Clinical and biological significance of granulocyte colony stimulating factor receptor gene abnormalities those found in severe congenital neutropenia

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We conducted sequential G-CSF receptor (CSF3) gene analysis of patients with severe congenital neutropenia, and found a heterogeneous mutation (c. 1947C>T : Ala569Val) in the receptor gene that coded right above cell membrane. This mutation is confirmed as the acquired gene mutation. The patient did not show any change in her clinical course and this mutation disappeared from her marrow six months later. Genome instability like this is interesting in relation to leukemic change of severe congenital neutropenia.