초록

낮은 종양세포를 포함하고 있는 다발골수종 환자의 종양세포를 농축함으로 써, 양질의 유전체 데이터를 생성하였으며 이를 통해 다발골수종 재발과 관련된 유전자의특성과 유전형별 MDS 환자의 생존률 관련성등을 파악하였음. 이와 더불어 다발골수종의 치료적 전략 수립 뿐만 아니라 환자의 삶의 질 향상측면의 연구등의 다방면 연구를 수행 하였음.

(출처 : 요약서 3p)

Abstract ▼

Purpose&Contents
The goals of this research project are to discover gene mutations residing in the genome of HSC and cancer cells in MM patients, to establish genome mutational landscape map associated with MM, and to eventually develop novel therapeutic methods for the treatment of MM.

Re

Purpose&Contents
The goals of this research project are to discover gene mutations residing in the genome of HSC and cancer cells in MM patients, to establish genome mutational landscape map associated with MM, and to eventually develop novel therapeutic methods for the treatment of MM.

Results
□NGS analysis of clinical MM samples from patients.
○Sampling of HSC and MM cells at different differentiation stages.
-Sampling of HSC and MM cells at different differentiation stages by applying

FACS to clinical samples from 30 patients diagnosed with MM.
-WES data generation and processing using saliva, MM cells and HSC samples.

□bioinformatics processing and validation of NGS data of MM samples.
○gene mutation discovery by WES data analysis and validation
-Discovery of candidate causative SNVs and CNVs (amplifications and deletions) underlying various cell groups in MM based on WES analysis compared with Saliva data, and their validation by Sanger sequencing.

○Correlation analysis between gene variations and cells at different differentiation stages.
-Discovery of HSC-derived gene variations significant for MM, and MM-specific gene variations.
-Analysis of gene variations at each differentiation stage of HSC-derived cells using target deep sequencing.

□Establishment of mutational landscape map through integrated analysis between gene variations and clinical information.
○Discovery of gene mutations associated significantly with MM progression and MM oncogenesis.
-Correlation analysis between HSC-derived and MM-specific gene variations in each cell group at each differentiation stage.
:Clarification about whether HSC with gene variations could lead to MM oncogenesis during their differentiation.
-Correlation analysis between gene variations in MM and clinical characteristics of MM patients.

○Molecular functional characteristics of gene variations.
-Functional and anti-cancer response change analyses by using expression regulatory model of genes with variations in MM cell lines and MM buffycoat PDX mouse model.

Expected Contribution
-Development of novel therapeutic techniques based on genome variational landscape in MM.
-Establishment of novel therapeutic targets and diagnostic biomarkers based gene variations discovered in MM.
-Reduction in cost for diagnosis and therapeutic treatment of MM patients and for prevention of MM in society by developing novel therapeutic techniques.
-Becoming world-class leader in researches of heamatopoietic malignancy by focusing on genomics studies of Korean MM patients, in association with other research approaches.

(출처 : SUMMARY 6p)

목차 Contents

• 표지 ... 1
• 제 출 문 ... 2
• 보고서 요약서 ... 3
• 국문 요약문 ... 5
• SUMMARY ... 6
• 목차 ... 7
• 1. 연구개발과제의 개요 ... 8
• 1-1. 연구개발 목적 ... 8
• 1-2. 연구개발의 필요성 ... 8
• 1-3. 연구개발 범위 ... 10
• 2. 국내외 기술개발 현황 ... 12
• 3. 연구수행 내용 및 결과 ... 15
• 4. 목표달성도 및 관련분야 기여도 ... 22
• 4-1. 목표달성도 ... 23
• 4-2. 관련분야 기여도 ... 23
• 5. 연구결과의 활용계획 ... 23
• 6. 연구과정에서 수집한 해외과학기술정보 ... 26
• 7. 연구개발성과의 보안등급 ... 26
• 8. 국가과학기술종합정보시스템에 등록한 연구시설·장비 현황 ... 26
• 9. 연구개발과제 수행에 따른 연구실 등의 안전조치 이행실적 ... 27
• 10. 연구개발과제의 대표적 연구실적 ... 27
• 11. 기타사항 ... 28
• 12. 참고문헌 ... 29
• 별첨: 실적 증빙자료 ... 30
• 별첨: 기타 첨부서류 ... 38
• 끝페이지 ... 48