Tumor Type

South Korea
Blood Cancer - Acute myeloid leukaemia
Acute myeloid leukaemia  HTML
Project Profile
Funding Organizations
Research Organizations
Research Activities
Publication Policy

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Clinic & Pathology

South Korea: Seoul National University Hospital
ASAN Medical Center
Samsung Medical Center

Our research group (Blood Cancer Genome (BCG)) is funded by the government, PGM21, Korea. The center’s main interest is to understand the molecular pathology involved in the progression of hematologic malignancies. We try to identify driving somatic mutations in the progression of hematologic malignancies using various techniques including next-generation sequencing.

1) Genetic association study team led by Prof. SS Yoon (Chairperson).
2) Genetic association (Identify somatic mutations and bioinformatic analysis) study of acute myeloid leukemia led by Prof. JH Lee, Prof. JH Jang.
3) Molecular pathology led by Prof. DS Lee.
4) Molecular work led by Prof. KS Ahn.

Sequencing & Analysis

South Korea: DNA Link

Whole Exome Sequencing facility is provided by DNAlink.Co.
Bioinformatic analysis of whole exome sequencing data is provided by Syntekabio.Co.

Complementary Studies

South Korea: SNP Genetics

Genetic association (Identify SNP and bioinformatic analysis) study of acute myeloid leukemia led by Prof. YD Shin.

Data Storage, Analysis & Management

South Korea: The National Project for Personalized Genomic Medicine
Blood Cancer Genome

Our data is stored in Blood Cancer Genome (BCG) server (homepage: http://www.bcg.or.kr). In addition, we share our data with PGM21 group which is the funding body of our sequencing experiments.

Project Summary

Acute myeloid leukemia (AML) is a molecularly and clinically heterogeneous disease. AML karyotype has been important in predicting prognosis, with patients falling into good, intermediate, and poor risk groups. However, prognostic role of karyotyic abnormalities has been unsatisfactory due to several reasons such as technical problems and absence of karyotypic abnormalities in almost half of AML patients (normal karyotype AML, NK-AML). Hence, molecular markers have been actively investigated in an effort to better classify AML patients. Although not satisfactory, the most relevant gene alterations include NPM1 gene mutations, internal tandem duplications (ITD) or tyrosine kinase domain (TKD) mutations of the FLT3 gene, CEBPA gene mutations, and partial tandem duplications (PTD) of the MLL gene, as well as mutations in the NRAS and WT1 genes. These genetic alterations have also been found to be useful as a potential prognostic marker. Among these, NPM1 mutations and biallelic CEBPA mutations are likely to be primary genetic events, as shown by their specificity for AML, high degree of stability at relapse, mutual exclusion of other recurrent cytogenetic abnormalities, expression in leukemic stem cells and unique gene expression signatures. Next-generation sequencing studies of NK-AML allowed to the identification of new mutations such as IDH1, IDH2, and DNMT3A genes. These findings help us to understand molecular pathology of acute myeloid leukemia. However the roles of those mutations in the progression of acute myeloid leukemia are still obscured. To identify driving somatic mutations associated with AML progression, we selected constitutive AML bone marrow samples obtained from AML patients under chemotherapy. To address this issue, we used in-solution exome capture followed by massively parallel sequencing. The study is designed to examine the molecular abnormalities of leukemic cells at initial diagnosis and at relapse in comparison with paired normal hematopoietic cells at the time of complete remission. Our study will elucidate the mechanisms of disease progression and help identifying therapeutic targets.

Principal Investigators

Sung-Soo Yoon, MD.Ph.D.

Lead Jurisdiction