Article
Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.
Blood cancer journal - 15 Jul 2025
Kotmayer Lili, Kozyra Emilia J, Kang Guolian, Strahm Brigitte, Yoshimi Ayami, Sahoo Sushree S, Pastor Victor B, Attardi Enrico, Voss Rebecca, Vinci Luca, Kaiser Max, Dworzak Michael N, De Moerloose Barbara, Sukova Martina, Starý Jan, Hasle Henrik, Jahnukainen Kirsi, Polychronopoulou Sophia, Kállay Krisztián, Smith Owen P, Malone Andrea, Barzilai Birenboim Shlomit, Masetti Riccardo, Buechner Jochen, Ussowicz Marek, Kjöllerström Paula, Bodova Ivana, Kavcic Marko, Català Albert, Turkiewicz Dominik, Schmugge Markus, de Haas Valerie, Okhomina Victoria I, Sotomayor Cristian, Catalán Paula, Wehr Claudia, Salzer Ulrich, Germing Ulrich, Gattermann Norbert, Bödör Csaba, Gray Nathan, Lewis Sara, Shimamura Akiko, Giorgetti Alessandra, Erlacher Miriam, Niemeyer Charlotte M, Wlodarski Marcin W
Abstract excerpt
GATA2 deficiency is an autosomal dominant transcriptopathy disorder with high risk for myelodysplastic syndrome (MDS). To elucidate genotype-phenotype associations and identify new genetic risk factors for MDS, we analyzed 218 individuals with germline heterozygous GATA2 variants. We observed striking age-dependent incidence patterns in GATA2-related MDS (GATA2-MDS), with MDS being absent in infants, rare before...
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