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首页> 外文期刊>Leukemia Research and Treatment >A Novel Cryptic Three-Way Translocation t(2;9;18)(p23.2;p21.3;q21.33) with Deletion of Tumor Suppressor Genes in 9p21.3 and 13q14 in a T-Cell Acute Lymphoblastic Leukemia
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A Novel Cryptic Three-Way Translocation t(2;9;18)(p23.2;p21.3;q21.33) with Deletion of Tumor Suppressor Genes in 9p21.3 and 13q14 in a T-Cell Acute Lymphoblastic Leukemia

机译：一种新型的隐性三向移位t（2; 9; 18）（p23.2; p21.3; q21.33），在T细胞急性淋巴细胞白血病中删除了9p21.3和13q14中的肿瘤抑制基因

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Acute leukemia often presents with pure chromosomal resolution; thus, aberrations may not be detected by banding cytogenetics. Here, a case of 26-year-old male diagnosed with T-cell acute lymphoblastic leukemia (T-ALL) and a normal karyotype after standard GTG-banding was studied retrospectively in detail by molecular cytogenetic and molecular approaches. Besides fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and high resolution array-comparative genomic hybridization (aCGH) were applied. Thus, cryptic chromosomal aberrations not observed before were detected: three chromosomes were involved in a cytogenetically balanced occurring translocation t(2;9;18)(p23.2;p21.3;q21.33). Besides a translocation t(10;14)(q24;q11) was identified, an aberration known to be common in T-ALL. Due to the three-way translocation deletion of tumor suppressor genesCDKN2A/INK4A/p16, CDKN2B/INK4B/p15, andMTAP/ARF/p14in 9p21.3 took place. AdditionallyRB1in 13q14 was deleted. This patient, considered to have a normal karyotype after low resolution banding cytogenetics, was treated according to general protocol of anticancer therapy (ALL-BFM 95).
机译：急性白血病通常表现为纯染色体分离;因此，通过带状细胞遗传学可能无法检测到像差。在这里，通过分子细胞遗传学和分子生物学方法，回顾性地研究了一例26岁男性，经标准GTG显像后，诊断为T细胞急性淋巴细胞白血病（T-ALL）和正常核型。除了荧光原位杂交（FISH），还应用了多重连接依赖性探针扩增（MLPA）和高分辨率阵列比较基因组杂交（aCGH）。因此，发现了之前未观察到的隐秘染色体畸变：三个染色体参与了细胞遗传平衡发生的易位t（2; 9; 18）（p23.2; p21.3; q21.33）。除了确定了易位t（10; 14）（q24; q11）之外，T-ALL中常见的像差也很常见。由于三向易位，肿瘤抑制基因CDKN2A / INK4A / p16，CDKN2B / INK4B / p15和MTAP / ARF / p14在9p21.3中发生缺失。此外，删除了13q14中的RB1。根据抗癌治疗的一般方案（ALL-BFM 95）治疗了该患者，该患者被认为在低分辨率条带化细胞遗传学后具有正常的核型。

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