Balla Beata, Tripon Florin, Candea Marcela, Banescu Claudia
Department of Medical Genetics, George Emil Palade University of Medicine, Pharmacy, Science and Technology of Targu Mures, 540139 Targu Mures, Romania.
Center for Advanced Medical and Pharmaceutical Research, Genetics Laboratory, George Emil Palade University of Medicine, Pharmacy, Science and Technology of Targu Mures, 540139 Targu Mures, Romania.
J Pers Med. 2023 Aug 9;13(8):1239. doi: 10.3390/jpm13081239.
Chronic lymphocytic leukemia (CLL) is known for its wide-ranging clinical and genetic diversity. The study aimed to assess the associations between copy number variations (CNVs) and various biological and clinical features, as well as the survival rates of CLL patients and to evaluate the effectiveness of the multiplex ligation-dependent probe amplification (MLPA) technique in CLL patients.DNA was extracted from 110 patients, and MLPA was performed. Mutations in , , and were also analyzed. A total of 52 patients showed at least one CNV, 26 had at least one somatic mutation, and 10 presented both, CNVs, and somatic mutations. The most commonly identified CNVs were del(114.3), del(11q22.3), and dup(12q23.2). Other CNVs identified included del(17p13.1), del(14q32.33), dup(10q23.31), and del(19p13.2). One patient was identified with concomitant trisomy 12, 13, and 19. and mutations were found in 13 patients each, either alone or in combination with other mutations or CNVs, while mutation was identified in one patient. Forty-two patients had normal results. Associations between the investigated CNVs and gene mutations and patients' overall survival were found. The presence of and mutations or the combination of mutation and CNVs significantly influenced the survival of patients with CLL. Both mutations are frequently associated with different CNVs. Del(13q) is associated with the longest survival rate, while the shortest survival is found in patients with del(17p). Even if MLPA has constraints, it may be used as the primary routine analysis in patients with CLL.
慢性淋巴细胞白血病（CLL）以其广泛的临床和基因多样性而闻名。该研究旨在评估拷贝数变异（CNV）与各种生物学和临床特征之间的关联，以及CLL患者的生存率，并评估多重连接依赖探针扩增（MLPA）技术在CLL患者中的有效性。从110例患者中提取DNA，并进行MLPA。还分析了 、 和 的突变情况。共有52例患者显示至少一种CNV，26例有至少一种体细胞突变，10例同时存在CNV和体细胞突变。最常鉴定出的CNV是del(11q4.3)、del(11q22.3)和dup(12q23.2)。鉴定出的其他CNV包括del(17p13.1)、del(14q32.33)、dup(10q23.31)和del(19p13.2)。一名患者被鉴定为同时存在12号、13号和19号染色体三体。 和 突变分别在13例患者中发现，可单独存在或与其他突变或CNV合并存在，而 突变在1例患者中被鉴定出。42例患者结果正常。研究发现所调查的CNV和基因突变与患者的总生存率之间存在关联。 和 突变的存在或 突变与CNV的组合显著影响CLL患者的生存。这两种突变都经常与不同的CNV相关。Del(13q)与最长的生存率相关，而del(17p)患者的生存率最短。即使MLPA有局限性，它也可作为CLL患者的主要常规分析方法。
