LABORATORY RESEARCH Heritable GATA2 Mutations Associated with Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia Scientists report the discovery of GATA2 as a new myelodysplastic syndrome-acute myeloid leukemia predisposition gene. [Nat Genet] Abstract | Press Release Mutations in GATA2 Cause Primary Lymphedema Associated with a Predisposition to Acute Myeloid Leukemia (Emberger Syndrome) Researchers report an allelic series of eight mutations in GATA2 underlying Emberger syndrome, an autosomal dominant primary lymphedema associated with a predisposition to acute myeloid leukemia. [Nat Genet] Abstract AKT/FOXO Signaling Enforces Reversible Differentiation Blockade in Myeloid Leukemias AKT activation is associated with many malignancies, where AKT acts, in part, by inhibiting FOXO tumor suppressors. Investigators show a converse role for AKT/FOXOs in acute myeloid leukemia. [Cell] Abstract p57Kip2 and p27Kip1 Cooperate to Maintain Hematopoietic Stem Cell Quiescence through Interactions with Heat Shock Cognate Protein 70 In this study, investigators report that cell cycle entry proceeded normally in hematopoietic stem cells null for cyclin-dependent kinase inhibitor p57 due to compensatory upregulation of p27. [Cell Stem Cell] Abstract p57 Is Required for Quiescence and Maintenance of Adult Hematopoietic Stem Cells Results suggest that, among Cip/Kip family cyclin-dependent kinase inhibitors, p57 plays a predominant role in the quiescence and maintenance of adult hematopoietic stem cells. [Cell Stem Cell] Abstract Cooperation Between Both Wnt/β-Catenin and PTEN/PI3K/Akt Signaling Promotes Primitive Hematopoietic Stem Cell Self-Renewal and Expansion Using a hematopoietic stem and progenitor cell-specific conditional induction line, researchers generated a compound genetic model bearing both Pten deletion and β-catenin activation. [Genes Dev] Abstract Site-Specific Gene Correction of a Point Mutation in Human iPS Cells Derived from an Adult Patient with Sickle Cell Disease Here scientists report a homologous recombination based approach to precisely correct the sickle cell disease mutation in patient-derived induced pluripotent stem cell (iPSC) with two mutated beta-globin alleles. [Blood] Abstract CLINICAL RESEARCH A Two-Step Approach to Myeloablative Haploidentical Stem Cell Transplantation: A Phase I/II Trial Performed with Optimized T-Cell Dosing Investigators developed a 2 step myeloablative approach to haploidentical hematopoietic stem cell transplantation (HSCT) in which 27 patients conditioned with total body irradiation were given a fixed dose of donor T cells (HSCT step 1), followed by cyclophosphamide (CY) for T cell tolerization. A CD34 selected HSC product (HSCT step 2) was infused after CY. [Blood] Abstract | Press Release Gene Mutation Patterns and Their Prognostic Impact in a Cohort of 1,185 Patients with Acute Myeloid Leukemia To evaluate the prognostic value of genetic mutations for acute myeloid leukemia (AML) patients, researchers examined the gene status for both fusion products such as AML1 (CBFα)-ETO, CBFβ-MYH11, PML-RARα and MLL rearrangement as a result of chromosomal translocations and mutations in genes including FLT3, C-KIT, N-RAS, NPM1, CEBPA, WT1, ASXL1, DNMT3A, MLL, IDH1, IDH2 and TET2 in 1,185 AML patients. [Blood] Abstract Azacitidine for Treatment of Imminent Relapse in MDS or AML Patients After Allogeneic HSCT: Results of the RELAZA Trial This study evaluated azacitidine as treatment of minimal residual disease determined by a sensitive donor chimerism analysis of CD34+ blood cells to pre-empt relapse in patients with CD34+ myelodysplastic syndromes (MDS) or acute myeloid leukemia (AML) after allogeneic hematopoietic stem cell transplantation (HSCT). [Leukemia] Abstract |