title: Absence of mutations in the granulocyte colony-stimulating factor (G-CSF) receptor gene in patients with myelodysplastic syndrome/acute myeloblastic leukaemia occurring after treatment of aplastic anaemia with G-CSF.
abstract: The development of myelodysplastic syndrome/acute myeloblastic leukaemia (MDS/AML) has been reported in patients with aplastic anaemia (AA) after administration of recombinant human granulocyte colony-stimulating factor (rhG-CSF). Similarly, patients with severe congenital neutropenia (SCN) have an increased risk of developing MDS/AML after treatment with rhG-CSF. Point mutations in the G-CSF receptor gene are found in about 20% of SCN patients who are predisposed to MDS/AML. We investigated the occurrence of mutations in the G-CSF receptor in eight patients with AA who developed MDS/AML. No mutations were detected around the cytoplasmic domain of the gene in our patients, indicating that the mechanisms of clonal evolution to MDS/AML in patients with AA might be different from those with SCN.
authors: Division of Haematology/Oncology, Children's Medical Centre, Japanese Red Cross Nagoya First Hospital, Japan. kazukok@nagoya-1st.jrc.or.jp
authors: K
authors: K
authors: Kudo
authors: H
authors: H
authors: Nagai
authors: S
authors: S
authors: Numata
authors: M
authors: M
authors: Ichihara
authors: T
authors: T
authors: Kinoshita
authors: K
authors: K
authors: Horibe
authors: K
authors: K
authors: Kato
authors: T
authors: T
authors: Matsuyama
authors: Y
authors: Y
authors: Kodera
authors: S
authors: S
authors: Kojima
mesh_terms: D000328:Adult; D000741:Anemia, Aplastic / Q000188:drug therapy*; D002648:Child; D002675:Child, Preschool; D016179:Granulocyte Colony-Stimulating Factor / Q000627:therapeutic use*; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use*; D015470:Leukemia, Myeloid, Acute / Q000209:etiology*; D008297:Male; D009190:Myelodysplastic Syndromes / Q000209:etiology*; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D016188:Receptors, Granulocyte Colony-Stimulating Factor / Q000235:genetics*; D011994:Recombinant Proteins
chemical_list: D007166:Immunosuppressive Agents; D016188:Receptors, Granulocyte Colony-Stimulating Factor; D011994:Recombinant Proteins; D016179:Granulocyte Colony-Stimulating Factor