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Blood, 15 November 2000, Vol. 96, No. 10, pp. 3647-3649
BRIEF REPORT
Spontaneous remission of granulocyte colony-stimulating
factor-associated leukemia in a child with severe congenital
neutropenia
Sima Jeha,
Ka Wah Chan,
Andrew G. Aprikyan,
W. Keith Hoots,
Steven Culbert,
Hallie Zietz,
David C. Dale, and
Maher Albitar
From the Departments of Pediatrics and Hematopathology,
University of Texas M.D. Anderson Cancer Center, Houston, TX, and the
Department of Medicine, University of Washington, Seattle, WA.
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.

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