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Genetic alterations of NK/T-cell lymphoma

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Authors
박하영
Advisor
김종일
Major
의과대학 의과학과
Issue Date
2017-02
Publisher
서울대학교 대학원
Keywords
extranodal NK/T-cell lymphoma nasal typenext-generation sequencingJAK-STAT pathwaychromatin modificationsomatic mutationtranscriptome
Description
학위논문 (박사)-- 서울대학교 대학원 : 의과학과, 2017. 2. 김종일.
Abstract
Introduction: Extranodal NK/T-cell lymphoma nasal type (ENKL) is a rare type of non-Hodgkin lymphoma that more frequently occurs in East Asia and Latin America. Even though its molecular background has been discussed in the last few years, the current knowledge does not explain the disease pathogenesis in most cases of ENKL.

Methods: To investigate the ENKL-specific genetic variants, we performed multiple types of next-generation sequencing on 34 ENKL samples, including whole-exome sequencing (9 cancer tissues and 4 cancer cell lines), targeted sequencing (21 cancer tissues), and RNA sequencing (3 cancer tissues and 4 cancer cell lines).

Results: Mutations were found most frequently in 3 genes, STAT3, BCOR, and MLL2 (which were present in 9, 7, and 6 cancer samples, respectively), whereas there were only 2 cases of JAK3 mutation. In total, JAK/STAT pathway- and histone modification-related genes accounted for 55.9% and 38.2% of cancer samples, respectively, and their involvement in ENKL pathogenesis was also supported by gene expression analysis. In addition, we provided 177 genes upregulated only in cancer tissues, which appear to be linked with angiocentric and angiodestructive growth of ENKL.

Conclusions: In this study, we propose several novel driver genes of ENKL, and show that these genes and their functional groups may be future therapeutic targets of this disease.
Language
English
URI
https://hdl.handle.net/10371/122338
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College of Medicine/School of Medicine (의과대학/대학원)Dept. of Biomedical Sciences (대학원 의과학과)Theses (Ph.D. / Sc.D._의과학과)
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