Andreieva S V, Korets K V, Ruzhinska O E, Skorokhod I M, Alkhimova O G
State Institution «Institute of Haematology and Transfusiology of NAMS of Ukraine», Kyiv 04060, Ukraine.
Government Institution "The Scientific-Practical Children's Cardiac Centre of the Ministry of Health of Ukraine" (UCCC), Kyiv 04050, Ukraine.
Exp Oncol. 2017 Jul;39(2):141-144.
The genetic mechanisms of resistance to chemotherapy in B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma (B-CLL/SLL) are not clear. We aimed to determine the peculiarities of abnormal karyotype formation in bone marrow (BM) cells and peripheral blood (PB) blast transformed B-cells in relapse of B-CLL/SLL.
Cytogenetic GTG banding technique and molecular cytogenetic in interphase cells (i-FISH) studies of BM cells and PB blast transformed B-lymphocytes were performed in 14 patients (10 males and 4 females) with B-CLL/SLL.
The results of karyotyping BM and PB cells revealed the heterogeneity of cytogenetic abnormalities in combined single nosological group of B-CLL/SLL. In PB B-cells, chromosome abnormalities related to a poor prognosis group were registered 2.5 times more often than in BM cells. Additional near tetraploid clones that occurred in 57.1% cases were the peculiar feature of BM cell karyotypes. Chromosomal rearrangements characteristic of the group of adverse cytogenetic prognosis were revealed in all cases from which in 2 cases by karyotyping BM cells, in 6 cases in PB B-cells and in 8 cases by the i-FISH method in BM cells, i.e. their detection frequency was 3 times higher in PB B-cells and 4 times higher when analyzing by i-FISH in BM cells.
Mismatch in abnormal karyotypes in BM and PB B-cells by the presence of quantitative and structural chromosomal rearrangements may be indicative of simultaneous and independent processes of abnormal clone formation in the lymph nodes and BM hematopoietic cells. Accumulation the information about previously unidentified chromosomal rearrangements in relapse of the disease may help to understand the ways of resistance formation to chemotherapy.
B细胞慢性淋巴细胞白血病/小淋巴细胞淋巴瘤（B-CLL/SLL）对化疗耐药的遗传机制尚不清楚。我们旨在确定B-CLL/SLL复发时骨髓（BM）细胞和外周血（PB）原始转化B细胞中异常核型形成的特点。
对14例（10例男性和4例女性）B-CLL/SLL患者的BM细胞和PB原始转化B淋巴细胞进行了细胞遗传学GTG显带技术和间期细胞分子细胞遗传学（i-FISH）研究。
BM和PB细胞的核型分析结果显示，B-CLL/SLL单一疾病组合中细胞遗传学异常具有异质性。在PB B细胞中，与预后不良组相关的染色体异常发生率比BM细胞高2.5倍。57.1%的病例中出现的额外近四倍体克隆是BM细胞核型的独特特征。在所有病例中均发现了细胞遗传学预后不良组特有的染色体重排，其中通过BM细胞核型分析发现2例，PB B细胞中发现6例，通过BM细胞i-FISH方法发现8例，即PB B细胞中的检测频率高3倍，BM细胞通过i-FISH分析时高4倍。
BM和PB B细胞中异常核型在数量和结构染色体重排方面的不匹配可能表明淋巴结和BM造血细胞中异常克隆形成的同时且独立的过程。积累有关疾病复发时先前未识别的染色体重排的信息可能有助于理解化疗耐药形成的方式。
