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首页> 外文期刊>Genetic testing and molecular biomarkers >Aberrations of Chromosomes 9 and 22 in Acute Lymphoblastic Leukemia Cases Detected by ES-Fluorescence In Situ Hybridization
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Aberrations of Chromosomes 9 and 22 in Acute Lymphoblastic Leukemia Cases Detected by ES-Fluorescence In Situ Hybridization

机译:9号染色体和22号染色体畸变的急性淋巴细胞白血病病例检测到ES-Fluorescence原位杂交

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摘要

A reciprocal translocation between chromosomes 9 and 22 creates oncogenic BCR/ABL fusion in the breakpoint region of the derivative chromosome 22. The aim of this study was to evaluate the importance of atypical fluorescence in situ hybridization (FISH) signal patterns in pediatric and adult acute lymphoblastic leukemia (ALL) cases. We evaluated t(9;22) translocation in 208 cases with ALL (294 tests), including 139 childhood and 69 adult cases by FISH technique using BCR/ABL extra signal (ES) probe. FISH signal patterns observed in pediatric ALL cases were as follows; Major-BCR/ABL (M-BCR/ABL) (1.4%), minor-BCR/ABL (m-BCR/ABL) (3.6%), trisomy 9 (4.3%), trisomy 22 (4.3%), trisomy or tetrasomy of both chromosomes 9 and 22 (2.9%), monosomy 9 (1.4%), monosomy 22 (0.7%), ABL gene amplification (1.4%), derivative chromosome 9 deletion (1.4%), and extra copies of the Philadelphia chromosome (1.4%). FISH signal patterns observed in adult ALL cases were as follows; M-BCR/ ABL (5.8%), m-BCR/ABL (11.6%), two different cell clones with major and minor BCR/ABL signal pattern (2.9%), extra copies of Philadelphia chromosome (4.3%), derivative chromosome 9 deletion (1.4%), trisomy 9 (2.9%), tetraploidy (1.4%), monosomy 9 (1.4%), trisomy 22 (1.4%), and coexistence of both trisomy 22 and monosomy 9 (1.4%). Trisomy 9, trisomy 22, and polyploidy of chromosomes 9 and 22 were specific atypical FISH signal patterns for childhood B cell acute lymphoblastic leukemia (B-ALL) patients. However, monosomy 9 and ABL gene amplification were highly specific for childhood T cell acute lymphoblastic leukemia (T-ALL) patients. Our report presents the correlation between atypical FISH signal patterns and clinical findings of a large group of ALL cases.
机译:之间的相互易位染色体9和22产生致癌的BCR / ABL融合断点衍生染色体区域22. 非典型荧光原位的重要性杂交(鱼)在小儿信号模式和成人急性淋巴细胞白血病(ALL)用例。病例(294考试),包括139年儿童和69例成年鱼技术使用BCR / ABL额外的信号(ES)调查。儿科所有病例中观察到信号模式如下;(1.4%)、minor-BCR / ABL (m-BCR / ABL)(3.6%)、三染色体细胞9(4.3%)、三倍体22例(4.3%),三染色体细胞或四体性染色体9和22(2.9%)、染色体9(1.4%)、染色体22 (0.7%),ABL基因放大(1.4%)、衍生染色体9删除(1.4%),和额外的副本费城染色体(1.4%)。成人所有病例中观察到的模式遵循;两种不同的细胞克隆主要和次要的BCR / ABL信号模式(2.9%),额外的副本费城染色体(4.3%)、导数9号染色体缺失(1.4%)、三倍体9例(2.9%),四倍性(1.4%)、染色体9(1.4%)、三倍体22(1.4%),和三倍体22和共存染色体9(1.4%)。多倍体的染色体9和22是特定的非典型鱼儿童期B信号模式细胞急性淋巴细胞白血病(b)病人。放大是非常具体的童年T细胞急性淋巴细胞白血病(T)病人。之间的信号模式和非典型的鱼一大群所有病例的临床结果。

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