Hi everyone,
Lately I find myself wondering where my PV originated. Recently toxic PFAS chemicals were found in our town drinking water. Have chemicals like this - or other environmental factors - been linked to MPNs?
Are any of you familiar with the research?
Per this 2020 article, the jury is still out on PFAS chemicals and their potential for mutagenic potential. ncbi.nlm.nih.gov/pmc/articl... . The short answer is that it may be possible , but that we really just do not know yet.
The question you are asking is one I think we all would like an answer to. The evidence for the JAK2 haplotype that predisposes us to acquiring the JAK2 mutation seems pretty clear. The recent research indicating that the JAK2 mutation is acquired much earlier in life than previously thought is also very important. Hopefully continued research into the root of acquiring the mutation(s) will lead to answers for all of us .
Thanks! As you or others come across research on what causes this JAK2 mutation, I hope you'll post it here.
The question about what causes the JAK2 mutation (ant the others) is one that interests us all. Genetics is quite complex as is the cause of mutations, The JAK2v617f mutation is a base substitution (point mutation), It is a transversion involving Guanine, one of the four nucleobases. You are not born with it, but it appears that you may be born with a predisposition to acquire it. That is why MPNs can appear more frequently in some families.
A brief explanation of basic terms regarding mutations
www2.csudh.edu/nsturm/CHEMX...
Some specific articles of interest.
ncbi.nlm.nih.gov/pmc/articl...
onlinelibrary.wiley.com/doi...
ncbi.nlm.nih.gov/pmc/articl...
cell.com/action/showPdf?pii...
This is just a starting point. There is a good nit of research underway on this topic.
A few years back I uploaded my genetic data to Promethease. I'm a medical librarian and wanted to see how the reports are integrated into SNPedia and Pubmed. The first item listed on the report was that I had a four times higher odds of developing a Jak 2+ MPN. I just put that in the back of my mind, thinking that wouldn't happen to me, like people are prone to do.
I have also uploaded genetic data into Promethease. I am positive for the JAK2 haplotype, as is my daughter. We are both JAK2v627f positive. Like me, she was diagnosed with ET in her 30s. Looks like she is moving towards PV just like I did as well. Interesting note is that my son is JAK2 negative but positive for idiopathic erythrocytosis. My brother was recently treated for a Non-Hodgkin's B-Cell lymphoma. All four of us are positive for the germline NF1:c5425C>T mutations that causes Neurofibromatosis Type 1 as well.
Genetics matter.
I'm sure we all wonder from time to time where the genetic mutations originate. It occurs to me as a complete layman and fellow sufferer, that if it were something in the environment it would be much more prevalent than the one in tens of thousands that it is. Maybe more likely is that something in our make-up makes us more susceptible to this group of diseases. I always feel that I had the problem tens of years before it was diagnosed in my early 60's.
Hi souplover, , there has been a bit of previous discussion on this topic so if you search you might find reference to your question. . Most of my working life I was an office waller but took early release in early 2001. I embarked on a career change doing gardens and odd jobs. I'd always done my own painting and decorating and this soon became my main job. In 2006 I was diagnosed with Idiopathic Primary Myelofibrosis being JAK2 positive. Obviously I wanted to know how I'd got it. I found out that quite a number of people working in or with petrochemicals went on to develop types of blood cancer. Probably no great surprise in that. Highlighted were Benzene Toulene and Trichloroethylene (TCE).
It's one of those where there's nothing traceable in the person to pin down the direct cause but in my own case I do wonder if I hadn't taken early release and soldiered on being a miserable office waller whether I would of avoided my PMF and all that went with it.
Finally there is a history of Leukemia in my family so perhaps the warning signs were there but I didn't heed them.
Regards - Chris
Hi Chris ~ your post definitely got my attention. I was diagnosed with PV 3 years ago and it is progressing now to MF. Some 25 yrs ago I was using a decorative gold leaf paint which had toluene warnings on the jar. I wasn’t careless with the product, but I also didn’t use any protection. Now I certainly have to wonder if that was the genesis of my jak2 mutation. Best ~ Maddie
Well Maddie , , it could of been a contributory factor who knows though there was a fair time lapse and if it was one off the chances of a link i think are slim. But it could be the catalyst. By comparison I was exposed to paint and chemical fumes most of my working days over the few years I did it though much was outdoors. I recall one job where I had to seal a cement floor and though I wore a mask I began to feel dizzy off the fumes though it was fairly well ventilated. So I always think of that as a possible culprit. At the other extreme some guys have painted for 40 or 50 years and lived well into retirement so maybe some of us are more susceptible. I do hope you made a good job of your gold leafing.
