply to Scrollernut

Sorry to hear about the loss of your husband in such a difficult way. The brain tumor I had was also an astrocytoma. Mine was thankfully benign and treatable. It may well likely recur someday due to the Neurofibromatosis, but I will deal with that if I need to. Between the heart surgery and the brain surgery, it really made me come to terms with what matters to me most.

I definitely agree about the quality of life vs length decision. I give all of my providers that explicit instruction. All of my medical decisions are guided by the principle that quality of life matters more than its length. All of my medical POAs also have very explicit directions about making decisions on my behalf should it ever come to that.

I am glad that you came off the HU when you encountered toxicity. Too many providers push to continue despite the adverse effects. There really are better choices.

All the best to you my friend 💛

My hematologist is very keen to start hydroxyurea, because it is prototcol!!!I have ET with CALR mutation. I am now 68 and still researching different treatments for this disease. Weare unfortunate here in NZ with no MPN specialists. My platelet account is 700 and has been stable for 5 years. I have no symptoms of ET so apart from age and platelet count. I will continue to watch and wait and carry on with life!!!

hunter5582 profile image
hunter5582 in reply to

Based on what I have learned, I would continue to take that approach if it is working for you. If you really do need medications to control the ET issues, there are are other options. I think you have already seen this, but just in case

youtube.com/watch?v=hbVr9u3...

drugs.com/monograph/hydroxy...

rxoutreach.org/monograph/hy...

FYI - Dr. Spivak was my consulting MPN expert prior to his retirement from clinical practice. He is a one of the world's leading experts on MPNs. Not everyone agrees with his views. For myself, I look at the age guidelines as just that - guidelines. They may apply to many, but not all people. I am age 65 with PV on a phlebotomy-only regimen. I am also HU-intolerant - toxic effects at sub-therapeutic doses. That does color my views. Others do have a different experience and opinion. Unfortunatley, HU is a lot cheaper than most other options so many doctors are under pressure to use it to save healthcare systems money. Hu may be as littel as $70/month compared to $4000/month for some of the newer (in my view better) options.

Hope that helps. All the best to you.

Windy51 profile image
Windy51 in reply to

Thanks for the videos

Mostew profile image
Mostew in reply to

My hematologist wanted me to take hydro right away

. For a few months I pretended I had , so they would do regular blood tests . Then said I’d stopped as it wasn’t agreeing with me.

Now I’ve changed to a more understanding Dr. She sees I’m ok and has said it’s ok to wait till platelets go up to 1500 .

Glad I can be honest now !!

hunter5582 profile image
hunter5582 in reply to Mostew

Sorry to hear you had to be duplicitous to get the care you needed. Noone should feel the need to do that. The next time it looks like you need meds, there are other options. I certainly will never take HU again myself. there are much better choices for me when it is time for meds again. Wishing you continued success in managing your health the way you want to.

Mostew profile image
Mostew in reply to hunter5582

Thank you .

Yes I must bear in mind possible other options if needed . Have no idea what ..

I have JAK 2 positive

Always good to hear your thoughts

hunter5582 profile image
hunter5582 in reply to Mostew

The simple answer is PEGylated Interferon and Ruxolitinib (or another JAK-inhibitor). There is a third tier of options that include anagrelide and busulfan. PEGint and Rux are in many ways preferable options, but they are much more expensive. Do understand that it can be an uphill battle to access more expensive meds. Healthcare systems prefer to use cheaper options even when they are less optimal treatment options (provided they are "good enough").

josup26 profile image
josup26

Thank you Hunter this was very interesting. Though I don't understand some of the medical terms It help with how the PV works. I would be most like any information you can provide. Thank you once again.

Scottishterrier profile image
Scottishterrier

I do because i was diagnosed with ET jak2+ in 1994 and about 3 year ago it was when was we had the beast from the east my father was taken into hospital suddenly as not feeling well and bloods were not good so i told my mum to mention that his Daughter suffers from ET jak2+ so they got a registrar from Heamtology came down and did new bloods asked about my history low and behold three weeks later he got an appointment with my consultant tests came back that he has pv he has had many venesections on hu and folic acid if i had not mentioned it to my mum he could have went years without it being detected strange father and daughter both with MPN and under same consultant

stay safe

Scottish Terrier

Mostew profile image
Mostew

Thanks . Just lookEd up Interferon . Looks like wouldn’t be suitable for me as I also have Hashimoto S . (Fortunately no symptoms )

Will look up others later

Best to be prepared ...

hunter5582 profile image
hunter5582

It stinks when the co-occurring conditions pile up. Believe me i know!! It makes the care really difficult to manage. I hope you find some good options if the need arises.

socrates_8 profile image
socrates_8

Hey Hunter... 8-)

Hope all's well in your world buddy...

Thanks for this Presentation. It is indeed quite fascinating over and across many levels:

* Aging being the precursor of most mutations (seems logical even though it does not necessarily explain why, I suspect it is the normal wear & tear of physics over a human timeline - if that makes sense?)

* PV - And why all MPNs are very specific

* Sex - And the role it has w/ MPNs & partially the reason as to why (gender constitution & expression etc)

* However, and of some noted import - Allele burden & why it appears to be so very important in first establishing a 'Benchmark' for a Quantitative level of an MPN disorder & Secondly, to follow ones progression (or lack thereof over a time frame etc)

* Finally – Why Chemotherapy solutions are NOT the way to go...

As I said, fascinating insights indeed buddy...

Thanks again Hunter

Stay safe & well...

Steve

IrishSarah profile image
IrishSarah

Fascinating stuff Hunter, thanks for sharing. I really enjoy hearing Dr.Spivak speak - he does such a great job of simplifying the data!

I’m particularly interested in following the thread on Allele burden as a measure of disease. It makes me wonder if focusing on platelet counts as a sole indicator of when to intervene with treatment is the wrong approach. Does it make more sense to keep an eye on Allele burden 🤔

Also curious about what the correlation is between Allele and symptom burden. My specialist’s opinion is that my platelets aren’t high enough to cause the symptoms I’m experiencing (compared to other ET patients). I wonder is it possible to have comparatively higher allele burden & lower platelet count. Or maybe I’m misunderstanding how the cascade works 🤷🏼‍♀️

hunter5582 profile image
hunter5582

Dr. Spivak is a great speaker. He is a terrific doctor too. He was my MPN consultant. I was sorry that he retired from clinical practice, but i guess he needs a break after 47 years of practice.

You are quite correct that the coagulation cascade is quite complex. There is way more to it than the number of platelets. There is evidence that some people have "extra sticky" blood cells and likewise the lining of the vascular endothelium. On the other hand, for some (like me) as platelet levels go up - it is the risk of hemorrhage that increases. My regular hematologist (another great doc) explained it this way. Platelets are like bricks. They do not stick together on their own. To build a wall you also need mortar. Just because there are too many bricks does not mean there will be a wall.

I just had the conversation about allele burden with my new MPN-Specialist (who Dr. Spivak trained). they do not recommend routinely tracking allele burden, unless there is a reason to do so. What they do track is symptoms of the MPN. If there is a change in symptoms, then they will check/recheck allele burden and possibly bone marrow biopsy. They do not favor trying to "sanitize" blood cell numbers. They do favor reducing symptoms and risks. Chemotherapy. particularly long-term, has the potential to do more harm than good.

There is mixed evidence about the role of mutant allele burden and symptom load and prognosis. While not all agree, I think the mounting evidence is that increasing mutant allele burden is associated with greater symptom load and a less favorable prognosis in terms of disease progression. The correlation is not completely linear however. It is more complex than that. Hopefully it will be better understood over time.

All the best to you my friend.

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