Chicano María, Carbonell Diego, Suárez-González Julia, Lois Sergio, Ballesteros-Culebras Mercedes, Andrés-Zayas Cristina, Muñiz Paula, Rodríguez-Macias Gabriela, Bastos-Oreiro Mariana, Font Patricia, Ballesteros Mónica, Kwon Mi, Anguita Javier, Díez-Martín José Luis, Buño Ismael, Martínez-Laperche Carolina
Department of Hematology, Gregorio Marañón General University Hospital, 28009 Madrid, Spain.
Gregorio Marañón Health Research Institute (IiSGM), 28009 Madrid, Spain.
Cancers (Basel). 2021 Jun 15;13(12):3001. doi: 10.3390/cancers13123001.
Conventional cytogenetics are the gold standard for the identification of chromosomal alterations recurrent in myeloid neoplasms. Some next-generation sequencing (NGS) panels are designed for the detection of copy number variations (CNV) or translocations; however, their use is far from being widespread. Here we report on the results of a commercial panel including frequent mutations, CNVs and translocations in myeloid neoplasms. Frequent chromosomal alterations were analyzed by NGS in 135 patients with myeloid neoplasms and three with acute lymphoblastic leukemia. NGS analysis was performed using the enrichment-capture Myeloid Neoplasm-GeneSGKit (Sistemas Genómicos, Spain) gene panel including 35 genes for mutational analysis and frequent CNVs and translocations. NGS results were validated with cytogenetics and/or MLPA when possible. A total of 66 frequent alterations included in NGS panel were detected, 48 of them detected by NGS and cytogenetics. Ten of them were observed only by cytogenetics (mainly trisomy 8), and another eight only by NGS (mainly deletion of 12p). Aside from this, 38 secondary CNVs were detected in any of the genes included mainly for mutational analysis. NGS represents a reliable complementary source of information for the analysis of CNVs and translocations. Moreover, NGS could be a useful tool for the detection of alterations not observed by conventional cytogenetics.
传统细胞遗传学是鉴定髓系肿瘤中常见染色体改变的金标准。一些新一代测序(NGS)检测板被设计用于检测拷贝数变异(CNV)或易位;然而,它们的使用远未普及。在此,我们报告了一个商业检测板的结果,该检测板涵盖了髓系肿瘤中常见的突变、CNV和易位。通过NGS对135例髓系肿瘤患者和3例急性淋巴细胞白血病患者的常见染色体改变进行了分析。使用富集捕获的髓系肿瘤基因SG试剂盒(西班牙Sistemas Genómicos公司)进行NGS分析,该试剂盒包含35个用于突变分析以及常见CNV和易位检测的基因。NGS结果尽可能用细胞遗传学和/或多重连接探针扩增技术(MLPA)进行验证。共检测到NGS检测板中包含的66种常见改变,其中48种通过NGS和细胞遗传学检测到。其中10种仅通过细胞遗传学观察到(主要是8号染色体三体),另外8种仅通过NGS观察到(主要是12p缺失)。除此之外,在主要用于突变分析的任何基因中还检测到38种继发性CNV。NGS是分析CNV和易位的可靠补充信息来源。此外,NGS可能是检测传统细胞遗传学未观察到的改变的有用工具。