Chronic idiopathic neutropenia is regarded as a benign disorder without ris
k of malignant transformation, We present two patients with chronic idiopat
hic 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 microsatelli
te analysis provided no evidence of microsatellite instability or loss of c
onstitutional heterozygosity. These case studies suggest that chronic idiop
athic neutropenia may constitute a preleukaemic condition in some patients.
Alterations of the G-CSFR or defective DNA mismatch repair do not appear;t
o be involved in malignant transformation.