9号衍生染色体在慢性粒细胞白血病预后评估中的意义

doi:10.13481/j.1671-587x.20160221

摘要/Abstract

摘要：

目的: 通过检测精氨酸琥珀酸合成酶(ASS)基因的方法以检测9号衍生染色体,探讨9号衍生染色体缺失与慢性粒细胞白血病(CML)患者治疗效果及预后的相关性。方法: 收集BCR-ABL融合基因阳性的34例曾进行过ASS基因检测的CML患者的资料进行回顾性分析,所有病例均采用Extra-signal(ES)探针检测ASS基因。根据是否伴有9号衍生染色体分为2组,应用Fisher确切概率法比较2组患者的急变率/加速率。结果: 经荧光原位杂交(FISH)(BCR/ABL ES探针)检测所有患者的BCR-ABL融合信号均为阳性,34例患者中有6例患者存在ASS基因缺失,其中慢性期1例,急变期/加速期5例;而无ASS基因缺失的28例患者中处于慢性期共22例,急变期/加速期共6例,2组患者急变率/加速率比较差异有统计学意义(P<0.05)。应用酪氨酸激酶抑制剂(TKI)治疗患者共26例,其中ASS基因缺失患者5例,TKI治疗后达分子学缓解1例,治疗后发生急变/加速4例;无ASS基因缺失21例,TKI治疗后达分子学缓解19例,治疗后发生急变/加速2例,2组患者急变率/加速率比较差异有统计学意义(P<0.05)。应用羟基脲、干扰素等传统化疗方案治疗的患者共6例,其中ASS基因缺失1例,治疗后发生急变/加速1例;无ASS基因缺失5例,治疗后血液学缓解2例,治疗后发生急变/加速3例,2组患者急变率/加速率比较差异无统计学意义(P>0.05)。结论: 伴9号衍生染色体(ASS基因缺失)的CML患者易发生疾病进展,在急变期及加速期的患者中所占比例更高。9号衍生染色体与CML患者TKI治疗效果不佳和不良预后有关联。

关键词: 慢性粒细胞白血病, 精氨酸琥珀酸合成酶基因, 9号衍生染色体, 预后

Abstract:

Objective: To determine the derivative chromosome 9 by the method of detecting the ASS gene, and to explore the relationship between the deletion of derivative chromosome 9 and the efficacy and prognosis of the chronic myeloid leukemia (CML) patients.Methods: The materials of 34 CML patients with positive BCR-ABL fusion gene whose ASS genes were detected were retrospectively analyzed. All patients were treated with Extra-signal (ES) probe to detect the derivative chromosome 9.All patients were divided into two groups according to whether they carried the derivative chromosome 9.The blastic phase or theaccelerated phase rates in two groups were compared by using Fisher exact probability.Results: All patients were detected by FISH (BCR-ABL ES probe), and all the BCR-ABL fusion signals were positive.6 of 34 patients were found the deletion of ASS gene, among them 1 case blonged to chronic phase, and 5 cases developed into blastic phase or accelerated phase.In the patients without ASS gene deletion, there were 22 cases in chronic phase, and 6 cases in plastic phase or accelerate phase, there was significant difference of blastic phase rate/accelated phase rate between them(P<0.05).A total of 26 patients were treated with tyrosine kinase inhibitors (TKI). 5 of 26 patients belonged to the ASS gene deletion group, 1 of 5 patients treated with TKI got molecular remission, 4 of 5 patients developed into blastic phase or accelerated phase. 21 of 26 patients belonged to the group without ASS gene deletion, and among them, 19 cases got molecular remission, 2 cases developed into plastic phase or accelerated phase after treatment of TKI, there was significant difference between them(P<0.05).6 patients were treated with traditional chemotherapy (hydroxyurea, interferon);1 of 6 patients belonged to the ASS gene deletion group, finally developed into the blastic phase or accelerated phase; 5 of 6 patients belonged to the group without ASS gene deletion, 2 cases got the hematological remission, and 3 patients developed into blastic phase or accelerated phase after treatment, and there was no significant difference of blastic phase rate/accelerated phase rate between them (P>0.05).Conclusion: The CML patients with derivative chromosome 9 (ASS gene deletion) prone to get disease progression, and have a higher proportion in the blastic phase or accelerated phasepatients.Derivative chromosome 9 is related to the bad treatment efficacy of TKI and the poor prognosis of CML.

Key words: chronic myeloid leukemia, argininosuccinate synthetase gene, derivative chromosome 9

中图分类号:

R733.72

董洁, 李薇, 白晶, 林海, 刘春水, 韩薇, 胡瑞萍, 崔久嵬. 9号衍生染色体在慢性粒细胞白血病预后评估中的意义[J]. 吉林大学学报(医学版), 2016, 42(02): 301-305.

DONG Jie, LI Wei, BAI Jing, LIN Hai, LIU Chunshui, HAN Wei, HU Ruiping, CUI Jiuwei. Significance of derivative chromosome 9 in evaluation on prognosis of chronic myeloid leukemia[J]. Journal of Jilin University Medicine Edition, 2016, 42(02): 301-305.

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