I'm hoping to establish contact with others having this somatic mutation and their carers. If anybody falls into that category, would they please join the FaceBook Group with this title.
Welcome Eric,
I understand from your blog that you have a recently been diagnosed with a rather complicated/rare presentation of a myeloproliferative neoplasm/myelodysplasia. You might find the following citation from
Blood Cancer Journal (2011) 1, e29; doi:10.1038/bcj.2011.29 Published online 22 July 2011
of some help. I hope so.
"Aberrant activation of Janus kinase 2 (JAK2) caused by somatic mutation of JAK2 (JAK2V617F) or the thrombopoietin receptor (MPLW515L) plays an essential role in the pathogenesis of myeloproliferative neoplasms (MPNs), suggesting that inhibition of aberrant JAK2 activation would have a therapeutic benefit.
Our novel JAK2 inhibitor, NS-018, was highly active against JAK2 with a 50% inhibition (IC50) of <1 nm, and had 30–50-fold greater selectivity for JAK2 over other JAK-family kinases, such as JAK1, JAK3 and tyrosine kinase 2...
........Overall, our results suggest that NS-018 will be effective in treating patients with MPNs. The efficacy and safety of NS-018 for MPNs is expected to be verified by early-phase clinical trials to begin in early 2011."
http://www.nature.com/bcj/journal/v1/n7/full/bcj201129a.html
I also understand that for primary (or primitive) myelofibrosis (PMF) there is a targetted therapy that is, or about to be, in clinical trial. I am not sure if your doctors have yet managed to give you a definitive diagnosis but nevertheless, I suggest you do all the research you can re: kinase inhibitors in development for MPN.
The research team at Guy's is the lead in this area.
Best wishes,
Sandy