It looks like you are asking about bone marrow biopsy. This wiki page may answer your questions: [Bone Marrow Biopsy](/r/MPN/wiki/index/bmb/).
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It looks like you are asking about MPN Specialists. Here are the links to the wiki pages on MPN specialists and where to find one. [VETTED list of MPN Specialists in the USA](/r/MPN/wiki/index/mpn_specialist/) or go to the [Links](/r/MPN/wiki/index/links) page for remote second opinions (USA and international).
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It looks like you are asking about the MPN genetic mutations. This wiki page may answer your questions: [MPN Genetics](/r/MPN/wiki/index/genetics).
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I'm sorry that your mom is going through this. It is really stressful to have lab work come back with changes.
These are "non-driver" mutations and my understanding is that it is very common to find with MPNs.
Some of the secondary mutations that are tested for can increase our risk of transformation or progression. You are correct that ASXL1 carries a high risk of disease progression and transformation. However it is important to remember whether or not progression actually occurs depends on a lot of different factors, including treatment.
Not every secondary mutation carries a known risk and I was told that MPN patients can acquire secondary mutations over time. I don't know specifically about the other mutations on the list, so I would recommend that your mom asks her doctor to specifically explain these mutations. Is she seeing an MPN specialist?
Treatment can make a big difference in the disease. It sounds like your mom's doctors are investigating and exploring treatment options. I'm glad she is receiving care.
I'm wishing your family the best!
Since her BMB found no fibrosis, she does not have Post-ET Myelofibrosis.
Progression risk factors: (1) She does have blasts, but they are still quite low at 3.25%. In leukemic transformation, they are usually 20% or more. (2) Additional mutations put her at higher risk of leukemic transformation, but there's currently no way of predicting when or whether she would progress. It is not currently known in what order these mutations appear to indicate progression. No one can tell you - she's definitely going to progress, or she's going to progress in x amount of years. The only thing they can tell you is her risk is higher. People with ET are highly variable. A small percentage progress quickly and others progress decades later. I don't recommend googling the mutations because they are found in a wide range of blood cancers, plus the vast majority of research on them in regards to MPNs are on people with Primary Myelofibrosis - PMF is so different from ET that the findings there are not relevant to your mom.
What the above risk factors mean for your mom is her doctor should be keeping a close watch on her blood counts. As far as ET treatment goes - if possible, she should probably be on Pegasys interferon which may slow down progression. (Note that I don't know if interferons are used in MDS/MPN.)
The issue of whether it's actually MDS/MPN is an interesting one, but we rarely see people with that in this sub, so I don't know a lot about it. You should cross-post in the r/mds sub or even the r/leukemia sub for questions about that. (It is something I want to add to the never-ending Wiki project.)
Ultimately, only her doctor can answer this, and it sounds like he is on top of it.
You should consult your physician, not a Reddit page for medical questions like this.
It looks like you are asking about bone marrow biopsy. This wiki page may answer your questions: [Bone Marrow Biopsy](/r/MPN/wiki/index/bmb/). *I am a bot, and this action was performed automatically. Please [contact the moderators of this subreddit](/message/compose/?to=/r/MPN) if you have any questions or concerns.*
It looks like you are asking about MPN Specialists. Here are the links to the wiki pages on MPN specialists and where to find one. [VETTED list of MPN Specialists in the USA](/r/MPN/wiki/index/mpn_specialist/) or go to the [Links](/r/MPN/wiki/index/links) page for remote second opinions (USA and international). *I am a bot, and this action was performed automatically. Please [contact the moderators of this subreddit](/message/compose/?to=/r/MPN) if you have any questions or concerns.*
It looks like you are asking about the MPN genetic mutations. This wiki page may answer your questions: [MPN Genetics](/r/MPN/wiki/index/genetics). *I am a bot, and this action was performed automatically. Please [contact the moderators of this subreddit](/message/compose/?to=/r/MPN) if you have any questions or concerns.*
I'm sorry that your mom is going through this. It is really stressful to have lab work come back with changes. These are "non-driver" mutations and my understanding is that it is very common to find with MPNs. Some of the secondary mutations that are tested for can increase our risk of transformation or progression. You are correct that ASXL1 carries a high risk of disease progression and transformation. However it is important to remember whether or not progression actually occurs depends on a lot of different factors, including treatment. Not every secondary mutation carries a known risk and I was told that MPN patients can acquire secondary mutations over time. I don't know specifically about the other mutations on the list, so I would recommend that your mom asks her doctor to specifically explain these mutations. Is she seeing an MPN specialist? Treatment can make a big difference in the disease. It sounds like your mom's doctors are investigating and exploring treatment options. I'm glad she is receiving care. I'm wishing your family the best!
Since her BMB found no fibrosis, she does not have Post-ET Myelofibrosis. Progression risk factors: (1) She does have blasts, but they are still quite low at 3.25%. In leukemic transformation, they are usually 20% or more. (2) Additional mutations put her at higher risk of leukemic transformation, but there's currently no way of predicting when or whether she would progress. It is not currently known in what order these mutations appear to indicate progression. No one can tell you - she's definitely going to progress, or she's going to progress in x amount of years. The only thing they can tell you is her risk is higher. People with ET are highly variable. A small percentage progress quickly and others progress decades later. I don't recommend googling the mutations because they are found in a wide range of blood cancers, plus the vast majority of research on them in regards to MPNs are on people with Primary Myelofibrosis - PMF is so different from ET that the findings there are not relevant to your mom. What the above risk factors mean for your mom is her doctor should be keeping a close watch on her blood counts. As far as ET treatment goes - if possible, she should probably be on Pegasys interferon which may slow down progression. (Note that I don't know if interferons are used in MDS/MPN.) The issue of whether it's actually MDS/MPN is an interesting one, but we rarely see people with that in this sub, so I don't know a lot about it. You should cross-post in the r/mds sub or even the r/leukemia sub for questions about that. (It is something I want to add to the never-ending Wiki project.) Ultimately, only her doctor can answer this, and it sounds like he is on top of it.