成人急性淋巴细胞白血病CRLF2突变特点及其临床意义  

Characteristics and Clinical Significance of CRLF2 Mutations in Adult Acute Lymphoblastic Leukemia

作　　者：顾岩[1] 吴雨洁[1] 韩旗[1] 周喜连 乔纯[1] 李建勇[1] 葛峥[1,2] 

机构地区：[1]南京医科大学第一附属医院,江苏省人民医院血液科,江苏南京210029 [2]东南大学附属中大医院血液科,江苏南京210009

出　　处：《中国实验血液学杂志》2017年第2期328-333,共6页Journal of Experimental Hematology

基　　金：国家自然科学基金面上项目(81270613,30973376,81370656);江苏省医学重点人才(RC2011077);中国博士后科学基金特别资助(201003598);中国博士后科学基金(20090461134);教育部"留学回国人员科研启动基金"(第39批);江苏省"六大人才高峰"资助(2010-WS-024);东南大学基础科研扶持项目(2242016k40143);南京市留学回国人员科技活动项目择优资助(2009)

摘　　要：目的:探讨成人急性淋巴细胞白血病(ALL)中CRLF2突变特点及其与预后关系。方法:特异性扩增CRLF2外显子,其后DNA纯化、测序,分析突变类型、突变发生率及其临床特点。结果:本组共检测到6种基因改变类型,其中R186S提示预后较好,L86I、F232F、W255C可能与预后不良有关。结论:CRLF2突变在成人急性淋巴细胞白血病的发生发展中起着重要作用,其存在可能提示不良预后。Objective： Cytokine receptor-like factor 2 （ CRLF2 ） plays an important role in the development of normal B lymphocytes, which can mediate early B cell proliferation and survival. The aim of this study was to investigate the mutations of CRLF2 and its clinical significance in adult patients with acute lymphoblastic leukemia （ALL）. Methods： Exons of CRLF2 were amplified, then the DNA was purified and sequenced; the frequency, position, types and clinical significance of CRLF2 mutations were analyzed. Results： 6 types of genetic alterations in CRLF2 were found, among them the R186S prompted better prognosis, while L86I, F232F and W255C associated with poor prognosis. Conclusion： CRLF2 mutations may play an important role in the development and progressions of adult patients with ALL, and these genetic abnormalities may associate with clinical outcome.

关 键 词：CRLF2突变 成人急性淋巴细胞白血病 突变类型 

分 类 号：R733.71[医药卫生—肿瘤]