At the age of 6 months, he developed severe neutropenia requiring G-CSF administration, and despite only mild morphological and immunophenotypical disturbances in the BM, 78% of the BM cells showed monosomy 7 at the age of 18 months.
The abnormal response of monosomy 7 cells to GCSF would be explained by the expansion of undifferentiated monosomy 7 clones expressing the class IV GCSFR, which is defective in signaling cell maturation.
Advances in the treatment of aplastic anemia (AA) have led to the long-term survival of nontransplanted AA patients; however, the issue of subsequent hematological clonal disorders has been raised as some AA patients treated with immunosuppressive therapy or granulocyte-colony stimulating factor (G-CSF) went on to develop myelodysplastic syndromes (MDS) and/or acute myeloid leukemia (AML) with the frequent presentation of monosomy 7.
The evidence of clonal evolution with monosomy 7 in aplastic anemia following granulocyte colony-stimulating factor using the polymerase chain reaction.