Jong Rak Choi

Baseline Plasma Cell-Free and Circulating Tumor DNA Across Lymphoma Subtypes and Its Prognostic Impact in Diffuse Large B-Cell Lymphoma

Jin Ju Kim, Yu Ri Kim, Hongkyung Kim, Hye Won Kook et autres

Background: Circulating tumor DNA (ctDNA) analysis enables real‑time assessment of the tumor burden and genomic complexity in lymphomas. However, real‑world evidence across lymphoma subtypes is limited. Methods: We analyzed cell‑free DNA (cfDNA) and ctDNA data from 336 consecutive patients with newly diagnosed …

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Clinical Application of Circulating Tumor DNA in Surgically Treated Esophageal Squamous Cell Carcinoma

Hanmil Jang, Seung Jung Han, Sung Yong Park, Dongju Won et autres

Background: Esophageal squamous cell carcinoma (ESCC) is associated with a high recurrence rate and is one of the most aggressive malignancies. Recurrence is mainly detected via imaging modalities; however, postoperative imaging surveillance has disadvantages, including reduced sensitivity in postoperative or irradiated tissues, …

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Comprehensive High-Sensitivity Mutation Profiling in MPNs: Diagnostic and Prognostic Implications

Namsoo Kim, Yehyun Kang, Hye Won Kook, Haerim Chung et autres

Background/Objectives: Myeloproliferative neoplasms (MPNs) are clonal hematopoietic stem cell disorders driven by somatic mutations, most commonly those in JAK2, CALR, and MPL. While conventional molecular testing often focuses on these canonical mutations, emerging data suggest that additional mutations and low-variant-allele-frequency (VAF) subclones …

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Acquired Genetic Variants, Not Tumor Mutation Burden, Drive Resistance to Immunotherapy in Hepatocellular Carcinoma

Jinho Lee, Hye Won Lee, Mi Ri Park, Saeam Shin et autres

Introduction: While immunotherapy has emerged as a promising treatment option, no reliable predictive biomarker has been established for immunotherapy in hepatocellular carcinoma (HCC). In this study, we used genetic analyses to verify the prognostic significance of tumor mutation burden (TMB) in HCC …

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Clinical Utility of Whole RNA Sequencing for Fusion Detection in Acute Leukemia

Namsoo Kim, Yu Jin Park, Young Kyu Min, Seoyoung Lim et autres

BACKGROUND: Gene fusions play a pivotal role in the pathogenesis and classification of hematologic malignancies. RNA sequencing (RNA-seq) has emerged as a powerful tool for detecting gene fusions; however, many clinical studies have focused on targeted RNA-seq, and optimal parameters for whole …

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IP47-12 DIAGNOSTIC POTENTIAL OF URINE CELL-FREE DNA IN UROTHELIAL CARCINOMA

Ji Eun Heo, Seung Chan Kwon, Ji Hwan Lee, Kevin Kang et autres

Comparative evaluation of two NGS-based assays for somatic hypermutation analysis of IGHV genes in chronic lymphocytic leukemia

Yehyun Kang, H. R. Lee, Yu Jin Park, Seung-Tae Lee et autres

PURPOSE: Somatic hypermutation (SHM) of the immunoglobulin heavy chain variable (IGHV) region is a key prognostic marker in chronic lymphocytic leukemia (CLL). Traditionally, SHM status has been determined using Sanger sequencing (SS); however, next-generation sequencing (NGS) provides an alternative method for assessing …

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Report of the Korean Association for External Quality Assessment of Next-Generation Sequencing Analysis for Somatic Variants in Hematologic Malignancies (2021–2025)

Dongju Won, Yu Jin Park, JoungEun Lee, Mijung Kwon et autres

Next-generation sequencing (NGS) is increasingly being used to guide diagnosis, risk stratification, and treatment decisions in hematologic malignancies.Ensuring inter-laboratory concordance through external quality assessment (EQA) is thus essential.The association evaluated a nationwide NGS EQA program for somatic variants in hematologic malignancies conducted …

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Performance Evaluation of PacBio PureTarget for Multiple Short Tandem Repeat Expansion Detection

Eunju Yeom, Yu Jin Park, Saeam Shin, Seung-Tae Lee et autres

Background: Excessive repeat sequence expansion in the human genome causes neurodegenerative diseases. Conventional tandem repeat expansion detection methods often fail to amplify GC-rich repeat regions and cannot help in simultaneously detecting multiple regions. To overcome those limitations, we tested the PacBio PureTarget …

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Supplementary Data 1 from Investigation of PARP Inhibitor Resistance Based on Serially Collected Circulating Tumor DNA in Patients With BRCA-Mutated Ovarian Cancer

Yoo‐Na Kim, Yeeun Shim, Jieun Seo, Zisun Choi et autres

Supplementary MethodsSupplementary Figure 1-5Supplementary Table 1-2

Performance Evaluation of Whole-Genome Amplification Platforms for Clinical Next-Generation Sequencing with Minimal Nucleic Acid Input

Namsoo Kim, Hyeonah Lee, Mi Ri Park, Yehyun Kang et autres

Background: Next-generation sequencing (NGS) is increasingly applied in clinical diagnostics; however, standard workflows are frequently challenged by insufficient DNA yields in diverse clinical scenarios. Although whole-genome amplification (WGA) is used to overcome this limitation, comparative performance data on WGA kits based on …

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Increasing Antimicrobial Resistance Profile Diversity of Colonizing Group B Streptococcus in Reproductive-Aged Women in Korea

Kwangjin Ahn, Seong Jin Choi, Hye Gyung Bae, Hyukmin Lee et autres

Background: An increase of group B Streptococcus (GBS) colonization in pregnant women with a parallel rise in neonatal and infant infections, were observed in Korea. We characterized antimicrobial resistance (AMR) and molecular features of GBS isolates from reproductive-aged women between 1994-2000 and …

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