title: Gene mutations in bone marrow failure syndromes.
abstract: Acquired bone marrow failure syndromes consist of aplastic anemia, paroxysmal nocturnal hemoglobinuria (PNH), and myelodysplastic syndromes (MDS). Clonal hematopoiesis is frequently observed in non-neoplastic disorders, aplastic anemia and PNH as well as a neoplastic phenotype, MDS. However, the significance of such clonal hematopoiesis, particularly in aplastic anemia, remains to be elucidated. Recent advancements in next generation sequencing technology have revealed a diverse clonal structure in these bone marrow failure syndromes, as well as in age-related clonal hematopoiesis in healthy people. In this review article, we describe gene mutations in bone marrow failure syndromes, together with those detected in healthy people.
authors.affiliation: Kyoto University, Department of Hematology & Oncology, Graduate School of Medicine.
authors.forename: Tetsuichi
authors.initials: T
authors.lastname: Yoshizato
authors.forename: Hideki
authors.initials: H
authors.lastname: Makishima
mesh_terms: D000741:Anemia, Aplastic / Q000175:diagnosis / Q000235:genetics*; D001855:Bone Marrow Diseases / Q000175:diagnosis / Q000235:genetics*; D000080983:Bone Marrow Failure Disorders; D002877:Chromosomes, Human; D006457:Hemoglobinuria, Paroxysmal / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D009154:Mutation; D011379:Prognosis