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( Youngil Koh ),( Hyun Jung Lee ),( Kwang Sung Ahn ),( Young Wook Kim ),( Jong Sun Jung ),( Hyung Lae Kim ),( Jung Whan Yook ),( Hyun Kyung Park ),( Keunchil Park ),( Sung Soo Yoon ) 대한내과학회 2014 대한내과학회 추계학술대회 Vol.2014 No.1
Background: Current cancer research using massive parallel sequencing technologies primarily focuses on somatic changes in the cancer genome. However, it is anticipated that individual germline variations might contribute to tumorigenesis, as exemplified by several well-known examples, such as BRCA2 variations in breast cancer. Thus, it is also important to explore crosstalk between germline variation and somatic mutation in cancer. Methods: We performed whole-exome sequencing (WES) of 80 acute myeloid leukemia (AML) samples and 180 non-small cell lung cancer (NSCLC) samples. First, we searched for cancer hotspots in germline DNA of these samples. Also, we called somatic variants using in-house pipeline Adiscan. Germline hotspot alteration was validated in a separate AML cohort. Results: Non-synonymous changes including MLH1 (Chr3;37067240, T>A), KIT (Chr4;55593464, A>T), and MET (Chr 7;116340262, A>C) were observed in germline of both AML and NSCLC patients. MLH1 germline change was not found in 18 healthy control samples. Frequency of MLH1, KIT, and MET germline changes were similar in AML and NSCLC patients. In contrast to AML, some of NSCLC patients had PTEN, TP53 and STK11 germline changes. When we focused on the crosstalk between germline change and somatic mutation, MET germline alteration seemed to have coupling with IDH2 somatic mutation, while MLH1 germline mutation seemd to have coupling with TTN somatic mutation. When validated in a separate cohort, AML patients with MET germline mutation had good prognosis compred to MET wild-types suggesting prognostic impact of MET germline alteration. Conclusions: Cancer hotspot variations are present in germline of cancer patients, and their frequency might be different across various cancer subtypes. Germline alteration per se may have prognostic impact, and coupling between certain germline alteration and somatic mutation would exist.
Eltrombopag for Post-Transplant Poor Graft Function in East Asian Patients
Ahn Hyun Jin,Byun Ja Min,Kim Inho,Youk Jeonghwan,Koh Youngil,Shin Dong-Yeop,Hong Junshik,Yoon Sung-Soo 대한의학회 2022 Journal of Korean medical science Vol.37 No.6
Poor graft function (PGF) is a serious, potentially life-threatening complication of allogeneic hematopoietic stem cell transplantation. Eltrombopag has shown multilineage responses in patients with refractory severe aplastic anemia, supporting the idea that it may improve cytopenia in patients with PGF. This retrospective, single center analysis included 8 Korean patients receiving eltrombopag for PGF. Median interval between transplant and eltrombopag treatment was 73 days, and the median duration treatment was 3.5 weeks. With median maximum daily dose of 50 mg, the time to best response was 93 days. Median hemoglobin increased from 8.2 g/dL to 10.9 g/dL, platelet from 18.5 × 109 /L to 54 × 109 /L, and absolute neutrophil count from 1.25 × 109 /L to 3.32 × 109 /L. In conclusion, eltrombopag is a good option for PGF in Korean patients, even at a lower dose compared to western patients.
