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一例der(22)缺失而存在der(9)的慢性粒细胞白血病的实验室分析

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摘要 慢性粒细胞白血病（CML）是一种起源于多能造血干细胞的克隆性恶性血液病。其细胞遗传学特征是9号和22号染色体的相互易位，即Ph染色体。该易位导致BCR／ABL融合基因，后者在CML的发病中起着极其重要的作用。
作者 王志林 曹祥山 顾伟英
机构地区 常州市第一人民医院 苏州大学第三附属医院血液实验室 苏州大学第三附属医院血液科
出处 《检验医学》 CAS 北大核心 2011年第6期426-427,共2页 Laboratory Medicine
关键词 慢性粒细胞白血病 der(9) 荧光原位杂交
分类号 R446.11 [医药卫生—诊断学]
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  • 1Sinclair PB,Nacheva EP,Laversha M,et al.Large deletions at the t(9;22) breakpoint are common and may identify a poor-prognosis subgroup of patients with chronic myeloid leukaemia.Blood,2000,95:738-743.
  • 2Cohen N,Rozenfeld-Granot G,Hardan I,et al.Subgroup of patients with Philadelphia-positive chronic myelogenous leukemia characterized by a deletion of 9q proximal to ABL gene:expression profiling,resistance to interferon therapy,and poor prognosis.Cancer Genet Cytogenet ,2001,128:114-119.
  • 3Huntly B J,Reid A,Bench A,et al.Deletions of the derivative chromosome 9 occur at the time of the Philadelphia translocation and provide a powerful and independent prognostic factor in chronic myeloid leukaemia.Blood,2001,98:1732-1738.
  • 4Kolomietz E,Al-Maghrabi J,Brennan S,et al.Primary chromosomal rearrangements of leukemia are frequently accompanied by extensive submicroscopic deletions and may lead to altered prognosis.Blood,2001,97:3581-3588.
  • 5Huntly B J,Bench A,Delabesse E,et al.Derivative chromosome 9deletions in chronic myeloid leukemia:poor prognosis is not associated with loss of ABL-BCR expression,elevated BCR-ABL levels or karyotypic instability.Blood,2002,99:4547-4553.
  • 6Huntly B J,Guilhot F,Reid AG,et al.Imatinib improves but may not fully reverse the poor prognosis of CML patients with derivative chromosome 9 deletions.Blood,2003,102:2205-2212.
  • 7Quintas-Cardama A,Kantarjian H,Talpaz M,et al.Imatinib mesylate therapy may overcome the poor prognostic significance of deletions of derivative chromosome 9 in patients with chronic myelogenous leukemia.Blood ,2005,105:2281-2286.
  • 8Lundan T,Volin L,Ruutu T,et al.Allogeneic stem cell transplantation reverses the poor prognosis of CML patients with deletions in derivative chromosome 9.Leukemia,2005,19:138-140.
  • 9Kantarjian H, Sawyers C, Hochhaus A, et al. Hematologic and cytogenetic responses to imatinib mesylate in chronic myelogenous leukemia, N Engl J Med, 2002, 346:645-652.
  • 10Talpaz M, Silver RT, Druker BJ, et al. Imatinib induces durable hematologic and cytogenetic responses in patients with accelerated phase chronic myeloid leukemia: results of a phase 2 study. Blood, 2002,99:1928-1937.

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检验医学
2011年 第6期

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