And so the plot thickens and I'm feeling more and more uneasy with everything.
Back in November my bone marrow biopsy yielded changes that sparked concern. There was a change in my karyotype involving a 7q deletion being one of them. Because of the changes and how I presented at diagnosis (my post in November gives details), my multiple myeloma specialist recommended we repeat the bone marrow biopsy and ordered a rapid heme panel assay.
Well, the results are in, and it came back showing two pathogenic variants:
DNMT3A mutation in 19% of 668 cells read
CREPPB mutation in 52 % of 62 cells read
These findings further concerned my multiple myeloma specialist, prompting a presentation of my case a last week's tumor board. From the meeting it was concluded that these mutations did not play a role in my presentation at diagnosis, and that the dysplasia, transfusion dependency, and development of pure red blood cell aplasia at diagnosis were all driven from the myeloma.
He now has us scheduled to see an myelodysplastic syndromes (MDS) / leukemia specialist in a couple of weeks to go over these findings and discuss how they will impact things moving forward. Concern really seeming to be centered around the DNMT3A mutation, which he explains is found with acute myeloid leukemia (AML), MDS, and other myeloproliferative neoplasms. The CREPPB mutation, he explains, is a rare mutation, and much less is known about it at this time.
So I guess my question is what to expect given these developments, and also what sort of questions I should be asking at upcoming appointments. Any input is greatly appreciated.
I feel as if I am about to embark on a hike up Mount Everest and have forgotten my trail map and crampons
.Thanks for listening,
Hykergirl
