A5090633270- Cancer Genomics and Diagnostics
- Acute Myeloid Leukemia Research
- Lymphoma Diagnosis and Treatment
- PARP inhibition in cancer therapy
- Acute Lymphoblastic Leukemia research
- Ovarian cancer diagnosis and treatment
- Genomic variations and chromosomal abnormalities
- Chronic Lymphocytic Leukemia Research
- Chronic Myeloid Leukemia Treatments
- Lung Cancer Treatments and Mutations
- Genomics and Rare Diseases
- Renal cell carcinoma treatment
- Genetic factors in colorectal cancer
- Protein Degradation and Inhibitors
- Multiple Myeloma Research and Treatments
- BRCA gene mutations in cancer
- Renal and related cancers
- Molecular Biology Techniques and Applications
- Genetics and Neurodevelopmental Disorders
- Blood groups and transfusion
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- CRISPR and Genetic Engineering
- CNS Lymphoma Diagnosis and Treatment
- DNA Repair Mechanisms
- Immunodeficiency and Autoimmune Disorders
Yonsei University
2015-2025
Severance Hospital
2015-2025
Samsung Medical Center
2015-2023
Korea University
2023
Seoul National University Bundang Hospital
2022
Anyang University
2022
Hanyang University
2022
National Cancer Center
2016-2022
Gangnam Severance Hospital
2022
Soonchunhyang University Hospital
2022
Abstract Introduction Acute myeloid leukemia (AML) is a complex hematologic malignancy characterized by uncontrolled proliferation of precursor cells within bone marrow. Despite advances in understanding its molecular underpinnings, AML remains therapeutic challenge due to high relapse rate and clonal evolution. Methods In this retrospective study, we analyzed data from 24 patients diagnosed at single institution between January 2017 August 2023. Comprehensive genetic analyses, including...
The mechanism and medical treatment target for degenerative aortic valve disease, including stenosis, is not well studied. In this study, we investigated the effect of clonal hematopoiesis indeterminate potential (CHIP) on development sclerosis (AVS), a calcified without significant stenosis.
Abstract Circulating tumor DNA (ctDNA) may aid in personalizing ovarian cancer therapeutic options. Here, we aimed to assess the clinical utility of serial ctDNA testing using tumor-naïve, small-sized next-generation sequencing (NGS) panels. A total 296 patients, including 201 with and 95 benign or borderline disease, were enrolled. Samples collected at baseline (initial diagnosis surgery) every 3 months after that, resulting a 811 blood samples. Patients received adjuvant therapy based on...
Abstract Purpose: Patient-specific molecular alterations leading to PARP inhibitor (PARPi) resistance are relatively unexplored. In this study, we analyzed serially collected circulating tumor DNA (ctDNA) from patients with BRCA1/2 mutations who received PARPis investigate the mechanisms and their significance in postprogression treatment response survival. Experimental Design: Patients were prospectively enrolled between January 2018 December 2021 (NCT05458973). Whole-blood samples obtained...
Mutation of SLC26A4 is the most common cause prelingual hearing loss in East Asia. Patients with mutations have variable phenotypes ranging from non‐syndromic to Pendred syndrome. Here, we analyzed correlation between genotype and various inner ear found a possible underlying mechanism. This study included 111 patients bi‐allelic who had bilateral enlarged vestibular aqueduct (EVA) loss. p. H723R (61%), c.919‐ 2A >G (24%), T410M (4%) were Korean EVAs. Residual or was better than that...
The prognosis of a plasma cell neoplasm (PCN) varies depending on the presence genetic abnormalities. However, detecting sensitive mutations poses challenges due to heterogeneous nature population in bone marrow aspiration. established gold standard for sorting is fluorescence-activated (FACS), which associated with lengthy processing times, substantial quantities, and expensive equipment. Magnetic-activated (MACS) can be performed without need FACS equipment allows rapid many cells, making...
FISH is the standard method for detecting cytogenetic abnormalities (CAs) in patients with multiple myeloma, and pre-enrichment of plasma cells recommended to increase detection rates. However, optimal strategies ensure sufficient cell retrieval when enrichment techniques fail remain underexplored. We investigated factors influencing success fluorescence-activated sorting (FACS) assessed use direct cases which FACS failed. A retrospective analysis was conducted on 457 bone marrow samples...
