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首页> 外文期刊>Molecular syndromology >Cytogenetic and Molecular Findings in Children with Acute Lymphoblastic Leukemia: Experience of a Single Institution in Argentina
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Cytogenetic and Molecular Findings in Children with Acute Lymphoblastic Leukemia: Experience of a Single Institution in Argentina

机译：儿童急性淋巴细胞白血病的细胞遗传学和分子发现：在阿根廷的一个单一机构的经验。

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The purpose of the current study was to evaluate the cytogenetic findings in 1,057 children with acute lymphoblastic leukemia (ALL) referred to the cytogenetics laboratory at the Hospital de Pediatría Dr. Juan P. Garrahan, between 1991 and 2014. Chromosomal abnormalities were evaluated by G-banding and FISH. Since December 2002, RT-PCR determinations were systematically carried out for BCR-ABL1, KMT2A-AFF1, ETV6-RUNX1, and TCF3-PBX1 rearrangements in children, adding KMT2A-MLLT3 and KMT2A-MLLT1 in infants. The percentage of abnormalities detected by cytogenetics was 70.1%. Four novel abnormalities, t(2;8)(p11.2;p22), inv(4)(p16q25), t(1;7)(q25;q32), and t(5;6)(q21;q21), were found in this cohort. We compared cytogenetic and RT-PCR results for BCR-ABL1, KMT2A-AFF1 and TCF3-PBX1 rearrangements in 497 children evaluated by both methods. The results were highly concordant (p < 0.7), and interestingly, FISH was relevant to confirm G-banding findings that were discordant with RT-PCR studies. This study showed the importance of performing G-banding, FISH and RT-PCR simultaneously to improve the detection of chromosomal abnormalities considering their important value in the diagnosis and prognosis of childhood ALL patients. Finally, to the best of our knowledge, this is the first series of cytogenetic findings in children with ALL reported in Argentina.
机译：本研究的目的是评估1991年至2014年间转诊至Pediatría医院Juan P. Garrahan博士细胞遗传学实验室的1,057例急性淋巴细胞白血病（ALL）儿童的细胞遗传学结果。带和FISH。自2002年12月以来，系统地对BCR-ABL1，KMT2A-AFF1，ETV6-RUNX1和TCF3-PBX1重排进行了RT-PCR测定，并在婴儿中添加了KMT2A-MLLT3和KMT2A-MLLT1。细胞遗传学检测到的异常百分比为70.1％。四个新颖的​​异常t（2; 8）（p11.2; p22），inv（4）（p16q25），t（1; 7）（q25; q32）和t（5; 6）（q21; q21） ，在此队列中被发现。我们比较了两种方法评估的497名儿童中BCR-ABL1，KMT2A-AFF1和TCF3-PBX1重排的细胞遗传学和RT-PCR结果。结果高度一致（p <0.7），有趣的是，FISH与证实与RT-PCR研究不一致的G谱带发现有关。这项研究表明，同时进行G显带，FISH和RT-PCR对改善染色体异常的检测非常重要，因为它们在儿童ALL患者的诊断和预后中具有重要价值。最后，据我们所知，这是阿根廷报道的所有ALL儿童的第一批细胞遗传学发现。

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