A5020960549- Acute Myeloid Leukemia Research
- Cancer Genomics and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Acute Lymphoblastic Leukemia research
- Genomics and Rare Diseases
- Epilepsy research and treatment
- Genomic variations and chromosomal abnormalities
- Chronic Myeloid Leukemia Treatments
- CNS Lymphoma Diagnosis and Treatment
- Protein Degradation and Inhibitors
- Chronic Lymphocytic Leukemia Research
- CAR-T cell therapy research
- Lymphoma Diagnosis and Treatment
- T-cell and B-cell Immunology
- Sexual Differentiation and Disorders
- HIV/AIDS drug development and treatment
- Sarcoma Diagnosis and Treatment
- Streptococcal Infections and Treatments
- Lysosomal Storage Disorders Research
- Ocular Diseases and Behçet’s Syndrome
- Hematological disorders and diagnostics
- Colorectal Cancer Treatments and Studies
- Renal and related cancers
- Glycogen Storage Diseases and Myoclonus
- Cancer-related Molecular Pathways
Severance Hospital
2019-2023
Yonsei University
2018-2023
Korea University
2020-2021
Catholic University of Korea
2018
Samsung Medical Center
2014-2015
Sungkyunkwan University
2014-2015
Abstract Acute myeloid leukemia (AML) is one of the most common types leukemia. With recent advances in sequencing technology and growing body knowledge on genetics AML, there increasing concern about cancer predisposing germline mutations as well somatic mutations. As familial cases sharing are constantly reported, predisposition gene patients with AML gaining attention. We performed genomic Korean diagnosed to identify prevalence characteristics Among 180 patients, were identified 13...
Conventional screening for congenital adrenal hyperplasia (CAH) using immunoassays generates a large number of false-positive results. A more specific liquid chromatography-tandem mass spectrometry (LC-MS/MS) method has been introduced to minimize unnecessary follow-ups. However, because limited data on its use in the Korean population, LC-MS/MS not yet incorporated into newborn programs this region. The present study aims develop and validate an simultaneous determination seven steroids...
Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal tumor characterized by numerous colonic polyps that often lead to colon cancer. Although most patients with FAP harbored germline mutations in APC gene, it was recently recognized clinical FAP, but without detectable pathogenic mutations, could be associated somatic mosaic mutation. We reanalyzed the nest-generation sequencing (NGS) gene panel testing results of who were diagnosed did not have at Yonsei Cancer...
Abstract Aims. We aimed to delineate the phenotypic spectrum of SCN2A ‐related developmental and epileptic encephalopathy (DEE) determine effectiveness various treatment modalities, including sodium channel blockers ketogenic diet. Methods. Eleven patients with DEE were included in study. The characteristics mutations, electroclinical features, clinical course, response modalities analysed. Results. 11 aged between 0.4 9.7 years. onset seizures ranged from neonate (six patients) infant (four...
Bone marrow biopsies are routinely performed for staging patients with B-cell non-Hodgkin lymphoma (NHL). In addition to histomorphological studies, ancillary tools may be needed accurate diagnosis. We investigated the clinical utility of multiparameter flow cytometric examination bone aspirates.A total 248 specimens from 232 diagnosed NHL were examined. Monoclonal antibodies directed against CD19, CD20, CD10 (or CD5), and κ λ immunoglobulins used. Multi-stage sequential gating was select...
Identification of gene fusion is an essential part in the management patients with acute leukemia, not only for diagnosis but also predicting treatment outcome and selecting appropriate treatment. Adopting next-generation sequencing (NGS) technology identification leukemia can be a good alternative to conventional tests. In present study, NGS RNA panel test was applied diagnostic samples identify genes more efficiently. Among 134 53 fusions were detected 52 patients. addition recurrent...
Genetic diagnosis of patients with neurodevelopmental disorders is imperative and a standard clinical practice. Considering the continuous accumulation data on disease-causing variants, reanalysis previously established sequencing important. Periodic variants uncertain significance has become mandatory in laboratories. Therefore, to confirm utility targeted gene panel laboratories, we re-evaluated two groups who had undergone testing for (n = 116) epileptic encephalopathy 384). This was...
The 2016 World Health Organization classification introduced a number of genes with somatic mutations and category for germline predisposition syndromes in myeloid neoplasms. We have designed comprehensive next-generation sequencing assay to detect mutations, translocations, single evaluated its clinical utility patients Extensive specified bioinformatics analyses were undertaken nucleotide variations, FLT3 internal tandem duplication, genic copy chromosomal variations. This enabled us...
Purpose To report a case of patient whose MYD88 mutation disappeared from the aqueous humor following treatment with intravitreal methotrexate.Methods A retrospective review clinical, histopathological and imaging records.Results 49-year-old woman presented bilateral primary vitreoretinal lymphoma confirmed by molecular next-generation sequencing studies on vitreous biopsy samples. Initially, L265P was detected in samples both eyes. Serial testing for mutations performed collected at time...
Background PPM1D (Protein phosphatase magnesium-dependent 1δ) is known as a damage response regulator, part of the p53 negative feedback loop. Truncating mutations PPM1D, resulting in overexpression, are frequently found blood patients with breast or ovarian cancer. To identify whether mutation predisposes to such cancers if it results from cancer and therapy, somatic association previous chemotherapy need be explored. Methods We performed next-generation sequencing (NGS) analysis samples...
Acute lymphoblastic leukemia (ALL) is a genetically complex and heterogeneous disease for which wide range of genetic variations has been identified. With the need comprehensive high-throughput analysis, we have designed next-generation sequencing (NGS) assay to detect somatic mutations, translocations, copy number changes evaluated its clinical utility in patients with ALL. The panel reliably detected single nucleotide (SNV) (CNV) analysis was exceptionally useful identifying genic...
In patients with severe combined immunodeficiency (SCID), the immune system often fails to eradicate maternal cells that enter foetus via placenta, resulting in transplacental engraftment (TME) syndrome. However, clinical significance of TME has not been comprehensively elucidated.Here, we describe a patient SCID novel frameshift IL2RG mutation associated engrafted CD8+ T had expanded by viral infection. To evaluate origin cells, HLA-typed myeloid and analysed immunological characteristics...
Red cells that express extremely low levels of D antigen cannot be detected by routine serologic tests are designated as DEL. Most DEL blood donors typed D-negative. However, red can recognized serological adsorption and elution test or molecular RHD genotyping. Anti-D production in patients with D-negative who received transfusion containing has reported, therefore distinction between variant true D- negative is clinically important. This review highlights a strategy laboratory update on...