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

Hi @pennyhedgecoth and welcome to the Blood Cancers & Disorders group. I'm glad you found us. It is such a challenge to be a caregiver at this time and not be able to accompany your husband to his appointments. I hope you are able to ask your questions through the portal.

I'm going to take a minute to spell out several of the acronyms, although I suspect most people in this group know they all, but just in case:
BMB = Bone marrow biopsy
MPN = Myeloproliferative neoplasms
PV = Polycythemia vera
HCT + hematocrit

From what I've read ASXL1 mutations often co-occur with JAK2 V617F. I'm tagging fellow members @mjpm2406 @helen2209 and @stevehurlburt, who know more than I do and may be able to share their experiences.

Penny, what questions are you wanting to ask the oncologist?

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@colleenyoung

Hi @pennyhedgecoth and welcome to the Blood Cancers & Disorders group. I'm glad you found us. It is such a challenge to be a caregiver at this time and not be able to accompany your husband to his appointments. I hope you are able to ask your questions through the portal.

I'm going to take a minute to spell out several of the acronyms, although I suspect most people in this group know they all, but just in case:
BMB = Bone marrow biopsy
MPN = Myeloproliferative neoplasms
PV = Polycythemia vera
HCT + hematocrit

From what I've read ASXL1 mutations often co-occur with JAK2 V617F. I'm tagging fellow members @mjpm2406 @helen2209 and @stevehurlburt, who know more than I do and may be able to share their experiences.

Penny, what questions are you wanting to ask the oncologist?

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I’m not a geneticist so I’m limiting my comments accordingly. The ASXL1 mutation appears in many MDS, MPN, MDS/MPN Overlap disorders and it’s common in patients with AML. My initial reading of the NIH database indicates the ASXL1 mutation typically is associated with a poor prognosis. Your Hematologist is off base when he said, “all MPNs are the same.” That’s nonsense. The variations of these disorders is different and those differences are normally determined by which genes have mutated and how much, if any, proteins those mutated genes are producing and whether the gene switch is on or off. You can google ASXL1 mutation and you’ll go crazy trying to read the medical journals. The NIH and the American Society of Hematology web pages are good sites for “basic information.” I would have very frank discussions with your oncologist at the Mayo Clinic. Those doctors are some of the best oncologists in the world. But research this mutation and write down your questions. When you meet with your doctors at the Mayo Clinic ask those questions. Don’t leave until you get answers to all your questions. You have to be your husbands advocate. Good luck.

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@colleenyoung

Hi @pennyhedgecoth and welcome to the Blood Cancers & Disorders group. I'm glad you found us. It is such a challenge to be a caregiver at this time and not be able to accompany your husband to his appointments. I hope you are able to ask your questions through the portal.

I'm going to take a minute to spell out several of the acronyms, although I suspect most people in this group know they all, but just in case:
BMB = Bone marrow biopsy
MPN = Myeloproliferative neoplasms
PV = Polycythemia vera
HCT + hematocrit

From what I've read ASXL1 mutations often co-occur with JAK2 V617F. I'm tagging fellow members @mjpm2406 @helen2209 and @stevehurlburt, who know more than I do and may be able to share their experiences.

Penny, what questions are you wanting to ask the oncologist?

Jump to this post

Penny…what was the determination? EV..PV? I too was diagnosed 3 years ago. BMB confirmed PV with a Jak2 mutation. At that time there were less Mutations they could test for. I go back in to Mayo in a few weeks to run the now 25 generic mutation blood panel and a 2nd BMB. Fortunately I am at Stage 1… but after 3 years on Hydrea..I developed Rare Sideffects and was just approved to switch to Interferon/Pegasus yesterday. My oncologist suggested Jakafi…but Phoenix has some world class Specialists …dr Palmer @ Mayo and dr Nath @md Anderson. They suggested I might slow any progression with Interferon. Not sure who you use at Mayo, but I assume they consult with Dr Palmer and after all my research I know you are in good hands. Happy to talk more once I too get more on my specific genetic markers. Best of luck to you and your husband. You found a great resource here and @Mayo Phoenix!

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@stevehurlburt

Penny…what was the determination? EV..PV? I too was diagnosed 3 years ago. BMB confirmed PV with a Jak2 mutation. At that time there were less Mutations they could test for. I go back in to Mayo in a few weeks to run the now 25 generic mutation blood panel and a 2nd BMB. Fortunately I am at Stage 1… but after 3 years on Hydrea..I developed Rare Sideffects and was just approved to switch to Interferon/Pegasus yesterday. My oncologist suggested Jakafi…but Phoenix has some world class Specialists …dr Palmer @ Mayo and dr Nath @md Anderson. They suggested I might slow any progression with Interferon. Not sure who you use at Mayo, but I assume they consult with Dr Palmer and after all my research I know you are in good hands. Happy to talk more once I too get more on my specific genetic markers. Best of luck to you and your husband. You found a great resource here and @Mayo Phoenix!

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Just checking in with you
Did you have your genetic mutation testing? Do you have the ASXL1 mutation

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@pennyhedgecoth

Just checking in with you
Did you have your genetic mutation testing? Do you have the ASXL1 mutation

Jump to this post

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

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@colleenyoung

Hi @pennyhedgecoth and welcome to the Blood Cancers & Disorders group. I'm glad you found us. It is such a challenge to be a caregiver at this time and not be able to accompany your husband to his appointments. I hope you are able to ask your questions through the portal.

I'm going to take a minute to spell out several of the acronyms, although I suspect most people in this group know they all, but just in case:
BMB = Bone marrow biopsy
MPN = Myeloproliferative neoplasms
PV = Polycythemia vera
HCT + hematocrit

From what I've read ASXL1 mutations often co-occur with JAK2 V617F. I'm tagging fellow members @mjpm2406 @helen2209 and @stevehurlburt, who know more than I do and may be able to share their experiences.

Penny, what questions are you wanting to ask the oncologist?

Jump to this post

What makes the ASXL1 mutation have a poor prognosis and does this mean his blood cancer has turned into aml

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@pennyhedgecoth

Just checking in with you
Did you have your genetic mutation testing? Do you have the ASXL1 mutation

Jump to this post

Hi @pennyhedgecoth, I'm tagging @stevehurlburt on this reply since I think your question about genetic testing was directed to him.

The ASXL1 gene is one of the most frequently mutated genes in malignant myeloid diseases. I believe that are often associated with a modestly poorer prognosis because they can be aggressive. It appears your husband has in the meantime been given the diagnosis of polycythemia vera, right? Or AML?

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Yes polycythemia Vera
I asked the oncologist about AML but she was very vague and just said she need to monitor him closer
It’s all so frustrating

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@pennyhedgecoth

Just checking in with you
Did you have your genetic mutation testing? Do you have the ASXL1 mutation

Jump to this post

Yes
ASXL1 JAK2 v617f and Jak2 exon 12-15

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@pennyhedgecoth

Yes polycythemia Vera
I asked the oncologist about AML but she was very vague and just said she need to monitor him closer
It’s all so frustrating

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Hang in there @pennyhedgecoth e! Has a JAK 2 gene or CALR mutation been revealed in any of the genetic testing? Also, did he ever receive a bone marrow aspiration?

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