title: Two case studies of chronic idiopathic neutropenia preceding acute myeloid leukaemia.
abstract: Chronic idiopathic neutropenia is regarded as a benign disorder without risk of malignant transformation. We present two patients with chronic idiopathic neutropenia who showed disease progression to acute myeloid leukaemia. Sequence analysis of the granulocyte-colony stimulating factor receptor (G-CSFR) gene from leukaemic DNA did not reveal any mutations and microsatellite analysis provided no evidence of microsatellite instability or loss of constitutional heterozygosity. These case studies suggest that chronic idiopathic neutropenia may constitute a preleukaemic condition in some patients. Alterations of the G-CSFR or defective DNA mismatch repair do not appear to be involved in malignant transformation.
authors.affiliation: Division of Haematology, Department of Medicine, Institute of Legal Medicine, Karl-Franzens-University, Graz, Austria.
authors.forename: H W
authors.initials: HW
authors.lastname: Auner
authors.forename: M
authors.initials: M
authors.lastname: Klintschar
authors.forename: R
authors.initials: R
authors.lastname: Crevenna
authors.forename: C
authors.initials: C
authors.lastname: Beham-Schmid
authors.forename: G
authors.initials: G
authors.lastname: Hoefler
authors.forename: G
authors.initials: G
authors.lastname: Mitterbauer
authors.forename: W
authors.initials: W
authors.lastname: Linkesch
authors.forename: H
authors.initials: H
authors.lastname: Sill
mesh_terms: D000208:Acute Disease; D000368:Aged; D002471:Cell Transformation, Neoplastic; D005260:Female; D006801:Humans; D007951:Leukemia, Myeloid / Q000209:etiology* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009503:Neutropenia / Q000150:complications* / Q000235:genetics; D010375:Pedigree; D016188:Receptors, Granulocyte Colony-Stimulating Factor / Q000235:genetics
chemical_list: D016188:Receptors, Granulocyte Colony-Stimulating Factor