Malignant myeloid transformation in a child with severe congenital neutropenia (Kostmann's syndrome).
We report a case of a child with severe congenital neutropenia (Kostmann's syndrome) who was treated with daily prophylactic subcutaneous granulocyte colony-stimulating factor (G-CSF) from the age of eight to sixteen years before being discontinued for poor haematological and clinical response. She did not have a HLA-matched sibling to enable bone marrow transplantation. She subsequently developed acute megakaryoblastic leukemia at the age of 17 years and succumbed during induction chemotherapy. The role of G-CSF in the pathogenesis of her malignant transformation to AML is complicated as this disorder has a propensity for myelodysplasia or AML as part of its natural history.
Chong
L A
LA
Department of Paediatrics, University of Malaya Medical Centre, Kuala Lumpur.
Josephine
P
P
Ariffin
H
H
D002471:Cell Transformation, Neoplastic / Q000473:pathology*; D002675:Child, Preschool; D017809:Fatal Outcome; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007951:Leukemia, Myeloid / Q000473:pathology*; D009503:Neutropenia / Q000151:congenital* / Q000473:pathology; D012720:Severity of Illness Index; D013577:Syndrome; D013997:Time Factors