Infection with Clostridium difficile is a growing concern because of the increasing prevalence and spread nosocomial infections. Emergence hypervirulent 027/NAP1/BI strain also notable. Existing diagnostic methods have low sensitivity or are time-consuming. Therefore, establishing rapid accurate microbiological assay needed. We evaluated Xpert C. (Xpert CD assay; Cepheid, USA) to detect toxigenic difficile. This real-time multiplex PCR that can be used strains differentiate presumptive...
Abstract Background: mutation is an emerging biomarker for treatment selection in non-small-cell lung cancer (NSCLC) patients. However, optimal detection hindered by complications associated with the biopsy procedure, tumor heterogeneity and limited sensitivity of test methodology. In this study, we evaluated diagnostic utility real-time PCR using malignant pleural effusion samples. Methods: A total 77 fluid samples from NSCLC patients were tested cobas EGFR (Roche Molecular Systems)....
Emerging data suggest that the gut microbiome is related to pathophysiology of obesity. This study aimed at characterizing microbiota composition between obese and normal-weight Korean children aged 5-13. We collected fecal samples from 22 24 performed 16S rRNA gene sequencing using Illumina MiSeq platform. The relative abundance phylum Bacteroidetes was lower in group than showed a significant negative correlation with BMI<mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"...
Abstract Background The exosomal nucleic acid (exoNA) from the plasma and pleural fluid can potentially provide means to identify genomic changes in non-small cell lung cancer (NSCLC) patients who develop resistance targeted epidermal growth factor receptor (EGFR) inhibitor therapy. Methods We compared performance of following tools detect EGFR mutations 54 samples 13 using cfDNA, combined TNA (exoTNA + cfTNA), or total cellular DNA: droplet digital PCR (ddPCR), Cobas® Mutation Test v2...
Abstract Background Ultra-deep sequencing to detect low-frequency mutations in circulating tumor-derived DNA (ctDNA) increases the diagnostic value of liquid biopsy. The demand for large ctDNA panels comprehensive genomic profiling and tumor mutational burden (TMB) estimation is increasing; however, few TMB have been validated. Here, we designed a panel with 531 genes, named TMB500, along technical clinical validation. Methods Synthetic reference cell-free materials predefined allele...
Circulating tumor DNA (ctDNA) is a potential biomarker in pancreatic ductal adenocarcinoma (PDAC). However, studies on residual ctDNA patients post-chemotherapy are limited. We assessed the prognostic value of metastatic PDAC relative to that carbohydrate antigen 19-9 (CA19-9). analysis using targeted next-generation sequencing panel was performed at baseline and during chemotherapy response evaluation 53 patients. Progression-free survival (PFS) overall (OS) were first evaluated based...
// Saeam Shin 1, 2, * , Yoonjung Kim Seoung Chul Oh 1 Nae Yu Seung-Tae Lee Jong Rak Choi Kyung-A Department of Laboratory Medicine, Yonsei University College Seoul, Republic Korea 2 Hallym Kangnam Sacred Heart Hospital, These authors contributed equally to this work Correspondence to: Lee, email: KAL1119@yuhs.ac Keywords: BRCA, Ion Torrent, next-generation sequencing, S5 XL, Oncomine Received: December 22, 2016 Accepted: March 24, 2017 Published: April 03, ABSTRACT In study, we validated the...
The phenotype of the 5α-reductase type 2 deficiency (5αRD2) by SRD5A2 gene mutation varies, and although there have been many attempts, genotype-phenotype correlation still has not yet adequately evaluated. Recently, crystal structure isozyme (SRD5A2) determined. Therefore, present study retrospectively evaluated from a structural perspective in 19 Korean patients with 5αRD2. Additionally, variants were classified according to categories, phenotypic severity was compared previously published...
In this study, we investigated medically or surgically actionable genes in inherited eye disease, based on clinical phenotype and genomic data. This retrospective consecutive case series included 149 patients with diseases, seen by a single pediatric ophthalmologist, who underwent genetic testing between 1 March 2017 28 February 2018. Variants were detected using target enrichment panel of 429 known deep intronic variants associated disease. Among patients, 38 (25.5%) had family history,...
Next-generation sequencing (NGS) facilitates comprehensive molecular analyses that help with diagnosing unsolved disorders. In addition to detecting single-nucleotide variations and small insertions/deletions, bioinformatics tools can identify copy number (CNVs) in NGS data, which improves the diagnostic yield. However, due possibility of false positives, subsequent confirmation tests are generally performed. Here, we introduce Copy-number Analysis by BAse-level NormAlization (CABANA), a...