JAK2 ASXL1 Mutations: Anyone else?

Posted by pennyhedgecoth @pennyhedgecoth, Dec 9, 2020

My husband was diagnosed June 2019, he had been hospitalized in 2017 and went into septic shock only to realize he had a hole in his colon. The Dr said this was most likely a blood clot and they said ischemic colitis. They feel he had the ET at that time. He was diagnosed with ET as his platelets were high and he had a JAK2 v617f mutation. The oncologist immediately started him on hydroxyurea and aspirin. In Dec 2019 he had a BMB not really sure about the results of that, but he started phlebotomy every week at that point. I asked about PV but the oncologist said all MPN’s are the same.
He did the phlebotomy for about two months once a week and then gradually went every other week and then once a month. When COVID started his oncologist didn’t see him in the office he had phone appointments. How can they check his spleen and liver over the phone. He also has non alcoholic fatty liver disease. April was the last phlebotomy appt as his hct was under 45. We have since moved to Arizona and he now goes to Mayo Clinic. The oncologist has performed a new BMB and has several new results. A JAK2 exon 12-15 mutation and an ASXL1 mutation. Several other results that we were never given before, we have a portal that we can see all results. My question is this. Does anyone know what the ASXL1 mutation means and do you have that as well. With COVID I can no longer accompany him in his appointment and I have a million questions for the oncologist. Thanks for any info you can share

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@pennyhedgecoth

It doesn’t say much about the JAK2 exon 12-15 mutation
I’ve attached the reports to this, I hope you can read it

On the ASXL1 c is 1720 p has a question mark
ASXL1 41%
Jak2 13%
Jak2 c is 1849 p is the VAL617
I hope this is what you were asking for
So sorry it took so long

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Hi Penny, please note that I removed your personal email from your message as well as the attached documents, since they contained personal identifying patient information. You are allowed to post the attachments again, but please make sure to black out or crop out the patient identifiers, such as name, address, institution and patient number. If you wish to share contact information with another member, please use the secure private message function.

How is your husband doing?

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@colleenyoung

Hi Penny, please note that I removed your personal email from your message as well as the attached documents, since they contained personal identifying patient information. You are allowed to post the attachments again, but please make sure to black out or crop out the patient identifiers, such as name, address, institution and patient number. If you wish to share contact information with another member, please use the secure private message function.

How is your husband doing?

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He is doing okay

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@pennyhedgecoth

PV with Jak2 v617f and Jak2 exon 12-15 and ASXL1 mutations

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Sorry for the delayed response, yes…tested for 25 mutations…I have 8.. including Jak2 and ASXL1 but other than the Jak2… the other mutations they identified are not yet well enough researched to be clear what they mean. I know…how can they know you have it but not know what it means? Well, all I can say is we have a rare disease and it has not been fully researched. I have gotten used to hearing…” we do not know”.
I also tried Pegysus/Interferon injections for 6 Months but found myself sleeping 14+ hrs per day and never feeling rested. Due to NO quality of life, I Returned to Hydrea. Unfortunately, I developed issues with my right foot. Toes started to die…but after Mayo hospitalized me and ran 25 drs from 4 departments in…we did a stent, added blood thinner, and increased my Hydra. Went from a 50-50 chance of losing the foot to latest is it will be SAVED! Mayo saved my foot! It has been a tough 4 months, and my wife has been the best caregiver throughout. We have not had fun thru this but she keeps me focused and we are returning back to Normal.
Challenges with this disease are many and not well understood. But I can tell you at Mayo, you are in Great hands.

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@stevehurlburt

Sorry for the delayed response, yes…tested for 25 mutations…I have 8.. including Jak2 and ASXL1 but other than the Jak2… the other mutations they identified are not yet well enough researched to be clear what they mean. I know…how can they know you have it but not know what it means? Well, all I can say is we have a rare disease and it has not been fully researched. I have gotten used to hearing…” we do not know”.
I also tried Pegysus/Interferon injections for 6 Months but found myself sleeping 14+ hrs per day and never feeling rested. Due to NO quality of life, I Returned to Hydrea. Unfortunately, I developed issues with my right foot. Toes started to die…but after Mayo hospitalized me and ran 25 drs from 4 departments in…we did a stent, added blood thinner, and increased my Hydra. Went from a 50-50 chance of losing the foot to latest is it will be SAVED! Mayo saved my foot! It has been a tough 4 months, and my wife has been the best caregiver throughout. We have not had fun thru this but she keeps me focused and we are returning back to Normal.
Challenges with this disease are many and not well understood. But I can tell you at Mayo, you are in Great hands.

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Welcome back, Steve. Welcome back with both feet! That's amazing that you went from a 50/50 chance of losing your foot to it being saved. Kudos to Mayo, but also to your amazing wife and caregiver. I'm sure she was worried throughout all this too. All the best as you ease back into normal.

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