Mutational Analysis of Extranodal NK/T-Cell Lymphoma Using Targeted Sequencing with a Comprehensive Cancer Panel
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 pathoge...
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doaj-5b7c70c5d7104fa1a90e8f7a3f102fbe2020-11-25T01:52:37ZengKorea Genome OrganizationGenomics & Informatics1598-866X2234-07422016-09-01143788410.5808/GI.2016.14.3.78194Mutational Analysis of Extranodal NK/T-Cell Lymphoma Using Targeted Sequencing with a Comprehensive Cancer PanelSeungkyu Choi0Jai Hyang Go1Eun Kyung Kim2Hojung Lee3Won Mi Lee4Chun-Sung Cho5Kyudong Han6Department of Pathology, Dankook University College of Medicine, Cheonan 31116, Korea.Department of Pathology, Dankook University College of Medicine, Cheonan 31116, Korea.Department of Pathology, Eulji Medical Center, Eulji University School of Medicine, Seoul 01830, Korea.Department of Pathology, Eulji Medical Center, Eulji University School of Medicine, Seoul 01830, Korea.Department of Pathology, Eulji Medical Center, Eulji University School of Medicine, Seoul 01830, Korea.Department of Neurosurgery, Dankook University College of Medicine, Cheonan 31116, Korea.Department of Nanobiomedical Science, BK21 PLUS NBM Global Research Center for Regenerative Medicine, Dankook University, Cheonan 31116, Korea.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.http://genominfo.org/upload/pdf/gni-14-78.pdfARID1Adeep sequencinghigh-throughput DNA sequencingKMT2DTP53 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Seungkyu Choi Jai Hyang Go Eun Kyung Kim Hojung Lee Won Mi Lee Chun-Sung Cho Kyudong Han |
spellingShingle |
Seungkyu Choi Jai Hyang Go Eun Kyung Kim Hojung Lee Won Mi Lee Chun-Sung Cho Kyudong Han Mutational Analysis of Extranodal NK/T-Cell Lymphoma Using Targeted Sequencing with a Comprehensive Cancer Panel Genomics & Informatics ARID1A deep sequencing high-throughput DNA sequencing KMT2D TP53 |
author_facet |
Seungkyu Choi Jai Hyang Go Eun Kyung Kim Hojung Lee Won Mi Lee Chun-Sung Cho Kyudong Han |
author_sort |
Seungkyu Choi |
title |
Mutational Analysis of Extranodal NK/T-Cell Lymphoma Using Targeted Sequencing with a Comprehensive Cancer Panel |
title_short |
Mutational Analysis of Extranodal NK/T-Cell Lymphoma Using Targeted Sequencing with a Comprehensive Cancer Panel |
title_full |
Mutational Analysis of Extranodal NK/T-Cell Lymphoma Using Targeted Sequencing with a Comprehensive Cancer Panel |
title_fullStr |
Mutational Analysis of Extranodal NK/T-Cell Lymphoma Using Targeted Sequencing with a Comprehensive Cancer Panel |
title_full_unstemmed |
Mutational Analysis of Extranodal NK/T-Cell Lymphoma Using Targeted Sequencing with a Comprehensive Cancer Panel |
title_sort |
mutational analysis of extranodal nk/t-cell lymphoma using targeted sequencing with a comprehensive cancer panel |
publisher |
Korea Genome Organization |
series |
Genomics & Informatics |
issn |
1598-866X 2234-0742 |
publishDate |
2016-09-01 |
description |
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. |
topic |
ARID1A deep sequencing high-throughput DNA sequencing KMT2D TP53 |
url |
http://genominfo.org/upload/pdf/gni-14-78.pdf |
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