HOW MANY OF US KNEW WE HAD SOMETHING ELSE GOING ON A LONG TIME BEFORE DIAGNOSIS?

[MPN-MATE Admin]

Morning All...

I saw this study come through recently and realised that this might be some of the first documented analysis that proves how long many of us went on with our lives before actually knowing that something was terribly wrong...

This is good news all the same, because we can now point to studies & Papers like this one to our GPs, and our Specialists and between us all working toward the same goals, perhaps diagnosis, and therefore treatment regimes might also be able to be dealt with earlier, and hopefully that translates to a more enjoyable Quality of Life...

Here is the Summary, and the Reference is below with a Link to the Full PDF Paper for anyone wishing to read the whole thing.

best wishes all, stay safe & well...

Steve


SUMMARY

Some cancers originate from a single mutation event in a single cell. Blood cancers known as myeloproliferative neoplasms (MPNs) are thought to originate when a driver mutation is acquired by a hematopoietic stem cell (HSC). However, when the mutation first occurs in individuals and how it affects the behavior of HSCs in their native context is not known. Here we quantified the effect of the JAK2-V617F mutation on the selfrenewal and differentiation dynamics of HSCs in treatment-naive individuals with MPNs and reconstructed lineage histories of individual HSCs using somatic mutation patterns. We found that JAK2-V617F mutations occurred in a single HSC several decades before MPN diagnosis—at age 9 ± 2 years in a 34-year-old individual and at age 19 ± 3 years in a 63-year-old individual—and found that mutant HSCs have a selective advantage in both individuals. These results highlight the potential of harnessing somatic mutations to reconstruct
cancer lineages.

REFERENCE

Debra Van Egeren et al. 2021. "Reconstructing the Lineage Histories and Differentiation Trajectories of Individual Cancer Cells in Myeloproliferative Neoplasms".
https://www.cell.com/action/showPdf?pii ... %2900051-5

[SilverET]

Hi Steve,

I was diagnosed at 17 as you know. I often think that I would not have been diagnosed at all until very recently (age 50) as I have had very few symptoms that would have led to investigation even though my platelets were in the millions. My MPN was found because I worked in a lab for work experience as a teenager and ran my blood as a control. This is the only reason I was diagnosed so early in life and I often think there may be many others who have the mutation for ages before it becomes an issue and causes symptoms. This could be the reason many MPN's are said to occur more commonly in people who are in their 50's and 60's. This may just be when enough symptoms occur to warrant proper testing. Interesting paper.

Thanks,
SilverET

[MPN-MATE Admin]

Hey Natasha...

Please accept my most sincere apologies...

Between organising this event, and taking care of my dear old mother... I have barely had a moment to myself...

I have absolutely no doubt, that in my own case, I should of and could have been diagnosed much earlier, had GPs themselves been keen enough to see that something was afoot etc.

Apparently, there are records of my very high Platelets that go back to early 2001, and had I been diagnosed then, I might have been able to stabilise my MPN condition much earlier, and that in turn might have impeded the Bone Marrow Fibrosis that ultimately resulted as a consequence of a lack of being treated... Yes, I am speculating, however, one will never really know now will one... (?)

Hopefully, making more people and the medical fraternity AWARE of MPNs, might help those who come after us etc... Such is my hope in any event...

Best wishes, stay safe & well...

Steve

PS. Please scroll down to see the latest MPN RIDE Update - We're finally almost on our way... Yay!!!

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