Patologia Diagnóstica: Acesso Aberto

Abstrato

Fusion Genes and their Detection through Next Generation Sequencing in Malignant Hematological Disease and Solid Tumors

Jiaqi Liu, Linqian Weng, Yue Ming, Bo Yin, Sen Liu, Nan Wu and Zhihong Wu

Fusion genes are neoplasia-associated mutations, which play a particularly significant role in tumorgenesis and exhibits great importance for clinical applications in malignant hematological disease and solid tumors. Simultaneously with CNVs, gene fusions are resulting from balanced and unbalanced chromosomal rearrangements. Thus, understanding the mutagenesis and instability of CNV, as well as the underlying molecular mechanisms of chromosomal rearrangements will improve our comprehension of gene fusions. Recently, next generation sequencing (NGS), especially RNA-Seq, has become very useful tools to identify gene alterations in cancer and a powerful approach for investigating the tumorgenesis. While we are still faced with the challenge of minimizing false positives in RNA-seq result. WGS is also pervasively used for the fusion gene detection, which provides us a more comprehensive and integrative way to detect structural variants. And WGS may correct the false-negative results from RNA-seq. Additionally, many computational tools have also been developed for the detection of fusion transcripts using RNA-Seq data, while developing a more sensitivity and specificity fusion genes detection tools for NGS datas remains an important and open question. In future, multi-omics analysis, thirdgeneration sequencing and liquid biopsies technique all provides opportunities to comprehensively interpret gene fusions and understand the biology of cancer genomes.