Chronic lymphocytic leukemia (CLL) is the most common form of adult leukemia. This disease is genetically heterogeneous, and approximately 85% of patients with CLL harbor chromosomal aberrations that are considered effective prognostic biomarkers. The most frequent aberrations include deletions in 13q14, followed by trisomy 12, and deletions in 11q22.3 and 17p13 (TP53). Currently, fluorescence in situ hybridization (FISH) is the most widely used molecular cytogenetic technique to detect these aberrations. However, FISH is laborious, time-consuming, expensive, and has a low throughput. In contrast, multiplex ligation-dependent probe amplification (MLPA) is a reliable, cost-effective, and relatively rapid technique that can be used as a first-line screening tool and complement with FISH analysis. This study aimed to evaluate the contributions of MLPA as a routine standalone screening platform for recurrent chromosomal aberrations in CLL in comparison to other procedures. Thirty patients with CLL were screened for the most common genomic aberrations using MLPA with SALSA MLPA probemix P038-B1 CLL and FISH. In 24 of the 30 cases (80%), the MLPA and FISH results were concordant. Discordant results were attributed to a low percentage of mosaicism. Moreover, the MLPA probemix contains probes that target other genomic areas known to be linked to CLL in addition to those targeting common recurrent CLL aberrations. The usage of MLPA as the first screening platform followed by FISH technique for only the negative cases is the most appropriate approach for CLL diagnosis and prognosis.

中文翻译：

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MLPA 作为检测埃及患者慢性淋巴细胞白血病细胞遗传学标志物的综合分子细胞遗传学工具的评价

慢性淋巴细胞白血病 (CLL) 是成人白血病中最常见的形式。这种疾病具有遗传异质性，大约 85% 的 CLL 患者存在被认为是有效预后生物标志物的染色体畸变。最常见的畸变包括 13q14 缺失，其次是 12 三体，以及 11q22.3 和 17p13 (TP53) 缺失。目前，荧光原位杂交 (FISH) 是检测这些畸变的最广泛使用的分子细胞遗传学技术。然而，FISH费力、费时、昂贵且吞吐量低。相比之下，多重连接依赖性探针扩增 (MLPA) 是一种可靠、经济高效且相对快速的技术，可用作一线筛选工具并与 FISH 分析相辅相成。本研究旨在评估 MLPA 作为常规独立筛查平台对 CLL 复发性染色体畸变的贡献，与其他程序相比。使用 MLPA 和 SALSA MLPA 探针混合物 P038-B1 CLL 和 FISH，对 30 名 CLL 患者进行了最常见的基因组畸变筛查。在 30 例中的​​ 24 例 (80%) 中，MLPA 和 FISH 结果一致。不一致的结果归因于低嵌合百分比。此外，MLPA 探针混合物包含靶向已知与 CLL 相关的其他基因组区域的探针，以及针对常见复发性 CLL 畸变的探针。使用 MLPA 作为第一个筛选平台，然后仅对阴性病例使用 FISH 技术是 CLL 诊断和预后的最合适方法。