Hello everyone one
Thank you for reading my second post, I am still trying to get my head around my new diagnosis
I have just asked my haematologist dept,
What have I been diagnosed with besides ET+JAK2 and they have told me they are going to do a bone marrow test to see if I have ….
E2 T2 naturally or whether it is coursed by the ET and JAK2
Does anyone know know what E2T2 mutation means please
Thank you all once again for your most welcomed replies
Hi, I have a Tet 2 mutation with my ET (negative for jak 2). I am not sure if it is the same as yours but it is considered to be my driver mutation although it is one of the less common ones. I do not know if it is better to have a common mutation or a less common mutation, does it make any difference, who knows, I just keep taking my meds and if the platelet count stays within range that's good enough for me. Good luck.
As Janis12 notes, it's likely TET2. There is a post with some info on the subject here:
healthunlocked.com/mpnvoice...
Both INF (interferon) and Rux have been studied with this mutation.
But most of the studies seem to be for PV with TET2, not ET. TET2 is less common with ET, but does occur.
All these new medical terms can be quite confusing at first. It can be quite confusing. Here are a few quick definitions.
JAK2 - Janus Kinase 2. This is a gene that regulates the JAK-STAT pathway, one of the kinase systems involved in making blood cells and other important functions. There are two types of known JAK2 mutations, JAK2v617f (the most common) and JAK2 exon 12 (a more rare form). When there is a JAK2 mutation present, the affected hematopoietic stem cells (HSC) are activated to make blood cells even when they are not supposed to. In essence the "on-switch" is always on. Not all of the HSCs are mutated. Most are wild-type (normal). This balance is referred to a the Mutant Allele Burden or Variant Allele frequency.
ET - Essential Thrombocythemia. The body makes too many platelets due to the JAK2 mutation. JAK2 is considered a "driver mutation" that causes ET and other MPNs. There are two other driver mutations that cause ET, CALR and MPL. There are also people with ET who do not have any known driver mutations. this is referred to as triple-negative ET.
TET2 - Ten-Eleven Translocation 2. This is a gene that is not well understood. It is thought to be involved in some MPNs but it is not well understood what the role is. It is sometimes referred to as a non-driver mutation. It might be involved int he progression of a MPN.
All of these gene mutations can be detected with blood tests. The point of doing a bone marrow biopsy os to get other information. Specifically, a BMB will provide information about bone marrow morphology. This will help confirm the diagnosis and give a status of the current level of fibrosis and other features. They will likely rerun the JAK2 test and determine your current mutant allele burden. They can also do additional genetic testing to look for the presence of TET2 and other non-driver mutations. testing.
Suggest that you consult with a MPN Specialist if you have not already done so. ET is a very rare disorder and most doctors do not have much experience in diagnosing or treating it. Here is a list just in case.
All the best.
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