Chromosome 21 gain is dispensable for transient myeloproliferative disorder driven by a novel GATA1 mutation

Transient myeloproliferative disease (TMD) represents a complex disorder of fetal hematopoiesis including dyserythropoiesisand clonal proliferation of immature megakaryoblaststhat manifests in ~10% of newborns with Downsyndrome. Its clinical course ranges from asymptomatic/mild, with no need of treatment, to life-threatening, whenmultiple organs are affected and urgent intervention isneeded. However, the disease typically remits even withouttreatment upon the switch to adult-type hematopoiesisduring the first months of life. Nevertheless, there is a highrisk of progression into acute megakaryocytic leukemia(AMKL) during early childhood.

Lukeš J., Danek P., Alejo-Valle O., Potůčková E., Gahura O., Heckl D., Starková J., Starý J., Mejstříková E., Alberich-Jorda M., Zuna J., Trka J., Klusmann J.-H., Zaliová M. 2020: Chromosome 21 gain is dispensable for transient myeloproliferative disorder driven by a novel GATA1 mutation. Leukemia (in press). [IF= 9.944] DOI: 10.1038/s41375-020-0769-1