Confused - JAK2 / CALR mutations and triple negative

[Lina_uk]

Hi all

I've seen some suggestions that you can only have one or the other but also that you can have both mutations. Is anyone able to clarify this?

Also if you are triple negative and have no mutations should you push the haemotologist further to rule out any other secondary causes for elevated platelet counts?

If you do have a generic mutation I've read that JAK2 and being aged under 60 means you should be treated with aspirin but I've also read that no treatment and on going monitoring is all that is required especially of there are no other symptoms or history.

All very confusing! Trying to figure out what questions to ask when my genetic test results are communicated next week.

[socrates_8]

Hey there Lina...

Firstly, yes... it can all be quite confusing at least until one gets their head around some of the rudimentary and regularly adopted medical nomenclature/jargon...

It is my understanding, that learning anything about MPN mutations, (that the sky is still the limit), simply because people are only really just beginning to comprehend some of the many variables that can & do apply to people having any type of MPN, (sorry if that statement doesn't help much).

However, and to explain a tad further, the JAK2 mutation was only discovered in 2005; the MPL - c. 2005/2006, and CALR types as late as 2013. Hence, everyone is still learning about what some of these diverse variables might actually mean... Therefore, it is also not uncommon for GPs and some specialists to have never heard of them (MPNs), as late as 2018, in my view...

Hence, we as patients must try to cultivate more patience than we might wish to adopt...

In the past, I was definitely one of those with little or no patience with my medical experts. It was, and still can be extremely frustrating at times...

It is my understanding also, that if one has the JAK2 mutation then they do not normally have the CALR, however, I read somewhere recently that that has now been found to exist also...

It is also entirely possible not to have any of the three (3) most common mutations, (JAK2, MPL & CALR), and still be found to have an MPN through the findings of say a Bone Marrow Biopsy (BMB), and then one might be termed as – Triple Negative.

A BMB can detect whether or not someone has scarring of the bone marrow reticulin, even if no previous mutation has thus far been discovered.

It is my unqualified (layperson's) opinion that they will continue to discover more and more mutations as the years roll past, and that there is still so much more to glean about the many variables and mutations of having an MPN.

Hope this helps a little...

Steve

(Sydney)