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

Diagnostic Pathology: Open Access
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Review Article

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

Jiaqi Liu1,2,3#, Linqian Weng4#, Yue Ming5#, Sen Liu1,2, Nan Wu1,2*, Zhihong Wu1,2*

1Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, PR China

2Beijing Key Laboratory for Genetic Research of Bone and Joint Disease, Beijing, PR China

3Department of Breast Surgical Oncology, Cancer Hospital of Chinese Academy of Medical Sciences, Beijing, PR China

4Peking Union Medical College, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, PR China

5The PET-CT Center, Cancer Hospital of Chinese Academy of Medical Sciences, Beijing, PR China

#These authors have contributed equally to this work

*Corresponding Author:
Nan Wu
Department of Orthopaedic Surgery
Peking Union Medical College Hospital
Peking Union Medical College and Chinese Academy of Medical Sciences
Beijing Key Laboratory for Genetic Research of Skeletal Deformity
No.1 Shuaifuyuan, Dongcheng District
Beijing 100730, PR China
Tel: +8601069156081
E-mail: dr.wunan@pumch.cn

Zhihong Wu
Beijing Key Laboratory for Genetic Research of Skeletal Deformity
Department of Central Laboratory
Peking Union Medical College Hospital
Peking Union Medical College and Chinese Academy of Medical Sciences
No.1 Shuaifuyuan, Dongcheng District, Beijing 100730, PR China
Tel: +8601069156081
Fax: +8601069156081
E-mail: orthoscience@126.com

Received Date: January 02, 2016; Accepted Date: February 20, 2016; Published Date: February 26, 2016

Citation: Liu J, Weng L, Ming Y, Yin B, Liu S, et al. (2016) Fusion Genes and Their Detection through Next Generation Sequencing in Malignant Hematological Diseases and Solid Tumors. Diagn Pathol Open 1:108. doi: 10.4172/2476-2024.1000108

Copyright: © 2016 Liu J, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

 

Abstract

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.

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