Jeha S, Chan K W, Aprikyan A G, Hoots W K, Culbert S, Zietz H, Dale D C, Albitar M
Departments of Pediatrics and Hematopathology, University of Texas M. D. Anderson Cancer Center, Houston, TX, USA.
Blood. 2000 Nov 15;96(10):3647-9.
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.
在严重先天性中性粒细胞减少症（SCN）患者中，白血病的发病率有所增加。在过去十年中，重组人粒细胞集落刺激因子（rh G-CSF）延长了SCN患者的生存期，越来越多的报道称这些患者患有白血病。在本病例报告中，一名接受长期G-CSF治疗的SCN患者发生了与G-CSF受体（G-CSF-R）突变相关的急性髓系白血病（AML）。在停用G-CSF且未进行化疗的情况下，血液和骨髓中的原始细胞计数两次降至无法检测的水平，但在此期间仍可检测到突变的G-CSF-R。该患者随后成功接受了异基因骨髓移植。移植后，通过聚合酶链反应无法检测到患者的中性粒细胞弹性蛋白酶（ELA-2）突变和G-CSF-R突变。本报告为先天性中性粒细胞减少症中发生的白血病提供了新的见解。
