S. V. Andreieva, K. V. Korets, I. M. Skorokhod, O. M. Tsyapka, I. M. Serbin
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引用次数: 0
Abstract
Cytogenetic rearrangements were studied in bone marrow cells of 24 patients with relapse of acute lymphoblastic leukemia (ALL). The authors have noted a high percentage of mosaic karyotypes (75.0%) with a predominance of abnormal clones combined with normal karyotypes (33.3%). Trisomies of chromosomes led to the formation of hyperdiploid clones, among which trisomies of chromosomes 6, 21, 15, and 5 were the most frequent events. Additional marker chromosomes were recorded in 22.2%. To characterize the mechanisms underlying the abnormal clone formation in relapse of ALL, structural chromosomal anomalies were recorded and divided into balanced (translocations, inversions) and imbalanced (deletions, isochromosomes, additional material of unknown origin, duplications, and imbalanced translocations) abnormalities. Losses of genetic material (deletions) (24.1%) and translocations (33.3%) were most frequently detected. The total number of events with translocation t(9;22)(q34;q11.2) reached 20.4%. The evolution of clonal chromosomal abnormalities occurred due to the emergence of additional numerical and imbalanced structural abnormalities. The comparison between chromosome abnormalities at diagnosis and in relapse of B-cell ALL has not led to any general mechanisms for the formation of chemotherapy-resistant clones. Trisomy of chromosome 5, deletion del(6)(q23), and translocation t(9;22) (q34;q11.2) were involved in the formation of chemotherapy-insensitive clones. The group of unfavorable prognosis included 95.8% of karyotypes.
摘要 对 24 名急性淋巴细胞白血病（ALL）复发患者的骨髓细胞进行了细胞遗传学重排研究。作者注意到马赛克核型的比例很高（75.0%），其中以异常克隆合并正常核型为主（33.3%）。染色体三体导致超二倍体克隆的形成，其中以 6、21、15 和 5 号染色体三体最为常见。22.2%的患者出现了额外的标记染色体。为了确定 ALL 复发时异常克隆形成的机制，我们记录了染色体结构异常，并将其分为平衡异常（易位、倒位）和不平衡异常（缺失、同源染色体、来源不明的附加物质、重复和不平衡易位）。最常发现的是遗传物质缺失（缺失）（24.1%）和易位（33.3%）。发生t(9;22)(q34;q11.2)易位的病例总数占20.4%。克隆染色体异常的演变是由于出现了额外的数量和结构不平衡异常。对 B 细胞 ALL 诊断时和复发时的染色体异常进行比较，尚未发现化疗耐药克隆形成的一般机制。5号染色体三体、del(6)(q23)缺失和t(9;22)(q34;q11.2)易位参与了化疗不敏感克隆的形成。预后不良组包括95.8%的核型。
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