Chromosome 21 gain is dispensable for transient myeloproliferative disorder driven by a novel GATA1 mutation
Abstrakt
In summary, we describe the first case of tri21-independent GATA1 mutation-positive TMD. In the literature, it has been well established that GATA1 mutations are not capable of initiating TMD on 21-disomic background.
However, unlike typical GATA1 mutations occurring in TMD, the novel GATA1 mutation described here does not result in the expression of the transactivation-deficient physiological isoform, but in the expression of an aberrant isoform, which is predicted not only to lose transactivation potential, but partially also the ability to recognize physiological DNA-binding sites. As such, this GATA1 mutation may impact fetal hematopoiesis to a greater extent compared with typical GATA1 mutations.
It might also be responsible for the AMKL-type immunophenotype and could be capable of triggering TMD/TMD-like condition alone. Alternatively, any of the three other identified mutations, their combinations or possibly all of them may contribute to TMD development.
However, given the current state of knowledge, it is difficult to hypothesize about such contribution more specifically.
