Dual Mutation

[Garandel]

Hi, has anyone been diagnosed with ET dual mutation of JAK2 & MPL? Hubby has just had his second BMB and they've spotted both mutations.

[hunter5582]

Having dual MPN driver mutations is very rare, but it does occur. It used to be thought that the driver mutations were mutually exclusive, but this does not appear to be so. Here are a few references.

ashpublications.org/blood/a...

frontiersin.org/articles/10...

tandfonline.com/doi/abs/10....

tandfonline.com/doi/abs/10....

jmdjournal.org/article/S152...

There has been more awareness of the presence of cooccurring non-driver mutations and the impact these can have. I do have one of those (NF1). This increasing my risk of leukemic progression.

Please do let us know what you learn about having both JAK2 and MPL. We can all benefit from what you learn.

All the best to you both.

[Garandel in reply to hunter5582]

Hi, thank you so much for the reply, I'll check out your links.

The consultant had not come across it before and was therefore going to discuss it at panel level. My husband is very symptomatic and we are wondering if this is the reason why!

We will keep you updated when we find out more in a few weeks time hopefully!

Kindest regards

[cmc_ufl]

Yes, having two driver mutations does happen. This is exceedingly rare. My MPN specialist says that in all his years, he has only seen it once: a JAK2/CALR+ individual. There is little-to-no information regarding its impact on disease course, prognosis, etc. Please keep us updated on his condition.

[Garandel in reply to cmc_ufl]

Thank you, I will do.

[Nettie22]

Hi I have PV, with JAK2 , MPL and DMNT3A mutations and was told I'm very rare. I like being different or as my other half says awkard.

Nettie x