육정환,Youngil Koh,Ji-Won Kim,Dae-Yoon Kim,Hyunkyung Park,Woo June Jung,Kwang-Sung Ahn,윤홍석,Inho Park,Choong-Hyun Sun,Seungmook Lee,Sung-Soo Yoon 대한혈액학회 2016 Blood Research Vol.51 No.1
BackgroundMast cell leukemia (MCL) is the most aggressive form of systemic mastocytosis disorders. Owing to its rarity, neither pathogenesis nor standard treatment is established for this orphan disease. Hence, we tried to treat a patient with MCL based on the exome and tran-scriptome sequencing results of the patient’s own DNA and RNA.MethodsFirst, tumor DNA and RNA were extracted from bone marrow at the time of diagnosis. Germline DNA was extracted from the patient’s saliva 45 days after induction chemo-therapy and used as a control. Then, we performed whole-exome sequencing (WES) using the DNA and whole transcriptome sequencing (WTS) using the RNA. Single nucleotide variants (SNVs) were called using MuTect and GATK. Samtools, FusionMap, and Gene Set Enrichment Analysis were utilized to analyze WTS results.ResultsWES and WTS results revealed mutation in KIT S476I. Fusion analysis was performed using WTS data, which suggested a possible RAR-B2M fusion. When RNA expression analysis was performed using WTS data, upregulation of PIK3/AKT pathway, downstream of KIT and mTOR, was observed. Based on our WES and WTS results, we first administered all-trans retinoic acid, then dasatinib, and finally, an mTOR inhibitor.ConclusionWe present a case of orphan disease where we used a targeted approach using WES and WTS data of the patient. Even though our treatment was not successful, use of our ap-proach warrants further validation.
세종시 소재 일개 요양병원내 한방치료의 현황 및 만족도 분석 연구
안재학,김영일 大田大學校 附屬 韓方病院 2018 惠和醫學 Vol.27 No.1
Objectives : The purpose of this study was to analyze the status of inpatients hospital and the satisfaction of Korean medical treatment. Methods : These a nina lylzoendg -dtaetram wcearree tcoo llDecetce. d3 f1r.o m20 1p7at. ieTnots awnahloy zwe etrhee hsotsaptuitsa liaznedd tinh el osnagt-istfeacrmtio nc aroef ihnopsaptiiteanl tsin, wSeej ocnaglc ufrloatme dJ atnh.e 1d. a2ta0 1o7f ipnrpeafetireenntcse afnodr cnounmdbuectresd oaf Ksuorrveeayn. mReedsiuclatsl t:r ePartemfeenret nmceo rfeo rt haacnu ptuwnoc tutrime etsr epaetmr ewnte ewk aws a9s5 .460%% .a nInd tardedaittmioenn, t cwonafsi d4e.n0c7e ainnd Kgeonreearanl smaetidsifcaacl tiotnre awtmase n4t .5w8 aws it4h .3f1iv, e-impopirnotv esmcaelnet. Cafotnecrl usKioonres an: Mmoesdti coafl the patients in long-term care hospital were satisfied with Korean medical treatment.
Koh, Youngil,Jung, Woo-June,Ahn, Kwang-Sung,Yoon, Sung-Soo Hindawi Publishing Corporation 2014 BioMed research international Vol.2014 No.-
<P><I>Purpose.</I> We tried to establish clinically relevant human myeloma cell lines that can contribute to the understanding of multiple myeloma (MM). <I>Materials and Methods.</I> Mononuclear cells obtained from MM patient's bone marrow were injected via tail vein in an NRG/SCID mouse. Fourteen weeks after the injection, tumor developed at subcutis of the mouse. The engraftment of MM cells into mouse bone marrow (BM) was also observed. We separated and cultured cells from subcutis and BM. <I>Results.</I> After the separation and culture of cells from subcutis and BM, we established two cell lines originating from a single patient (SNU_MM1393_BM and SNU_MM1393_SC). Karyotype of the two newly established MM cell lines showed tetraploidy which is different from the karyotype of the patient (diploidy) indicating clonal evolution. In contrast to SNU_MM1393_BM, cell proliferation of SNU_MM1393_SC was IL-6 independent. SNU_MM1393_BM and SNU_MM1393_SC showed high degree of resistance against bortezomib compared to U266 cell line. SNU_MM1393_BM had the greater lethality compared to SNU_MM1393_SC. <I>Conclusion.</I> Two cell lines harboring different site tropisms established from a single patient showed differences in cytokine response and lethality. Our newly established cell lines could be used as a tool to understand the biology of multiple myeloma.</P>