MPL mutation

[SRH55]

Hi,

My question is similar to another recent post. Apparently I have an MPL mutation 30.2% and NSH2B3 27.7%. Do any of you know what this means? I have ET, likely progressing to Post ET Myelofibrosis.

Thanks,

Shirley

[Aneliv9]

I know that MPL mutation is more relative to pre-PMF than ET. Did you have your diagnosis based on a bone marrow biopsy, or just through blood counts?

[SRH55 in reply to Aneliv9]

This was from blood tests, I have had a bone marrow biopsy, I am waiting for the results.

[Aneliv9 in reply to SRH55]

BMB is critical for distinction between ET and pre-PMF. So chances are that you always had pre-PMF and not ET

[SRH55 in reply to Aneliv9]

I did have a bmb in 2009, which confirmed ET.

[Aneliv9 in reply to SRH55]

Ok. But in older cases i think the diagnostic criteria for the distinction were not firm enough. But your doctor knows best

[EPguy]

Has your Dr discussed the NSH2B3 result? I can't find any info on this mutation; at least it seems rare. There is a NS2B but that one doesn't seem to be connected to blood diseases.

[SRH55 in reply to EPguy]

No not yet, I will ask at my next appointment, I couldn’t find any info either.

[EPguy in reply to SRH55]

I had an "abnormal karyotype" which is usually not good. But it said not associated with any known hematological conditions. Your allele might be similar.

[SRH55 in reply to EPguy]

Yes, could be, I’ll see what my haematologist says next time & hope it’s nothing to be concerned about.

[ciye]

I have et/mpl, was concerned about this Heamo said bmb showed pre,pre,pre,pre pmf her words I don't know whether to be concerned or not.

[SRH55 in reply to ciye]

I think you should ask for a bit more information on what exactly ‘pre, pre, pre, pre’, means. I can understand your concerns. Good luck.

[ciye in reply to SRH55]

I won't have to worry for years apparently, waiting on appointment with Professor Harrison so hopefully she will have answers

[SoledadBarcelona]

This is very strange for me. What is rhe MPL mutation? You need to know the name if your genes. How is your doctor? Maybe you need an expert in MPN.

[EPguy in reply to SoledadBarcelona]

MPL is one of three primary mutations with ET. The other two are Jak2 and CALR. MPL is the least common, and most often they are not combined. There is also a triple negative ET with none of these three.

[Sprat19]

HiI also have the MPL mutation . And diagnosed with ET 12 years ago. I have had 2 BMB the most recent one about a year ago and apparently the results are consistent with ET. I am on peg interferon. And have been for 6 months. Now age almost 62 .I see a MPN specialist. Moved haematologist a year ago as wasn’t happy with blanket HU from our local haematologist

[JeniMac in reply to Sprat19]

This is a mirror image of me changed haemotoligist about 10 months ago just had dx changed from ET to Pre MF. I am starting Peg on 3rd of October at present on Anagralide can I ask how your getting on with Peg. Hope your well

[SRH55 in reply to JeniMac]

I’ve been ok on Peg, except when I first started on it in 2016, when I was changing from Hu to Peg & my dose was too high. It was soon put right. My dose was always low, but I’ve been advised not to take any until my appointment at the end of Sept (which will be about 6 weeks). I am going to be out on Rux at my next appointment.I hope you get on ok with Peg, I don’t know how you feel about injections, but I think the thought of it is worse than the jab. Good luck let me know how you get on.

Shirley

[JeniMac in reply to SRH55]

I don't mind injections. I hate feeling ill as does everyone just not sure what to expect. When I had to sign my agreement form some of the side effects sounded horrendous xx

[SRH55 in reply to JeniMac]

I know what you mean, I didn’t get any side effects at all. I did my first injection late evening & took 2 paracetamol, as recommended. After the first couple of times I took no paracetamol & felt fine (although I would have been asleep). I know looking at the side effects can be daunting & they have to warn you. Good luck.

[EPguy in reply to JeniMac]

If you've had surgery, the documents they make you sign, at least in the US, leads to the conclusion you'll come out as Frankenstein's monster.

I totally agree the list of possible bad outcomes is off-putting, but as with all therapies we do/take, the benefits are known to substantially outweigh the risks. (on average).

[william-Indo in reply to SRH55]

Hai Shirley,

Apakah Anda mengambil Rux dan Peg bersama-sama ...?

Saya meminum kedua obat ini sejak Juli 2022 karena Rux sendiri tidak dapat mengontrol darah saya.

Saya PV dengan Grade 1

[Sprat19 in reply to JeniMac]

sorry about the delay. peg has on the whole been fine. I don’t get the flu like effects on the day I take it but do take it in the evening. Largely I haven’t noticed anything. Occasionally tired but could be life. Occasionally a bit itchy but I swim in rivers so could be life. My white cell count dropped a bit so my dose was reduced. So only take it every 10 days. I don’t find doing the injections an issue though was nervous the first time. . So all in all happy with it so far

[JeniMac in reply to Sprat19]

That's great im hoping I don't get side effects although I would like to loose some weight so not feeling hungry I will take. Sounds like you have it sorted. Keep going

[Doggy1903]

I am certainly not expert in the mutations but I too have an mpl driver.As far as i know this is not thought to be familial, but a mis copy if you like of our genetic coding an exon 505 or 515.

if you google up mpl , it can certainly look rather technical but helpful to get an idea of what is afoot.

I am treated with Hydroycarbimide, how about yourself?

Keep well and please let me know how you are .

Kind regards.

😀

[SRH55 in reply to Doggy1903]

I have been on Pegasys since 2016, but this has been suspended until the end of September, when I have my next appointment.

Some of the information is very technical & sometimes a bit hard to understand! I will ask the question when I have my next appointment.