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Profile picture for nohrt4me (Jean) @nohrt4me

The genetic mutation and blood tests are definitive for diagnosis now, so some docs don't do bone marrow biopsies any longer. Others like to have one biopsy done as a baseline against other biopsies they might have to do in the future.

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Replies to "The genetic mutation and blood tests are definitive for diagnosis now, so some docs don't do..."

@nohrt4me I was just reading more about that yesterday, how blood work is becoming sophisticated enough with NGS (next generation sequencing), that test results are on par with a bone marrow biopsy. While it won’t completely replace a bmbx it may reduce the need in certain circumstances, saving time, $$$ and anxiety for a lot of patients. ☺️

Hi @nohrt4me ,
Yes, I definitely should have stopped at just that when I was told I “for sure” had ET by my oncologist/hematologist at that time. After I asked her for a bone marrow biopsy to confirm ET as I have CALR mutation, I was told by that same oncologist/hemotologist that I have primary myelofibrosis instead. Oddly enough, my lab work now looks just as it did before my bone marrow biopsy day and I have no symptoms after 1.5 years which I hope continues, God willing. I did see a MPN specialist recently who did not read my chart before seeing me and wrote that I have JAK2 and CALR mutations which I do not have! I will not be seeing her ever again! I learned that not even MPN specialists are true experts in the huge variety of presentations of unusual lab work with patients like us and some do not read before seeing a new patient!
Hope you are doing well and that you are getting everything in proper order for your proposed heart procedure. Please keep us posted.