Nuñez Cesar A, Zipf Theodore F, Roberts W Mark, Medeiros L Jeffrey, Hayes Kimberly, Bueso-Ramos Carlos E
Department of Pediatrics, The University of Texas M. D. Anderson Cancer Center, Houston 77030, USA.
Arch Pathol Lab Med. 2003 May;127(5):601-5. doi: 10.5858/2003-127-0601-MMOCFC.
In a patient with precursor B-cell acute lymphoblastic leukemia (ALL) associated with eosinophilia that completely responded to induction chemotherapy, we assayed serial remission cerebrospinal fluid and bone marrow specimens for minimal residual disease using a quantitative polymerase chain reaction assay to assess for clone-specific immunoglobulin heavy-chain gene cluster (IGH) gene rearrangement. Cerebrospinal fluid eosinophilia and minimal residual disease were detected on day 406, preceding the morphologic diagnosis of central nervous system relapse on day 578. By day 841, the bone marrow had 35% blasts. Despite aggressive therapy, including unrelated umbilical cord blood transplantation, the patient developed testicular and bone marrow relapses and died of disease. We conclude that increasing levels of minimal residual disease in cerebrospinal fluid can predict recurrence of ALL prior to clinical and morphologic relapse. Furthermore, we demonstrate a novel translocation in this tumor, the t(5;9)(q31;p24), that possibly led to fusion of the interleukin-3 (IL3) (5q31) and JAK2 (9p24) genes and may explain the concomitant appearance of eosinophilia and ALL.
在一名前驱B细胞急性淋巴细胞白血病（ALL）合并嗜酸性粒细胞增多且对诱导化疗完全缓解的患者中，我们使用定量聚合酶链反应分析对系列缓解期脑脊液和骨髓标本进行微小残留病检测，以评估克隆特异性免疫球蛋白重链基因簇（IGH）基因重排。在第406天检测到脑脊液嗜酸性粒细胞增多和微小残留病，早于第578天中枢神经系统复发的形态学诊断。到第841天，骨髓中有35%的原始细胞。尽管进行了积极治疗，包括无关脐血移植，该患者仍发生睾丸和骨髓复发并死于疾病。我们得出结论，脑脊液中微小残留病水平的升高可在临床和形态学复发之前预测ALL的复发。此外，我们在该肿瘤中发现了一种新的易位，即t(5;9)(q31;p24)，它可能导致白细胞介素-3（IL3）（5q31）和JAK2（9p24）基因融合，并可能解释嗜酸性粒细胞增多和ALL的同时出现。
