title: Detection of paroxysmal nocturnal hemoglobinuria clones to exclude inherited bone marrow failure syndromes.
abstract: BACKGROUND
  Inherited bone marrow failure syndromes (IBMFS) and acquired aplastic anemia (AA) are life-threatening marrow failure disorders. These entities can be difficult to distinguish because they present similarly. Correct diagnosis is imperative for proper therapy.
  
  
  METHODS
  This is a retrospective, single-center study of patients <40 yr of age, evaluated for bone marrow failure, and assayed for the presence of a PNH clone in the pediatric or adult hematology/oncology clinics from 2001 to present. Patients were also evaluated for IBMFS.
  
  
  RESULTS
  We present results from 156 patients with marrow failure, 20 of whom have IBMFS. None of the IBMSF patients had paroxysmal nocturnal hemoglobinuria (PNH) clones.
  
  
  CONCLUSIONS
  Although further studies are needed, our results suggest that the detection of a PNH clone can be a useful diagnostic tool to exclude the diagnosis of IBMFS and focus the work-up and treatment on an acquired form of marrow failure.
authors.affiliation: The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, The Johns Hopkins University School of Medicine, Baltimore, MD, USA; Division of Hematology, Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Amy E
authors.initials: AE
authors.lastname: DeZern
authors.forename: Heather J
authors.initials: HJ
authors.lastname: Symons
authors.forename: Linda S
authors.initials: LS
authors.lastname: Resar
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Borowitz
authors.forename: Mary Y
authors.initials: MY
authors.lastname: Armanios
authors.forename: Robert A
authors.initials: RA
authors.lastname: Brodsky
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000741:Anemia, Aplastic; D001853:Bone Marrow / Q000473:pathology; D001855:Bone Marrow Diseases; D000080983:Bone Marrow Failure Disorders; D002648:Child; D002675:Child, Preschool; D060965:Clonal Evolution; D003937:Diagnosis, Differential; D005260:Female; D006457:Hemoglobinuria, Paroxysmal / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012189:Retrospective Studies; D055815:Young Adult
keywords: aplastic anemia; bone marrow failure; inherited marrow failure; pancytopenia; paroxysmal nocturnal hemoglobinuria