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首页> 外文期刊>Molecular cytogenetics >An acquired stable variant of a dicentric dic(9;20) and complex karyotype in a Syrian childhood B-acute lymphoblastic leukemia case
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An acquired stable variant of a dicentric dic(9;20) and complex karyotype in a Syrian childhood B-acute lymphoblastic leukemia case

机译：在叙利亚儿童B型急性淋巴细胞白血病壳体中获取的Dicentric DIC（9; 20）和复杂核型的稳定变体

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Background:About 25?years ago, the acquired chromosome abnormality dicentric dic(9;20)(p11?~?13;q11) was seen described as a non-random aberration in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Yet, about 200 cases were reported. However, dicentric dic(9;20) is a subtle abnormality which easily may be mixed up with monosomy 20 and/or del(9p). The dicentric dic(9;20) can be found as a sole chromosomal abnormality or can be masked within complex rearrangements; also, a dicentric dic(9;20) is often associated with mono- or biallelic loss of CDKN2A gene.Case presentation:Here we report a case of 16-year-old male diagnosed with a de novo pre-B-ALL. Molecular approaches (array-based multicolor banding (aMCB) and array comparative genomic hybridization (aCGH)) were applied, and a unique complex karyotype involving six chromosomes was identified. It included three previously unreported chromosomal aberrations: dicentric dic(9;20;X), deletion del(7)(p22.2p15.2) and dicentric dic(7;13). The dicentric dic(9;20;X) also led to monoallelic loss of tumor suppressor gene CDKN2A. After successful chemotherapeutic treatment the patient experienced a relapse with a secondary ALL without complex karyotype but a deletion del(19)(p13). Unfortunately, the patient died after 17?months of the initial diagnosis.Conclusions:To the best of our knowledge, a comparable childhood ALL associated with such complex karyotype and deletion del(19)(p13) in secondary ALL was not previously reported. Thus, the complex karyotype with dicentrc dic(9;20;X) seems to indicate for a poor prognosis.? The Author(s) 2020.
机译：背景：多年前，所获得的染色体异常Dicentric DIC（9; 20）（P11？〜〜13; Q11）被描述为B细胞前体急性淋巴细胞白血病（BCP-全部）中的非随机畸变。 。然而，报告了大约200例。然而，Dicentric DIC（9; 20）是一种微妙的异常，其容易与单体20和/或DEL（9P）混合。 Dicentric DIC（9; 20）可以作为唯一的染色体异常，或者可以在复排里掩模中掩盖;此外，Dicentric DIC（9; 20）通常与CDKN2A基因的单次或双腿损失有关：在这里，我们报告了一个患有DE NOVO PRE-B-全部诊断的16岁男性的案例。施用分子方法（基于阵列的多色条带（AMCB）和阵列对比基因组杂交（ACGH）），鉴定了涉及六条染色体的独特复合核型。它包括三个以前未报告的染色体像差：Dicentric DIC（9; 20; x），删除除（7）（P22.2P15.2）和Dicentric DIC（7; 13）。 DicEntric DIC（9; 20; x）也导致肿瘤抑制基因CDKN2A的单方面丧失。在成功化学治疗治疗后，患者在没有复杂的核型的情况下与继发性复发，但删除除核（19）（P13）。不幸的是，患者在17次初步诊断后死亡。结论：据我们所知，先前未报道，迄今为止，所有与此类复杂的核型和删除蛋白酶（19）（p13）相关的可比较的儿童。因此，具有DICENTRC DIC（9; 20; x）的复杂核型似乎表明预后差。？作者2020年。

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