Have ET but not the hallmark genes, Jak2, CalR, etc...

[Jschwab]

Would a genetic analyses be able to determine which gene/s of mine are mutated? For example my TPS9 is, or whatever a gene name would be.

[katiewalsh]

Hi. I think most doctors run genetic tests for their MPN patients but I’m not certain. Experts have found some gene mutations that are similar in some of us & expect they may find more in the future. Are you wondering specifically about testing for genetic mutations for your MPN? Katie

[Jschwab in reply to katiewalsh]

Yes I will be asking my doctors to do a gene panel and I want to learn about the difference between the two types of mutated genes, common vs. uncommon. Does one or the other have a better prognosis, do certain drugs work better on certain genes, etc. I find this all fascinating.

[nodmeister]

My first bmb was in 2012 and I was triple neg. 2 weeks ago I had another one done as they have found more genes mutations. I forgot to ask what they are but I will find out at my next appointment.

[Jschwab in reply to nodmeister]

Yes let me know! I imagine they are not the common ones...?

[socrates_8]

Hey there Jschwab...

Sorry to learn that you are feeling a tad disconcerted by the uncertainty of your diagnosis, at this point. However, sometimes, not finding the responsible culprit might even prove to be a good thing... Best to always be optimistic, in my view...

Having said that, there are generally two (2) distinctly different types of genes that we MPNers are usually tested for.

1. The first ones are commonly referred to the 'Driver' mutations, and they include the ones you mentioned above, and they usually assist in determining which MPN we might have:

* JAK2 *MPL * CALR (Types 1 & 2) There are also some less common types of CALR too I believe...

* Triple Negative, is obviously when someone doesn't have any of the aforementioned 'Driver' mutations

2. The second type of gene mutations we are sometimes tested for are known as 'High Risk' (HR) mutations, and there are too many different types to attempt to mention them all here.

These gene mutations are usually done via what is called a 'Gene Panel Test', where the samples are sent away to a special lab and the results can take many weeks to materialise. This is sometimes called NGS, 'Next Generation Sequencing', where they test for 28 different genes, including some of the following:

* SF3B1, SRSF2, U2AF1, TET2, TP53, ASXL1, IDH1 & IDH2, & EZH2

Here is a Link that might help explain a little more for you:

hematology.org/Thehematolog...

Hope some of this might help a little... (?)

Best wishes, and try to be a little patient with yourself while you are in this limbo world for the moment...

Steven

(Sydney)

[Jschwab in reply to socrates_8]

Thank you Steven- this is a huge wealth of information and I know what to ask for now in regard to this, the gene panel test. Amazing!

[Shellbi in reply to socrates_8]

IThank you for this info. I too tested triple negative but apparently I have a mutation is ASXL1 and TP53. That was just from the MPN Mutation report that only test for 12 mutations.

[socrates_8 in reply to Shellbi]

Hey Shellbi...

Yes, sometimes they only do a shortened test... It's that old chestnut called 'money' that is the limiting factor here one feels...

How long ago were you tested/diagnosed Shellbi?

What is your current diagnosis and what symptoms do you have if any etc?

Best wishes

Steven

[Shellbi in reply to socrates_8]

I do not have a diagnosis at this time. I am seeking a 2nd opinion from a specialist recommended on the mpn forum list. The hematologist that evaluated me told me on Monday to come back in a year since I tested triple negative. He said that 99.9% of MPN patients to not have symptoms and he did not see the need to even do a BMB.

I have had high platelets since early 2016 along with high ferritin levels. Platelets are now ranging between 455 and 475, so not significantly elevated but enough to meet the ET diagnostic criteria for platelet levels. My abs. neutrophils have also been elevated off an on of late. He ran autoimmune antibody testing which all came out negative. I have no known infections or viruses. Symptoms are fatigue, headaches, episodic visual auras, increased palpitations, rapid heart rate, shortness of breath, slight pain under ribs in upper left abdomen, discomfort of feeling full after eating, intermittent low grade fever and intermittent discomfort in lymph nodes.

I'm confused by the report for the mutations as it reports the ASXL1 L815P and TP53 P72R mutations are benign or likely benign. But from my research I noted that the ASXL1 L815P mutation is seen in MPN's in some cases.

Anyway, I'm hoping the new specialist will be more willing to get to the bottom of whatever is going. From what I understand having high ferritin levels is not good and mine has been going on for almost 4 years.

Anyway, thanks for asking. What about you?

[socrates_8]

Hey Shellbi...

It might be worthwhile to ask your GP to do an Ultra sound on your abdominal area to see if you have any enlargement of your organs.

It is very true indeed that many people with MPNs are asymptomatic. However, some of the symptoms that you mention are in keeping with an MPN too... Fatigue can also be extreme in MPNs.

Shellbi, if you are on the younger side of 50, and eventually diagnosed with an MPN... (?) Often, (generalisation), many are only given aspirin to help prevent a thrombotic event from occurring. Given that your platelets are only just above the normal range... Perhaps your current doctor believes that at the present a 'Watch & Wait' approach is all that is needed, and for many with an MPN, that is sometimes what we all must do ...

Nevertheless, having a 2nd opinion doesn't hurt, and if nothing else might help confirm the first finding... How old are you Shellbi?

I found switching to an anti-inflammatory diet has really helped me, and these days I also do a lot of cycling, which is also very beneficial to my health...

Best wishes Shellbi. Try to be patient with yourself ... I do understand that it's not easy waiting ...

Steven

[Shellbi in reply to socrates_8]

Thank you Steven. I am 53. I also eat an anti-inflammatory diet and get regular exercise. My weight is good, but I have dropped about 8 pounds in the last 2 weeks.

If it was just my platelets that were elevated than I would be so okay with a wait and see approach. But what started this whole journey for me was my regular doctor flagging really high ferritin levels. That was the reason I was referred to the hematologist. The hematologist is the one that first indicated it might be an MPN because he noted that in addition to the high ferritin I have had a steadily increasing high platelets level for 3 1/2 years. He ruled out hereditary hemochromatosis and my iron saturation levels are also normals. This means my high ferritin is an acute phase reaction to some underlying problem.