Mutation?

[sherri1111]

I tested positive for the MPL mutation. Also a non classic version of PDGFR. Would like to connect with others that are positive for either of these mutations. Or anyone that can provide info about these. Thank you in advance.

[mhos61]

Hi Sherri1111,

I'm sorry I can't help you with your question but I really hope someone else can. I suspect you are in the minority with this mutation.

These mutations aren't the easiest thing to comprehend. Have you tried researching yourself? Maybe you could type something along the lines 'significance of PDGFR in the MPL mutation.' However, be wary and choose only reputable and up to date sites.....just an idea!

Also, Maz (the administrator) may have information that she can send you.

Mary x

[sherri1111 in reply to mhos61]

Thank you for responding Mary. Yes I am very much in the minority with less than 5% having the MPL mutation. And even less having the secondary PDGFR mutation. I have tried to research both of them. Finally found an informative video on Patient Power earlier on MPL,But still not much on PDGFR. Thanks again. And best wishes on your mom journey!

[sherri1111 in reply to mhos61]

MPN not mom lol

[mjfin72]

Hi Sherri. I also have the mpl gene. Was diagnosed with Et in September. My platelets hover around 800/900 tho have been higher for a short time in March. I'm just on aspirin. When I asked my consultant about the significance of the mpl gene as opposed to being jak + he said it was just another variation of gene mutation and would be treated the same way.

Hope you are keeping well and this is a fantastic forum for help and advice x

Mandy

[sherri1111 in reply to mjfin72]

Hi Mandy, finally someone else with MPL. I actually found an informative video earlier on Patient Power concerning MPL. But still nothing on PDGFR.

I was diagnosed in February with ET. Put on low dose aspirin. Bmb confirmed diagnosis . Platelets ran close to 1 mil at every blood draw. Started on HU about a month ago. And platelets now down to 693,000. YIPPY!! Other labs are almost all normal now except for MCHC is slightly low and RDW is slightly high. But that's to be expected from chemotherapy. I feel much better. Not nearly as fatigued!! I'm 55 and with a lot of family history of coronary artery disease and hypertension diagnosed same time as ET, my doctor considers me high risk. Ergo the hu therapy... I consider Pegasus but after much research I went with hu. I'm on 500mg. Daily with zero adverse side effects . Best wishes for you on your MPN journey!

[cavery in reply to mjfin72]

Hello Sherri and Mandy. I too have the MPL gene mutation. I'm 43 and was diagnosed in June 16. My platelet count is around 1450 and I'm on aspirin just now. Similar to Mandy, my consultant advised that in his experience the symptoms and treatment plan is the same for each of the gene mutations. All the very best to you both. Caroline

[Mazcd Partner MPNVoice]

I'll see what I can find for you. Maz

[sherri1111 in reply to Mazcd]

Thanks Maz!!

[Mazcd Partner MPNVoice in reply to sherri1111]

hi Sherri, sorry I have asked the medical team for any info they have about PDGFR but I'm afraid they don't have anything, they said it is very rare, we have this info about MPL on our website:

This is a protein which is the receptor or docking station for the platelet hormone thrombopoietin. The MPL gene can be mutated in patients with ET or MF. This was discovered in 2006.

Sorry that we don't have anything else. Maz

[sherri1111 in reply to Mazcd]

Go figure lol. I'd have the 2 rarest of all the mutations...Thank you though!!

[Mazcd Partner MPNVoice in reply to sherri1111]

Well it just makes you extra special. x x x