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首页> 外文期刊>Molecular cytogenetics >A case of acute myeloid leukemia (AML) with an unreported combination of chromosomal abnormalities: gain of isochromosome 5p, tetrasomy 8 and unbalanced translocation der(19)t(17;19)(q23;p13)
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A case of acute myeloid leukemia (AML) with an unreported combination of chromosomal abnormalities: gain of isochromosome 5p, tetrasomy 8 and unbalanced translocation der(19)t(17;19)(q23;p13)

机译：一例未报告染色体异常组合的急性髓细胞性白血病（AML）：等染色体5p获得，四体8和不平衡易位der（19）t（17; 19）（q23; p13）

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Background Acute myeloid leukemia (AML) comprises a spectrum of myeloid malignancies which are often associated with distinct chromosomal abnormalities, and the analysis of such abnormalities provides us with important information for disease classification, treatment selection and prognosis. Some chromosomal abnormalities albeit recurrent are rare such as tetrasomy 8 or isochromosome 5p. In addition, erratic chromosomal rearrangements may occur in AML, sometimes unbalanced and also accompanied by other abnormalities. Knowledge on the contribution of rare abnormalities to AML disease, progression and prognosis is limited. Here we report a unique case of acute monoblastic leukemia with gain of i(5)(p10), tetrasomy 8, an unbalanced translocation der(19)t(17;19)(q23;p13.3) and mutated NPM1. Results Bone marrow cells were examined by conventional karyotyping, fluorescence in situ hybridization (FISH) and mutation analysis at diagnosis and follow-up. At diagnosis we detected trisomy 8, an unbalanced translocation der(19)t(17;19)(q23;p13.3) and mutated NPM1. During the course of the disease we observed clonal evolution with gain of i(5)(p10), tetrasomy 8 and eventually duplication of der(19)t(17;19)(q23;p13.3). By using the der(19)t(17;19) as clonal marker, we found that i(5)(p10) and tetrasomy 8 were secondary genetic events and that tetrasomy 8 had clonally evolved from trisomy 8. Conclusions This case of acute monoblastic leukemia presents a combination of rare chromosomal abnormalities including the unbalanced translocation der(19)t(17;19)(q23;p13.3), hitherto un-reported in AML. In addition, our case supports the hypothesis of a step-wise clonal evolution from trisomy 8 to tetrasomy 8 in AML. Reporting and collecting data of rare chromosomal abnormalities will add information to AML disease, progression and prognosis, and may eventually translate to improved patient management.
机译：背景急性髓细胞性白血病（AML）包括一系列与恶性染色体异常相关的恶性肿瘤，对此类异常的分析为我们提供了疾病分类，治疗选择和预后的重要信息。一些染色体异常虽然复发，但很少见，例如8号染色体或5p等染色体。此外，AML中可能发生不稳定的染色体重排，有时不平衡，还伴有其他异常。关于罕见异常对AML疾病，进展和预后的贡献的知识是有限的。在这里，我们报告了一个独特的急性单细胞白血病病例，其获益为i（5）（p10），四体性8，不平衡易位der（19）t（17; 19）（q23; p13.3）和NPM1突变。结果通过常规核型分析，荧光原位杂交（FISH）和突变分析对骨髓细胞进行了诊断和随访。在诊断时，我们检测到三体性8，一个不平衡的易位der（19）t（17; 19）（q23; p13.3）和NPM1突变。在疾病过程中，我们观察到克隆进化，获得i（5）（p10），四体8和最终重复der（19）t（17; 19）（q23; p13.3）。通过使用der（19）t（17; 19）作为克隆标记，我们发现i（5）（p10）和四体性8是继发性遗传事件，四体性8已从三体性8克隆进化。单原发性白血病表现出罕见的染色体异常，包括迄今为止尚未在AML中报道的不平衡易位der（19）t（17; 19）（q23; p13.3）。此外，我们的案例支持在AML中从8三体到8三体逐步克隆进化的假说。报告和收集罕见的染色体异常数据将为AML疾病，进展和预后增加信息，并最终可能改善患者的管理。

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