Fantastic case at #ESHBMFD2020: Pt with hemolytic anemia, FLAER+, concomitant ET and nephrotic syndr but negative PIGAm. Exome seq= PIGV mutation with CN-LOH, along with MPLm (also on chr 1). Nephrotic syndrome is due to excess free uPAR, which is normally GPI-linked on plts.

BMT causes clonal hematopoiesis, and it seems like pts who have post-BMT CH have specific gene signatures as reported by Dr Beiderbos at #ESHBMFD2020. Next question to answer is how does CH impact the health of long-term survivals after BMT?

Catching up on fantastic sessions of #ESHBMFD2020. Yigal Dror discussing the treatment of ribosomopathies. Androgens and G-CSF have been around for a while, BMT outcomes might be better without TBI. Exciting new therapies include ataluren and TGF-B inhibitors. #SDS #DBA

A nice model of leukemogenesis in Fanconi anemia: Evi1 overexpression in Fanca-/- mice leads to AML with complex karyotypic abnormalities. #ESHBMFD2020 by Susanne Lux.