jak-2 mutated

[Jody00]

could I ask if anyone knows about jak2 mutated postive tested has i still not right sure what it means its on my letters with the condition ive got essential thrombocythaemia which could get aggressive into thrombosis but also says could progess to myelofibrosis or acute myeloid lumkemia ?

[Dovme]

Hi Jody

This link from MPN Voice covers lots of this information. l found it useful when l was first diagnosed

You will find lots of other links booklets about MPNs etc via this site

mpnvoice.org.uk/about-mpns/...

[Jody00 in reply to Dovme]

Thats great il have a look on it now thankyou again Xx

[Lifam]

Did you have a BMB?

[hunter5582]

JAK2 = Janus Kinase 2 gene. There are two JAK2 mutations that can currently be tested for. JAK2 v617f is the most common. There is also JAK2 exon 12. The JAK2 mutation occurs in hemopoietic stem cells, which are the progenitor cells for both the lymphoid and myeloid cell lines. The myeloid line gives rise to red and white blood cells and platelets.

The JAK2 mutation causes the affected cells to self-phosphorylate. That is a scientific way to say that it causes the "on-switch" to be "on" all the time. This causes your body to make too many blood cells. It can be platelets (thombocytosis), red blood cells (erythrocytosis), and white blood cells (leukocytosis). It can be any one of these blood cell lines or any combination of the three.

The JAK2 mutation affects the JAK-STAT pathway. This is what is one of the body's kinase systems. The JAK-STAT pathway does more than drive hematopoiesis (blood cell production). It is also involved in immune system, hormone production, and inflammatory response. The JAK2 mutation is a "gain-of-function" mutation. It makes your body do more of something. In addition to increasing hematopoiesis, it can also increase the production of inflammatory cytokines. This increased inflammatory response is thought to be responsible for many of the secondary symptoms we experience.

There are different levels of JAK2 mutation that can occur. If you look at your lab, you may see a % attached to the JAK2 finding. This indicates the percentage of your hemopoietic stem cells that are mutated. This is an important thing to know as it affects how your MPN presents, though how this works is not totally understood. Broadly speaking, less is better.

There is a lot to learn as you enter this MPN journey. The good news is that you will have a lot of time to learn it. I was diagnosed with ET about 30 years ago. About 7 years ago, it progressed to PV. At age 65 I am still alive and kicking. I have had and continue to have a good life. There have been some challenges along the way, but challenges can be overcome.

You have landed in a great place on this forum. There is a lot of good information and support here. Dovme already pointed you to an excellent resource to start learning about your MPN. You already know about the risk of progression, but remember that the vast majority of people with ET do not progress to AML or MF. Most people with ET live normal to near-normal lifespans.

The next step is to create a good treatment team for your MPN and other conditions. Finding a MPN-expert physician is an important thing to do, Most docs, even hematologists, do not have the expertise in MPNs to provide optimal care. MPNs are rare, and many docs never encounter one (or very few) in the entire careers. Here is a list of MPN-expert docs.

mpnforum.com/list-hem./ .

All the best to you as you enter this journey.

[Jody00]

Thankyou very much for reply back I am started to understand now about jak2 mutated am glad I found this site a know alot more then what I have done, cos at moment I only have telephone appointments every 3 months get letters posted with details on cos of the covid19 ive only had 1 quick face to face when I got diagnosed end of march this year when the lock down started to begin so wasn't too gurd but thankyou u you guys am starting to all information I need to know.thankyou very much 😊Xx

[soisew]

I am 78 and have had polycythemia vera since my early 30s. This is an overly simplified version. the jake2 knows when you need more blood cells.it tells your bone marrow to make more blood when there is enough it tell the bone marrow to stop.

when it is mutated, it is like a broken light switch,it can't go on or off. My body takes all the iron from my food and makes blood. I have to eat low iron food to avoid needing to have blood removed. I did not have to have one for two years but I ate some chicken livers. The next time I had my blood test, they had to remove 400cc. My body makes to many red, white and platelet cells. I hope you understand what i an trying to asy.