JAK2 ASXL1 Mutations: Anyone else?
My husband was diagnosed June 2019, he had been hospitalized in 2017 and went into septic shock only to realize he had a hole in his colon. The Dr said this was most likely a blood clot and they said ischemic colitis. They feel he had the ET at that time. He was diagnosed with ET as his platelets were high and he had a JAK2 v617f mutation. The oncologist immediately started him on hydroxyurea and aspirin. In Dec 2019 he had a BMB not really sure about the results of that, but he started phlebotomy every week at that point. I asked about PV but the oncologist said all MPN’s are the same.
He did the phlebotomy for about two months once a week and then gradually went every other week and then once a month. When COVID started his oncologist didn’t see him in the office he had phone appointments. How can they check his spleen and liver over the phone. He also has non alcoholic fatty liver disease. April was the last phlebotomy appt as his hct was under 45. We have since moved to Arizona and he now goes to Mayo Clinic. The oncologist has performed a new BMB and has several new results. A JAK2 exon 12-15 mutation and an ASXL1 mutation. Several other results that we were never given before, we have a portal that we can see all results. My question is this. Does anyone know what the ASXL1 mutation means and do you have that as well. With COVID I can no longer accompany him in his appointment and I have a million questions for the oncologist. Thanks for any info you can share