title: Paroxysmal nocturnal hemoglobinuria clones in children with acquired aplastic anemia: a multicentre study.
abstract: A multicentre study evaluating the presence of glycosil phosphatidyl-inositol (GPI)-negative populations was performed in 85 children with acquired aplastic anemia (AA). A GPI-negative population was observed in 41% of patients at diagnosis, 48% during immune-suppressive therapy (IST), and 45% in patients off-therapy. No association was found between the presence of a GPI-negative population at diagnosis and the response to IST. In addition, the response rate to IST did not differ between the patients who were GPI-positive at diagnosis and later developed GPI-negative populations and the 11 patients who remained GPI-positive. Two patients with a GPI-negative population >10%, and laboratory signs of hemolysis without hemoglobinuria were considered affected by paroxysmal nocturnal hemoglobinuria (PNH) secondary to AA; no thrombotic event was reported. Excluding the 2 patients with a GPI-negative population greater than 10%, we did not observe a significant correlation between LDH levels and GPI-negative population size. In this study monitoring for laboratory signs of hemolysis was sufficient to diagnose PNH in AA patients. The presence of minor GPI-negative populations at diagnosis in our series did not influence the therapeutic response. As occasionally the appearance of a GPI-negative population was observed at cyclosporine (CSA) tapering or AA relapse, a possible role of GPI-negative population monitoring during IST modulation may need further investigation.
authors.affiliation: Pediatric Onco-Hematology, Regina Margherita Children's Hospital, Turin, Italy; Pediatric Hematology, University of Turin, Turin, Italy.
authors.forename: Fabio
authors.initials: F
authors.lastname: Timeus
authors.affiliation: Pediatric Hematology, University of Turin, Turin, Italy.
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Crescenzio
authors.affiliation: Pediatric Department MBBM Foundation S. Gerardo Hospital, Monza, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Longoni
authors.affiliation: Pediatric Hematology, University of Turin, Turin, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Doria
authors.affiliation: Pediatric Hematology, University of Turin, Turin, Italy.
authors.forename: Luiselda
authors.initials: L
authors.lastname: Foglia
authors.affiliation: Pediatric Hematology, University of Turin, Turin, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Pagliano
authors.affiliation: Pediatric Onco-Hematology, Regina Margherita Children's Hospital, Turin, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Vallero
authors.affiliation: Pediatric Department MBBM Foundation S. Gerardo Hospital, Monza, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Decimi
authors.affiliation: Hematology Unit, G. Gaslini Children's Hospital, Genoa, Italy.
authors.forename: Johanna
authors.initials: J
authors.lastname: Svahn
authors.affiliation: Pediatric Onco-Hematology Department, Bambin Gesù Children's Hospital, Rome, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Palumbo
authors.affiliation: Pediatric Oncology, Policlinico Gemelli, Rome, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Ruggiero
authors.affiliation: Department of Pediatrics, University of Bari, Bari, Italy.
authors.forename: Baldassarre
authors.initials: B
authors.lastname: Martire
authors.affiliation: Pediatric Onco-Hematology Unit, University Hospital of Padua, Padua, Italy.
authors.forename: Marta
authors.initials: M
authors.lastname: Pillon
authors.affiliation: Department of Pediatric Haemato-Oncology, Santobono-Pausilipon Hospital, Naples, Italy.
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Marra
authors.affiliation: Hematology Unit, G. Gaslini Children's Hospital, Genoa, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Dufour
authors.affiliation: Pediatric Hematology, University of Turin, Turin, Italy.
authors.forename: Ugo
authors.initials: U
authors.lastname: Ramenghi
authors.affiliation: Pediatric Hematology, University of Turin, Turin, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Saracco
mesh_terms: D000293:Adolescent; D000741:Anemia, Aplastic / Q000150:complications / Q000188:drug therapy* / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D016572:Cyclosporine / Q000627:therapeutic use*; D017261:Glycosylphosphatidylinositols / Q000378:metabolism*; D006457:Hemoglobinuria, Paroxysmal / Q000175:diagnosis* / Q000188:drug therapy / Q000378:metabolism; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use*; D007223:Infant; D007231:Infant, Newborn; D008137:Longitudinal Studies; D016896:Treatment Outcome
chemical_list: D017261:Glycosylphosphatidylinositols; D007166:Immunosuppressive Agents; D016572:Cyclosporine