title: Mutation of the NPM1 gene contributes to the development of donor cell-derived acute myeloid leukemia after unrelated cord blood transplantation for acute lymphoblastic leukemia.
abstract: Donor cell leukemia (DCL) is a rare but severe complication after allogeneic stem cell transplantation. Its true incidence is unknown because of a lack of correct recognition and reporting, although improvements in molecular analysis of donor-host chimerism are contributing to a better diagnosis of this complication. The mechanisms of leukemogenesis are unclear, and multiple factors can contribute to the development of DCL. In recent years, cord blood has emerged as an alternative source of hematopoietic progenitor cells, and at least 12 cases of DCL have been reported after unrelated cord blood transplantation. We report a new case of DCL after unrelated cord blood transplantation in a 44-year-old woman diagnosed as having acute lymphoblastic leukemia with t(1;19) that developed acute myeloid leukemia with normal karyotype and nucleophosmin (NPM1) mutation in donor cells. To our knowledge, this is the first report of NPM1 mutation contributing to DCL development.
authors: Haematology Department, Hospital General Universitario Gregorio Marañón, Madrid 28007, Spain. grodriguezm.hgugm@salud.madrid.org
authors: Gabriela
authors: G
authors: Rodríguez-Macías
authors: Carolina
authors: C
authors: Martínez-Laperche
authors: Jorge
authors: J
authors: Gayoso
authors: Víctor
authors: V
authors: Noriega
authors: David
authors: D
authors: Serrano
authors: Pascual
authors: P
authors: Balsalobre
authors: Cristina
authors: C
authors: Muñoz-Martínez
authors: José L
authors: JL
authors: Díez-Martín
authors: Ismael
authors: I
authors: Buño
mesh_terms: D000328:Adult; D036101:Cord Blood Stem Cell Transplantation / Q000009:adverse effects*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D000090243:Nucleophosmin; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000601:surgery; D060888:Real-Time Polymerase Chain Reaction; D014184:Transplantation, Homologous / Q000009:adverse effects; D061349:Unrelated Donors
chemical_list: C000716967:NPM1 protein, human; D009687:Nuclear Proteins; D000090243:Nucleophosmin
keywords: ALL; AML; Acute myeloid leukemia; CR; Chimerism; Cord blood transplantation; DCL; Donor cell leukemia; FISH; GVHD; NPM1; NPM1 gene mutation; SCT; UCBT; acute lymphoblastic leukemia; acute myeloid leukemia; complete remission; donor cell leukemia; fluorescence in situ hybridization; graft-versus-host-disease; nucleophosmin; qPCR; real-time quantitative polymerase chain reaction; stem cell transplantation; unrelated cord blood transplantation