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Anyone With Familial MPN? My 27 Y/o Was Just Diagnosed With ET Nearly One Year After Me, 52 Y/o.
Familial MPNs are a known issue. There is ongoing research into this issue. It is relevant to my family as both my daughter and I have the JAK2 mutation. I was diagnosed with ET that later progressed to PV. My daughter is currently diagnosed with ET but looks like she may be progressing to PV. My son is JAK2 negative but is presenting with idiopathic erythrocytosis. We are participating in the Fleischman lab Familial MPN Study. We were approached by Johns Hopkins for another familial MPN study that we will participate in as well.
One of the theories about familial MPNs is that there is an inheritable predisposition to acquiring the JAK2 mutation, the JAK2 46/1 (GGCC) MPN-predisposing haplotype. Here is a bit about what is known about familial MPNs. \
https://onlinelibrary.wiley.com/doi/10.1002/ajh...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC30...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC32...
One of the more interesting findings is that it appears that the JAK2 mutation is acquired early in life. It can take decades, however, for the MPN to manifest. The trigger for the disease to manifest is not understood.
https://www.biorxiv.org/content/10.1101/2020.11...
https://www.healio.com/news/hematology-oncology...
https://www.nature.com/articles/s41586-021-04312-6
It helps to understand the basics of genetics, including what the different types of mutations that can occur. The JAK2 mutation is a JAK2 point mutation at codon 617 (JAK2v617f) which results from a G -->T transversion at nucleotide 1849 in exon 14 of the JAK2 gene. This is a missense mutation that causes an alteration in the JAK2 protein that leads to deregulation of the JAK-STAT pathway.
There is some good information about the JAK2 mutation in this webinar.
https://www.youtube.com/watch?v=K5ZXdIwJws0
Wishing you all the best on your journey.
Familial MPNs are a known issue. There is ongoing research into this issue. It is relevant to my family as both my daughter and I have the JAK2 mutation. I was diagnosed with ET that later progressed to PV. My daughter is currently diagnosed with ET but looks like she may be progressing to PV. My son is JAK2 negative but is presenting with idiopathic erythrocytosis. We are participating in the Fleischman lab Familial MPN Study. We were approached by Johns Hopkins for another familial MPN study that we will participate in as well.
One of the theories about familial MPNs is that there is an inheritable predisposition to acquiring the JAK2 mutation, the JAK2 46/1 (GGCC) MPN-predisposing haplotype. Here is a bit about what is known about familial MPNs. \
https://onlinelibrary.wiley.com/doi/10.1002/ajh...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC30...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC32...
One of the mor interesting findings is that it appears that the JAK2 mutation is acquired early in life. It can take decades, however, for the MPN to manifest. The trigger for the disease to manifest is not understood.
https://www.biorxiv.org/content/10.1101/2020.11...
https://www.healio.com/news/hematology-oncology...
https://www.nature.com/articles/s41586-021-04312-6
It helps to understand the basics of genetics, including what the different types of mutations that can occur. The JAK2 mutation is a JAK2 point mutation at codon 617 (JAK2v617f) which results from a G -->T transversion at nucleotide 1849 in exon 14 of the JAK2 gene. This is a missense mutation that causes an alteration in the JAK2 protein that leads to deregulation of the JAK-STAT pathway.
There is some good information about the JAK2 mutation in this webinar.
https://www.youtube.com/watch?v=K5ZXdIwJws0
Wishing you all the best on your journey.
My 26 year old son has terrible migraines almost 3 times a week and itchy after a shower so I am suspicious and concerned I will take him to get blood tests and will ask my hematologist when I go in next week!
Last time I enquired they said PV was acquired not genetic but I do worry about him so now I will take action 🤗
Here's another source to consider. It's a 2017 scholarly article that discusses familial cases of MPNs (genetic predisposition. The authors say this: “In our experience, about 7% to 8% of patients with an apparently sporadic MPN belong to familial trees with at least 2 cases of MPN: these represent familial MPNs, in which the somatic mutation in the MPN driver gene has likely been acquired as a result of genetic predisposition. [] Although this predisposition has been molecularly defined only in few families so far [], identifying familial cases of MPNs may allow early diagnosis of these myeloid malignancies in other individuals.” The full article is at https://ashpublications.org/blood/article/129/6...
Best of luck!
My ET is inherited. I have a non-canonical MPL mutation I most likely inherited from my father who most likely inherited it from his mother. This is what the genetic test showed in my case, that it is inherited.
Regarding JAK2 mutations, given that they are present in ~3% of general population and that it seems like another mutation is needed for MPNs to manifest, it does not seem that it would be so rare that MPNs manifest in families.
Dear Jutka, your son is lucky to have a parent who is aware of MPNs and who will do everything to make sure he is correctly diagnosed.
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