Comparative Characteristics of Abnormal Karyotypes in Secondary Acute Leukemia

Pub Date : 2024-07-23 DOI:10.3103/s0095452724040029
S. V. Andreieva, K. V. Korets, O. M. Tsyapka, I. M. Skorokhod
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Abstract

Abstract—

The analysis of quantitative and structural chromosome abnormalities in the bone marrow cells of 11 patients with secondary neoplasms of hematopoietic and lymphoid tissues was carried out. The abnormal karyotypes were established in all cases and evolution of clonal chromosome abnormalities in 27.3%. Despite different primary nosological groups of neoplasms of hematopoietic and lymphoid tissues and different therapy regimens, the presence of quantitative and structural chromosomal instability was typical for all cases; they led to complex (72.7%), unbalanced karyotypes (81.8%), among which composite (54.5%) and monosomal (36.4%) ones were identified. A total number of structural and quantitative chromosome abnormalities ranged from 1 to 13 in one karyotype. The chromosomes 11 and 22 were more often involved in the quantitative and structural rearrangements. Among the types of structural rearrangements, balanced and unbalanced translocations, deletions, inversions, isochromosomes, additional material of unknown origin, and derivatives of the chromosomes formed as a result of unidentified rearrangements were detected; among them, deletions (20.0%) and translocations (14.3%) prevailed. Marker chromosomes were found in 37.1% that were registered against the background of monosomies, deletions in 28.3%, and ring chromosomes in 5.7%. In two cases (after immunosuppressive or targeted therapy), the stages of development of complications of clonal chromosome abnormalities were proposed based on the similarity of the structure of quantitative and structural abnormalities: at the first stage, a balanced translocation occurs; at the second, a quantitative anomaly (chromosome trisomy) is added; at the third, an unbalanced structural rearrangement. Each karyotype contained quantitative and/or structural chromosome abnormalities that belonged to the group of unfavorable cytogenetic prognosis.

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继发性急性白血病异常核型的比较特征
摘要 对11名造血和淋巴组织继发性肿瘤患者骨髓细胞中染色体数量和结构异常进行了分析。所有病例的核型均异常,27.3%的病例出现克隆染色体异常。尽管造血和淋巴组织肿瘤的原发组别不同,治疗方案也不同,但所有病例都存在典型的染色体数量和结构不稳定性;它们导致复杂(72.7%)、不平衡(81.8%)的核型,其中发现了复合核型(54.5%)和单体核型(36.4%)。在一个核型中,染色体结构和数量异常的总数从 1 到 13 不等。在定量和结构重排中,11 号和 22 号染色体更常见。在结构重排的类型中,发现了平衡和不平衡易位、缺失、倒位、同染色单体、来源不明的附加物质以及因不明重排而形成的染色体衍生物;其中以缺失(20.0%)和易位(14.3%)为主。在单体背景下发现的标记染色体占 37.1%,缺失占 28.3%,环状染色体占 5.7%。在两个病例(免疫抑制或靶向治疗后)中,根据数量和结构异常结构的相似性,提出了克隆染色体异常并发症的发展阶段:在第一阶段,出现平衡易位;在第二阶段,增加数量异常(染色体三体);在第三阶段,出现不平衡结构重排。每个核型都包含属于细胞遗传学预后不良组的染色体数量和/或结构异常。
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