Article
Identification of acquired mutations by whole-genome sequencing in GATA-2 deficiency evolving into myelodysplasia and acute leukemia.
Annals of hematology - 1 Sept 2014
Fujiwara Tohru, Fukuhara Noriko, Funayama Ryo, Nariai Naoki, Kamata Mayumi, Nagashima Takeshi, Kojima Kaname, Onishi Yasushi, Sasahara Yoji, Ishizawa Kenichi, Nagasaki Masao, Nakayama Keiko, Harigae Hideo
Abstract excerpt
Heterozygous GATA-2 germline mutations are associated with overlapping clinical manifestations termed GATA-2 deficiency, characterized by immunodeficiency and predisposition to myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). However, there is considerable clinical heterogeneity among patients, and the molecular basis for the evolution of immunodeficiency into MDS/AML remains unknown. Thus, we...
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