title: Kostmann's disease, recombinant HuG-CSF, monosomy 7 and MDS/AML.
abstract: Monosomy 7 (Mo7) and leukaemia predisposition are associated with Kostmann's disease (KD). The recent introduction of long-term recombinant HuG-CSF treatment in patients with KD, whilst showing significant reductions in infectious complications and improved quality of life, might also be associated with an increased risk of developing karyotypic abnormalities, myelodysplasia (MDS) and acute myeloid leukaemia (AML). We describe a case of an identical twin with probable autosomal dominant KD who developed anaemia, Mo7/MDS and AML at 18, 30 and 50 months respectively from starting r-metHuG-CSF (filgrastim) treatment. Further patient analyses are required to establish the natural history of KD and to determine what role, if any, filgrastim plays in altering the pathobiology of this disorder.
authors.affiliation: Department of Haematology and Oncology, Great Ormond Street Hospital for Children NHS Trust, London.
authors.forename: O P
authors.initials: OP
authors.lastname: Smith
authors.forename: B R
authors.initials: BR
authors.lastname: Reeves
authors.forename: H M
authors.initials: HM
authors.lastname: Kempski
authors.forename: J P
authors.initials: JP
authors.lastname: Evans
mesh_terms: D000380:Agranulocytosis / Q000150:complications / Q000151:congenital* / Q000628:therapy; D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7; D004200:Diseases in Twins; D000069585:Filgrastim; D005500:Follow-Up Studies; D016179:Granulocyte Colony-Stimulating Factor / Q000009:adverse effects* / Q000627:therapeutic use; D006801:Humans; D015479:Leukemia, Myelomonocytic, Acute / Q000209:etiology*; D008297:Male; D009006:Monosomy; D009190:Myelodysplastic Syndromes / Q000209:etiology; D011994:Recombinant Proteins / Q000009:adverse effects / Q000627:therapeutic use; D014430:Twins, Monozygotic
chemical_list: D011994:Recombinant Proteins; D016179:Granulocyte Colony-Stimulating Factor; D000069585:Filgrastim