Bmb negative for ET

[SOD2]

Has anyone else been diagnosed with ET even though they had a normal Bmb result? I have ET with germline MPL mutation apparently. Last platelet count was 776. On aspirin 75mg. Due to start hydroxycarbamide after a TIA in April.

[socrates_8]

Hi there SOD2...

Welcome to our rather exclusive little club.

Firstly, yes MPNs are now officially recognised as a form of blood cancer by the World Health Organisation (WHO) 2008.

Secondly, your ET has already been confirmed by the MPL mutation that you have mentioned. The BMB, usually is done to learn if there is any scarring (fibrosis) to the bone marrow. The fact that yours is normal is a very good thing...

There are a number of videos that can be found on this by viewing them through Patient Power - Andrew Schorr (link):

patientpower.info/myeloprol...

Best wishes

Steven

(Sydney)

[SOD2 in reply to socrates_8]

Thanks Steven. I really appreciate the response. It can get confusing with all of the different factors associated with mutation's and mpns. Do you know if most people have full mutation's or not. As mine is genetic I only have half of my cells mutated. I've been told that most peoples are acquired.

[Wentry in reply to SOD2]

Hi SOD2,

Welcome as Steve says 😄 The amount of mutated cells in the blood is called the allele burden and is usually given as a percentage, mine was <5% at the last measurement. However the allele burden doesn't always correlate with symptoms. I'm JAK2+ which is normally acquired through environmental exposure but they don't fully understand it yet, although I think there has been an instance of a baby being born with it but it's extremely rare in young children.

As Steve said, if your BMB has shown no fibrosis yet that's great news as it means the disease is still in the early stages and could stay like that for years, different people progress at different rates.

I don't know much about inherited mutations if they're saying that's what yours is?

Kind regards

Wendy

[SOD2 in reply to Wentry]

Thank you Wendy! Yes they are saying that it is inherited as my mom has it too. She was tested after they found mine.

[socrates_8 in reply to SOD2]

Hi again...

As Wendy explained, most people I am aware of w/ an MPN have mutations that are referred to as acquired. In point of fact, this makes you even more unique, from my perspective...

You are the first person I have ever spoken to with an MPN whose mutation is genetic.

Fascinating just how diverse we might all be, and yet so very alike one another at the some time, is it not?

Steve

[SOD2 in reply to socrates_8]

It is indeed fascinating. According to my doctor there is not a clear diagnostic category to fit me in but as far as they understand my high platelet count is due to my inherited mutation in mpl. So far I am diagnosed as having essential thrombocythemia with germline mpl mutation. Can you put photos on here? I could show what else they said as it's slightly unclear.

[socrates_8 in reply to SOD2]

Yes, I have seen photos on here... You might ask Maz, the co-ordinator, how it is achieved, as I am not quite certain. I have loaded video links successfully. Hence, if your pics are located in a Drop box or the Cloud it should be possible I imagine...

Or maybe some others here can direct you?

Best

Steve