Chris
There is leukemia in my family also, which leads me to believe that genetic predisposition played a role in how I acquired the JAK2 mutation.
Hi jmctrek, , After my diagnosis I pointed out that my Grandma and Mums cousin both had Leukemia and my poor Mum passed age 61 from Myeloma however my original Haematologist said it was simply bad luck that I had MF and there was no hereditary element in play. I remain unconvinced. Chris
My sister passed away from leukemia when she was 37yo, and according to my mom, my grandfather died of bone cancer. I’m convinced there is a genetic component to my MPN, and am currently contributing samples to an MPN familial research study based in California.
At one of my early appointments with the haematologist following my ET diagnosis I mentioned that one of my uncles had died of leukaemia aged only 40 and just a few weeks after his diagnosis. The haematologist dismissed this as irrelevant but from what I have been reading and learning about MPNs, mutations, and inflammation since then I too am not so sure. Once I started thinking about the medical histories of various of my relatives I could see that inflammatory processes may have been a factor in most of them (including for mental health issues as well as for physical ones), so perhaps there are genetic factors at work, making some people more prone to the mutation and also to growth of the "malignant clone" once the mutation has happened, leading to a cycle of inflammatory symptoms and further damage ...
My sister died from leukemia complications when she was 37yo, and my grandfather died of bone cancer. It was my astute primary physician who referred me to a hematologist when she noted my platelets at 500k with a family history of leukemia. My brother and I are participating in a familial MPN research study, so I think there is precedence in the theory that there can be a genetic predisposition to MPNs.
I'm sorry to read about your sister! That's terrible.
I don't have a strong family history of cancer, which is why I started to think, where in the world did this come from?
I always believed my sister’s leukemia resulted from her exposure to toxic debris/fumes while helping others on the grounds during 9/11. After I was diagnosed, I started wondering if she also had a genetic predisposition to JAK2 mutation that progressed to leukemia two years after 9/11.
I believe that its suspected environmental issues caused an outbreak in Philadelphia, which I believe was Benzene too
Paul, benzene & toulene has been in the crosshairs a long time however when my wife was diagnosed in the 90's with ET she went to a well known teaching hospital to find the cause and was told they didn't suspect benzene and toulene in her lab!! Homes are now more air tight and are furnished with mostly synthetic fibers in carpets and furniture off-gassing VOCs. containing benzene and toulene. Doing a search on products containing or emitting these chemicals shows the difficulty avoiding them.
toxictorts.com/benzene-myel...
salon.com/2015/06/22/5_toxi...
I lived in Gibraltar for 5 years one of the windows in my flat looked directly on to the largest Benzene plant in Europe. Every time there was an easterly wind you could smell the petrochemical fumes. I have always wondered if there is any sort of MPN cluster in the Campo area.
Sue it will probably be years before it's effects are diagnosed. Read about a tug captain that primarily pushed fuel barges to refuel ships experienced the fumes from the barges ahead of him. Years later he developed an MPN. Probably the most proactive action to take is to detox the liver. As you know the liver filters toxins from the blood and retains them until it flushes them. However, it cannot flush all toxins it doesn't recognise so this "fat lighter" has time to effect the DNA into mutations. Take time to research the liver's functions and ask your doctor for his recommendations.
Thanks, everyone! As PTE82 says, synthetic and often poorly tested chemicals are ubiquitous, in our drinking water, in the plastics we all use.
If you haven't read about PFAS and phthalates, you might want to check them out. While proof is difficult, as Hunter indicated, many studies have shown that both chemicals are possible carcinogens and endocrine disrupters.
It makes sense to me to take a far more precautionary approach and eliminate as many of these suspected carcinogens as possible.
I'd love to hear any other thoughts on the causes of the JAK2 mutation.
I worked for years in a space in which there was a lot of exposed insulation. The one time I questioned the safety, I was shut down by my boss immediately.
But my point is even if we weren't exposed occupationally, we have as a society allowed all kinds of chemicals that are poorly tested or considered innocent until proven guilty (at least in the U.S.).
Here's an article about PFAS chemicals - not as a carcinogen - but rather as an endocrine disrupter:
Yesterdays Living with MPNs day
MPNs and bone marrow biopsy
Sleep Apnea and mpns 
living with MPNs day in London
Anyone had any implants before MPD
