山东医药
山東醫藥
산동의약
SHANDONG MEDICAL JOURNAL
2015年
15期
1-3
,共3页
唐克晶%魏辉%林冬%刘云涛%周春林%王迎%秘营昌%王建祥%王敏
唐剋晶%魏輝%林鼕%劉雲濤%週春林%王迎%祕營昌%王建祥%王敏
당극정%위휘%림동%류운도%주춘림%왕영%비영창%왕건상%왕민
白血病%急性髓系白血病%Fms样酪氨酸激酶3%基因突变%内部串联重复突变%酪氨酸激酶结构域点突变
白血病%急性髓繫白血病%Fms樣酪氨痠激酶3%基因突變%內部串聯重複突變%酪氨痠激酶結構域點突變
백혈병%급성수계백혈병%Fms양락안산격매3%기인돌변%내부천련중복돌변%락안산격매결구역점돌변
leukemia%acute myeloid leukemia%Fms-like tyrosine kinase 3%gene mutation%internal tandem duplica-tion mutation%point mutation in tyrosine kinase domain
目的：观察急性髓系白血病（AML）患者Fms样酪氨酸激酶3（FLT3）基因内部串联重复（ITD）突变、酪氨酸激酶结构域（ TKD）点突变的发生情况，分析并比较双突变患者与单突变患者的临床资料。方法 AML患者432例，取新鲜骨髓分离单个核细胞，提取DNA，采用PCR法对FLT3基因第14、15外显子多发突变区及第20外显子突变区进行扩增，经琼脂糖凝胶电泳，分析ITD、TKD突变情况。收集并比较FLT3基因ITD、TKD双突变AML患者与单突变患者的性别、年龄、白细胞、血红蛋白、血小板、外周血原始细胞比例、骨髓原始细胞比例、治疗缓解情况等资料。结果432例AML患者中共检出FLT3基因突变102例。 TKD、ITD双突变11例；FLT3基因单突变91例，其中ITD突变60例，TKD突变31例。 FLT3基因ITD、TKD双突变与单突变患者的性别、年龄、白细胞、血红蛋白、血小板、骨髓原始细胞比例、外周血原始细胞比例及治疗缓解情况差异均无统计学意义。结论少数AML患者可同时发生FLT3基因ITD、TKD突变，FLT3基因双突变患者与单突变患者临床特征无明显差异。
目的：觀察急性髓繫白血病（AML）患者Fms樣酪氨痠激酶3（FLT3）基因內部串聯重複（ITD）突變、酪氨痠激酶結構域（ TKD）點突變的髮生情況，分析併比較雙突變患者與單突變患者的臨床資料。方法 AML患者432例，取新鮮骨髓分離單箇覈細胞，提取DNA，採用PCR法對FLT3基因第14、15外顯子多髮突變區及第20外顯子突變區進行擴增，經瓊脂糖凝膠電泳，分析ITD、TKD突變情況。收集併比較FLT3基因ITD、TKD雙突變AML患者與單突變患者的性彆、年齡、白細胞、血紅蛋白、血小闆、外週血原始細胞比例、骨髓原始細胞比例、治療緩解情況等資料。結果432例AML患者中共檢齣FLT3基因突變102例。 TKD、ITD雙突變11例；FLT3基因單突變91例，其中ITD突變60例，TKD突變31例。 FLT3基因ITD、TKD雙突變與單突變患者的性彆、年齡、白細胞、血紅蛋白、血小闆、骨髓原始細胞比例、外週血原始細胞比例及治療緩解情況差異均無統計學意義。結論少數AML患者可同時髮生FLT3基因ITD、TKD突變，FLT3基因雙突變患者與單突變患者臨床特徵無明顯差異。
목적：관찰급성수계백혈병（AML）환자Fms양락안산격매3（FLT3）기인내부천련중복（ITD）돌변、락안산격매결구역（ TKD）점돌변적발생정황，분석병비교쌍돌변환자여단돌변환자적림상자료。방법 AML환자432례，취신선골수분리단개핵세포，제취DNA，채용PCR법대FLT3기인제14、15외현자다발돌변구급제20외현자돌변구진행확증，경경지당응효전영，분석ITD、TKD돌변정황。수집병비교FLT3기인ITD、TKD쌍돌변AML환자여단돌변환자적성별、년령、백세포、혈홍단백、혈소판、외주혈원시세포비례、골수원시세포비례、치료완해정황등자료。결과432례AML환자중공검출FLT3기인돌변102례。 TKD、ITD쌍돌변11례；FLT3기인단돌변91례，기중ITD돌변60례，TKD돌변31례。 FLT3기인ITD、TKD쌍돌변여단돌변환자적성별、년령、백세포、혈홍단백、혈소판、골수원시세포비례、외주혈원시세포비례급치료완해정황차이균무통계학의의。결론소수AML환자가동시발생FLT3기인ITD、TKD돌변，FLT3기인쌍돌변환자여단돌변환자림상특정무명현차이。
Objective To observe the concurrence of acute myeloid leukemia ( AML) patients with FLT3 mutation-in-ternal tandem duplication ( FLT3-ITD) mutation and point mutation in the tyrosine kinase domain ( FLT3-TKD) , and then to analyze and compare the clinical characteristics between patients with the double mutations and patients with single muta-tion.Methods A total of 432 patients with AML were selected.We obtained the fresh bone marrow to separate the mono-nuclear cells and extract DNA.The amplifications of FLT3 gene exons 14, 15 multiple mutation domains and exon 20 muta-tion domain was conducted by PCR.ITD and TKD mutations were analyzed by agarose gel electrophoresis (AGE).The clinical data of patient′s gender, age, white blood cells, hemoglobin, platelets, primitive cell percentages of peripheral blood and bone marrow, and remission in AML patients with both FLT3-ITD and FLT3-TKD mutations and patients with single mutation were collected and compared.Results Among 432 AML patients, 102 patients with FLT3 mutation were found, and 11 AML patients with concurrence of both FLT3-ITD and FLT3-TKD mutations;and the other 91 AML patients with only one type of FLT3 mutation, including 60 with FLT3-ITD and 31 with FLT3-TKD.There were no significant differ-ences in the gender, age, white blood cells, hemoglobin, platelets, primitive cell percentages of peripheral blood and bone marrow, and complete remission between AML patients with both FLT3-ITD and FLT3-TKD mutations and AML patients with only one mutation.Conclusions There are a few AML patients with both FLT3-ITD and FLT3-TKD mutations.No significant differences are found in the clinical feathers between patients with both types of FLT3 mutations and patients car-rying only one kind of FLT3 mutation.
