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首页> 外文期刊>Revista Cubana de Hematología, Inmunología y Hemoterapia >Hybridization patterns of ETV6/RUNX1 gen in pediatric patients with acute lymphoblastic leukemia
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Hybridization patterns of ETV6/RUNX1 gen in pediatric patients with acute lymphoblastic leukemia

机译：小儿急性淋巴细胞白血病患者ETV6 / RUNX1基因的杂交方式

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Introduction: The t(12;21) (p13;q22) translocation is the most common chromosomal abnormality alteration in pediatric patients with B-cell acute lymphoblastic leukemia (B-ALL), its molecular consequence is the fusion gene ETV6/RUNX1.This translocation is cryptic, so it escapes conventional cytogenetic diagnosis. One of the diagnosis tool is the fluorescence in situ hybridization (FISH) technique. Objective: To describe hybridization signals patterns observed in pediatric patients with B-ALL. Methods: Bone marrow samples of 25 pediatric patients with diagnosis of ALL-B were studied at the Cytogenetics Laboratory of the Institute of Hematology and Immunology. LSI ETV6/RUNX1 Dual Color Dual Fusion probe was used. Results: Eight samples were positive to ETV6/RUNX1 fusion gene, in four of them additional chromosomal alterations were observed: deletion of ETV6 gene allele not translocated, one extra copy of chromosome 21 derivative and extra copies of chromosome 21. Of the 17 negative fusion gene samples, hyperdiploidy was observed in three of them. Conclusions: The FISH technique was useful for detecting chromosomal abnormalities non visible to karyotype such as t (12;21) and its fusion gene. Also it facilitated the diagnosis of additional chromosomal alterations with prognostic implications
机译：简介：t（12; 21）（p13; q22）易位是小儿B细胞急性淋巴细胞白血病（B-ALL）患者最常见的染色体异常改变，其分子后果是融合基因ETV6 / RUNX1。易位是隐性的，因此可以逃脱常规的细胞遗传学诊断。诊断工具之一是荧光原位杂交（FISH）技术。目的：描述在儿科B-ALL患者中观察到的杂交信号模式。方法：在血液学和免疫学研究所的细胞遗传学实验室研究了25例确诊为ALL-B的儿科患者的骨髓样本。使用了LSI ETV6 / RUNX1 Dual Color Dual Fusion探针。结果：8个样本对ETV6 / RUNX1融合基因呈阳性，在其中四个中观察到其他染色体改变：ETV6基因等位基因的缺失不易位，一个额外的21号染色体衍生物和21个染色体中的拷贝。基因样本中，在其中三个中观察到超二倍体。结论：FISH技术可用于检测核型不可见的染色体异常，例如t（12; 21）及其融合基因。它还有助于诊断其他具有预后意义的染色体改变

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