title: Spontaneous remission of granulocyte colony-stimulating factor-associated leukemia in a child with severe congenital neutropenia.
abstract: Leukemia is observed with increased frequency in patients with severe congenital neutropenia (SCN). In the past decade, recombinant human granulocyte colony-stimulating factor (rh G-CSF) has prolonged the survival of patients with SCN increasingly reported to have leukemias. In this communication acute myelogenous leukemia (AML) associated with a mutation of the G-CSF receptor (G-CSF-R) developed in a patient with SCN maintained on long-term G-CSF therapy. The blast count in the blood and bone marrow fell to undetectable levels twice on withholding G-CSF and without chemotherapy administration, but the mutant G-CSF-R was detectable during this period. The patient subsequently underwent successful allogeneic bone marrow transplantation. After transplantation, the patient's neutrophil elastase (ELA-2) mutation and G-CSF-R mutation became undetectable by polymerase chain reaction. This report provides novel insights on leukemia developing in congenital neutropenia.
authors.affiliation: Departments of Pediatrics and Hematopathology, University of Texas M. D. Anderson Cancer Center, Houston, TX, USA. sjeha@mdanderson.org
authors.forename: S
authors.initials: S
authors.lastname: Jeha
authors.forename: K W
authors.initials: KW
authors.lastname: Chan
authors.forename: A G
authors.initials: AG
authors.lastname: Aprikyan
authors.forename: W K
authors.initials: WK
authors.lastname: Hoots
authors.forename: S
authors.initials: S
authors.lastname: Culbert
authors.forename: H
authors.initials: H
authors.lastname: Zietz
authors.forename: D C
authors.initials: DC
authors.lastname: Dale
authors.forename: M
authors.initials: M
authors.lastname: Albitar
mesh_terms: D016026:Bone Marrow Transplantation; D002648:Child; D000075202:Contraindications; D016179:Granulocyte Colony-Stimulating Factor / Q000009:adverse effects*; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000139:chemically induced*; D019272:Leukocyte Elastase / Q000235:genetics; D008297:Male; D009154:Mutation; D009503:Neutropenia / Q000150:complications / Q000151:congenital* / Q000235:genetics; D016188:Receptors, Granulocyte Colony-Stimulating Factor / Q000235:genetics; D011994:Recombinant Proteins / Q000009:adverse effects; D012075:Remission, Spontaneous; D014184:Transplantation, Homologous
chemical_list: D016188:Receptors, Granulocyte Colony-Stimulating Factor; D011994:Recombinant Proteins; D016179:Granulocyte Colony-Stimulating Factor; D019272:Leukocyte Elastase