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Detection and analysis of the function of fusion gene in childhood leukemia with chromosomal translocation.

儿童染色体易位白血病融合基因功能检测与分析

基本信息

批准号：
07670886
负责人：
FUNABIKI Tetsunori
金额：
$ 1.41万
依托单位：
Yokohama City University
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (C)
财政年份：
1995
资助国家：
日本
起止时间：
1995 至 1996
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-07670886/
关键词：
AML1 EVI1 E2A HLF TLS FUS ERG MTG8 ALK 微小残存病変末梢血幹細胞移植

项目摘要

In the study 1 to 5, we detected fusion genes and determined nucleotide sequence of the breakpoint in the childhood leukemia or solid tumor which carring chromosomal translocation. In addition, we described the distinctive clinical features of these disease. In the study 6 to 7, the significance of minimal residual disease (MRD) assessed by detection of fusion gene in the clinical course was discussed.study 1: The expression of EVI1 was detected in the acute myelocytic leulemia cell with der(3)t(3;10)(q21;q22),der(10)(q21;q22)inv(3)(q21q26).study 2: The fusion gene of FUS(TLS)/ERG was detected in the leukemia cell with t(16;21)(p11;q22), and the nucleotide sequence of the break point was determined.study 3: The expression of AML1/MDS/EVI1 was detected in the treatment-related myelocytic leukemia with t(3q-;21q+) and the nucleotide sequence of the break point was determined.study 4: The fusion gene of E2A/HLF was detected in the acute lymphocytic leukemia cell with t(17q-;19p+), and the nucleotide sequence of the break point was determined.study 5: The expression of ALK was detected in the epithelioid cell with t(2;7)(p23;q32-34), and the nucleotide sequence of the break point was determined.study 6: MRD was serially examined by the detection of PML/RARa in the acute promyelocytic leukemia cases with t(15;17)(q22;q11-21), in order to study the effect of new anti-leukemic agent.study 7: We detected MRD in six out of 33 acute lymphocytic leukemia patients by the examination of TEL/AML1 fusion gene which is the result of t(12;21)(q13;q22), and the prognostic significance of MRD was discussed.

在研究1至5中，我们检测了携带染色体易位的儿童白血病或实体瘤中的融合基因并确定了断点的核苷酸序列。此外，我们还描述了这些疾病的独特临床特征。研究6～7探讨了融合基因检测评估微小残留病（MRD）在临床过程中的意义。研究1：在der(3)t(3;10)(q21;q22)、der(10)(q21;q22)inv(3)(q21q26)的急性髓系白血病细胞中检测EVI1的表达。图2：在t(16;21)(p11;q22)的白血病细胞中检测到FUS(TLS)/ERG融合基因，并确定断点的核苷酸序列。研究3：在t(3q-;21q+)的治疗相关性粒细胞白血病中检测到AML1/MDS/EVI1的表达以及断点的核苷酸序列研究4：在t(17q-;19p+)的急性淋巴细胞白血病细胞中检测到E2A/HLF融合基因，并确定断裂点的核苷酸序列。研究5：在t(2;7)(p23;q32-34)的上皮样细胞中检测ALK的表达，并确定断裂点的核苷酸序列研究6：通过检测t(15;17)(q22;q11-21)急性早幼粒细胞白血病病例中的PML/RARa来连续检测MRD，以研究新型抗白血病药物的效果。研究7：我们通过检测TEL/AML1融合基因，在33例急性淋巴细胞白血病患者中检测到6例MRD。讨论t(12;21)(q13;q22)的结果以及MRD的预后意义。