Genomics & Informatics

Korea Genome Organization (한국유전체학회)
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Mutational Analysis of Extranodal NK/T-Cell Lymphoma Using Targeted Sequencing with a Comprehensive Cancer Panel

  • Choi, Seungkyu (Department of Pathology, Dankook University College of Medicine) ;
  • Go, Jai Hyang (Department of Pathology, Dankook University College of Medicine) ;
  • Kim, Eun Kyung (Department of Pathology, Eulji Medical Center, Eulji University School of Medicine) ;
  • Lee, Hojung (Department of Pathology, Eulji Medical Center, Eulji University School of Medicine) ;
  • Lee, Won Mi (Department of Pathology, Eulji Medical Center, Eulji University School of Medicine) ;
  • Cho, Chun-Sung (Department of Neurosurgery, Dankook University College of Medicine) ;
  • Han, Kyudong (Department of Nanobiomedical Science, BK21 PLUS NBM Global Research Center for Regenerative Medicine, Dankook University)
  • Received : 2016.08.01
  • Accepted : 2016.08.11
  • Published : 2016.09.30
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Abstract

Extranodal natural killer (NK)/T-cell lymphoma, nasal type (NKTCL), is a malignant disorder of cytotoxic lymphocytes of NK or T cells. It is an aggressive neoplasm with a very poor prognosis. Although extranodal NKTCL reportedly has a strong association with Epstein-Barr virus, the molecular pathogenesis of NKTCL has been unexplored. The recent technological advancements in next-generation sequencing (NGS) have made DNA sequencing cost- and time-effective, with more reliable results. Using the Ion Proton Comprehensive Cancer Panel, we sequenced 409 cancer-related genes to identify somatic mutations in five NKTCL tissue samples. The sequencing analysis detected 25 mutations in 21 genes. Among them, KMT2D, a histone modification-related gene, was the most frequently mutated gene (four of the five cases). This result was consistent with recent NGS studies that have suggested KMT2D as a novel driver gene in NKTCL. Mutations were also found in ARID1A, a chromatin remodeling gene, and TP53, which also recurred in recent NGS studies. We also found mutations in 18 novel candidate genes, with molecular functions that were potentially implicated in cancer development. We suggest that these genes may result in multiple oncogenic events and may be used as potential bio-markers of NKTCL in the future.

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References

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