GeneChat

Jak2 and KIT

gwas
23andme
genetics
snps
livewello

#1

Anyone dealing with this? I am have burning sensations all over my body (which comes and goes - not like a straight up hot flash) and just had a biopsy of of Stomach showing more than 70 mast cells (no Ulcer). I have lost 115 pounds in 6 months, nausea, vomiting, fatigue, can’t eat much as it hurts my stomach! They best part of it is losing my mind. The doctors near me can’t figure it out!


#2

I just found out that I have the Jak2 mutation. I googled it, but couldn’t find out exactly what this means. Higher risk for rare blood disorders?

Anyways, recently I’ve been experiencing very strange sensations all over my body, like an intense deep down insatiable itch, or falling asleep/pins and needles feeling.


#3

Check out Mastocytotis http://www.aaaai.org/conditions-and-treatments/related-conditions/systemic-mastocytosis A Derm told me once that an itch in one person is a burn in another. Same reason, just different reaction.


#4

Did a doctor run the mutation test or did you see it in your germ line tests through 23andme, etc. as a homogeneous carrier? The Jak2 gene gives you the ability to mutate to being Jak2 positive. If you did test positive, you should see your oncologist/hemotologist as soon as possible. The Jak2 mutation is commonly the cause of of a myleoprolific disorder, (commonly known as an MPN). ET, PV, CML or Myleofibrosis. Yes, the Jak2 can cause Systemic Mastocytosis, however, it is far more common to see an MPN vs mastocytosis with this gene mutation. The C-Kit gene is commonly associated with Systemic Mastocytosis. I have the ability to mutate to either, my Mom is Jak2 positive and has ET (very treatable but needs to take a Chemo pill daily), she should see no difference in lifespan. I got C-Kit with Aggressive Systemic Mastocytosis, which is definitely worse, but the new drugs are putting many patients into remission (38%), before it was a death sentence. I hope this helps.


#5

What is C-Kit? Is that a gene or a test? I did 23&me and ran it through Promethease and came out with
rs12340895 (G;G), And rs4495487 (C;C). I am 47yo Female. Does this mean anything? What should I do?


#6

Have 3 hetero snps for jak2. Im really worried now.


#7

Don’t! Just because you have the snp doesn’t mean your body will actually mutate. JAK2 is not visible until you mutate. Only about 10% of people with this will actually mutate. Take a deep breath and now that most people with this mutation get ESSENTIAL THROMBOCYTHEMIA something that is treatable but chronic.


#8

Thank you for replying! So hard not to get overly worried after reading into these things lol. I also have mutations on the TET2, KIT, CD2, and PDGFRA genes. Do you know if this contibutes to risk factor?


#9

Also I saw your other post about the FLT3 gene. I have 5 hetero snps and 1 homo for that.