RNA-sequencing: A reliable tool to unveil transcriptional landscape of paediatric B-other acute lymphoblastic leukaemia.

IF 5.1 2区 医学 Q1 HEMATOLOGY
Clara Vicente-Garcés, Guerau Fernández, Elena Esperanza-Cebollada, Mercè Richarte-Franqués, Alba Crespo-Carrasco, Sara Montesdeoca, Ignacio Isola, Edurne Sarrate, Esther Cuatrecasas, Susana Rives, José Luis Dapena, Mireia Camós, Nerea Vega-García
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引用次数: 0

Abstract

B-cell precursor acute lymphoblastic leukaemia (BCP-ALL) comprises multiple subtypes characterized by different genetic alterations. With the use of current standard-of-care tests used in clinical practice, 20%-30% of the cases may not be classified into the main genetic subtypes and additional approaches are needed. These patients are grouped in the heterogeneous category B-other ALL. Transcriptome sequencing (RNA-seq) has allowed the identification of novel fusion genes and gene expression profiles that define new molecular subtypes. We present RNA-seq results integrated, in a real-world scenario, with clinical routine diagnostic data to identify new biomarkers and reclassify a cohort of 60 B-other ALL patients in the newly described genetic subtypes. Overall, 49 rearrangements were identified, including 32 different fusion genes in 41 B-other patients (68%). Moreover, we reported six novel rearrangements (IGK::PAX5, PAX5::IL1RAPL1, ETV6::KRT78, IGH::HIC1, IGH::MIR100HG and NKAIN4::PNPLA7). The integration of RNA-seq results with standard-of-care data allowed us to classify 72% of the patients (43/60) in 11 different subtypes, being DUX4 rearranged and PAX5alt the most represented subtypes. In summary, RNA-seq is a reliable tool for the identification of new emerging genetic subtypes contributing to a better genetic risk stratification of BCP-ALL paediatric patients on the path towards a more personalized medicine.

rna测序:揭示儿童B-other急性淋巴细胞白血病转录景观的可靠工具。
b细胞前体急性淋巴细胞白血病(BCP-ALL)包括以不同遗传改变为特征的多种亚型。如果在临床实践中使用目前的标准护理检测,20%-30%的病例可能无法划分为主要的遗传亚型,因此需要采用其他方法。这些患者被归为异质性B-other ALL。转录组测序(RNA-seq)允许鉴定新的融合基因和基因表达谱,定义新的分子亚型。我们将RNA-seq结果与临床常规诊断数据整合在一起,以确定新的生物标志物,并对新描述的遗传亚型的60例B-other ALL患者进行重新分类。总体而言,鉴定出49个重排,包括41个B-other患者(68%)的32个不同的融合基因。此外,我们还报道了6个新的重排(IGK::PAX5, PAX5::IL1RAPL1, ETV6::KRT78, IGH::HIC1, IGH::MIR100HG和NKAIN4::PNPLA7)。RNA-seq结果与标准护理数据的整合使我们能够将72%的患者(43/60)分为11种不同的亚型,其中DUX4重排和PAX5alt是最具代表性的亚型。总之,RNA-seq是鉴定新出现的遗传亚型的可靠工具,有助于更好地对BCP-ALL儿科患者进行遗传风险分层,从而实现更个性化的医疗。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
8.60
自引率
4.60%
发文量
565
审稿时长
1 months
期刊介绍: The British Journal of Haematology publishes original research papers in clinical, laboratory and experimental haematology. The Journal also features annotations, reviews, short reports, images in haematology and Letters to the Editor.
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