Question about mutations

[kentuckyrain]

Hi everyone, Just checking some info to see if i am correct. My daughter has ET, she is now seven years old she was diagnosed at four. She is JAK2 positive, does this mean she cant have the CALR mutation? I know you can have neither as well, but is it true if you have one you cant have the other?

Also, i have just heard of the MPL mutation? is this new, whats this?

[Paul42]

Hi

This was asked at the recent Manchester forum. The response was, no people dont have both.

I dont think there was any real reason given, other than no one has been discovered with both. I think the fact that each mutation is so rare, that for one person to have both the odds would be massive.

Paul

[Mazcd Partner MPNVoice]

Hi Kentuckyrain, I have passed your question through to Prof Harrison at Guy's and St Thomas' Hospital and she has said: It's very unusual to have both JAK and CALR mutations. The MPL mutation (there are several) was described in 2006. I hope this information helps, kind regards, Maz.

[kentuckyrain in reply to Mazcd]

Hi Maz, thanks a mil for that its really appreciated. x

[KrisRAREone74 in reply to Mazcd]

Any info on just having MPL genetic mutation? I just found out 11/4/16. No diagnosis yet, bone marrow biopsy results in a week. Completely overwhelming and I have been down the RARE rabbit hole. What's even more scary than the gene mutation is the being overlooked or passed off or missing something because it's RARE. I am probably an Useful for research to any Dr. That specializes and does research in it. Most definitely a challenge... the onco scratched his head, looked down and said " that's rare" " we need to do a bone marrow biopsy " results Friday but that wasn't comforting and most definitely know I should be seeing a Dr. That specializes in this area. I certainly seem to be an interesting case. So- hey feel free to contact me or reply. If anyone has this same mutation and could shed light or lend support, advice... etc please do.

[Mazcd Partner MPNVoice in reply to KrisRAREone74]

Hi Kris, I have asked Prof Harrison for you and she has said:

Usually associated with a diagnosis of ET or MF, a biopsy and expert review is advised. Treatment would vary from aspirin to MF related treatment.

Of course you will have to discuss this with your haematologist once they have the results of the bone marrow biopsy. I hope they can give you an answer as it is very worrying when you are waiting to know exactly what you have and how it will be treated. Let us know what happens.

Best wishes, Maz

[KrisRAREone74 in reply to Mazcd]

Mazcd

Thank you for the reply. I can't say that I am shocked by today because it's never just simple. 😂 The pathologist is baffled and surprised. Due to the lack of morphological findings a definitive diagnosis can't be made. Told it's most likely pre myelofibrosis. I knew when i found about this mutation and started research that I really need to be in the hands of one of the Dr's that specializes in MPN's and put it in their hands. Although it's rare and a nuisance on my life. At least I know it's there and what it does.. which is better than not knowing in my opinion. Now it's up to me to get to the appropriate specialist and take it one day at a time. Things will happen as they are supposed to. I am in good spirits and not a quitter. I will keep you posted as to my updates. I am thankful for this forum and although no one has this mutation. I don't feel so alone and I appreciate the support.

Thank you 😊

Kris

[sherri1111 in reply to KrisRAREone74]

I have the MPL mutation which stands for myleoproliferative leukemia...Which is kind of intimidating ...Also a non classic version of PDGFR mutation. If you happen to find info about MPL please pass it on to me. This mutation is only present in less than 5% of MPN patients . Btw I have ET.