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Real members of myMPNteam have posted questions and answers that support our community guidelines, and should not be taken as medical advice. Looking for the latest medically reviewed content by doctors and experts? Visit our resource section.

For People With MPL Mutation, Which Mutation Do You Have? My Mutation Is MPL R102C.

A myMPNteam Member asked a question 💭
Sverige

I was just curious to see whether people get tested for a broader range of MPL mutations. Mine is a non-canonical loss-of-function mutation and I wonder if there is someone else out there with a similar mutation. There are many MPL pathogenic mutations, some canonical, some non-canonical
For hereditary ET, germline mutations can be: MPL K39N; MPL R102C, MPL R102P, MPL R106L, MPL R120W, MPL R170H, MPL V501A, MPL S505N and MPL W515R
https://onlinelibrary.wiley.com/doi/full/10.111...
https://ashp… read more

https://onlinelibrary.wiley.com/doi/full/10.1111/bjh.17741
https://onlinelibrary.wiley.com/doi/full/10.1111/bjh.17741
Whole-exome sequencing identifies novel MPL and JAK2 mutations in triple-negative myeloproliferative neoplasms - PubMed
Whole-exome sequencing identifies novel MPL and JAK2 mutations in triple-negative myeloproliferative neoplasms - PubMed
https://pubmed.ncbi.nlm.nih.gov/26423830/
https://ashpublications.org/blood/article/142/Supplement
https://ashpublications.org/blood/article/142/Supplement
MPL mutations in essential thrombocythemia uncover a common path of activation with eltrombopag dependent on W491 - PubMed
MPL mutations in essential thrombocythemia uncover a common path of activation with eltrombopag dependent on W491 - PubMed
https://pubmed.ncbi.nlm.nih.gov/31978223/
April 12
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A myMPNteam Member

I was told initially that I have MPL positive ET, no clear details, then I realised my dad most likely had ET and had post-ET myelofibrosis, so I asked my hematologist to send me the genetic report. In the end, it turns out not only that I have MPL mutation, but that it is non-canonical, loss-of-function and hereditary. This is quite different from canonical gain-of-function MPL mutation.
If you have a good relationship with your specialist doctor and you are interested in knowing your exact mutation, you can always ask for the full report. It is your right to have it anyway. Imagine if you need to see a new specialist for whom this information matters. It can also inform treatment and risks.

April 12
A myMPNteam Member

Great idea! Thank you so much!

April 13
A myMPNteam Member

I too have the MPL driver. I was only told my bloodwork showed I was JAK2 and CALR negative, and MPL positive.

April 12
A myMPNteam Member

ET with MPL here too

May 22 (edited)

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