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pennyhedgecoth (@pennyhedgecoth)

JAK2 ASXL1 Mutations: Anyone else?

Blood Cancers & Disorders | Last Active: Nov 24, 2021 | Replies (16)

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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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Replies to "Hi @pennyhedgecoth and welcome to the Blood Cancers & Disorders group. I'm glad you found us...."

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.

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!

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

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