1.Gut microbiome in colorectal cancer: recent advances and clinical implications
Jun Yong HAN ; Min Jung KIM ; Ji Won PARK ; Seung-Yong JEONG
Annals of Coloproctology 2026;42(1):72-85
The gut microbiome is not just a bystander of colorectal carcinogenesis but is an active driver of colorectal cancer (CRC). CRC-associated microbiome contributes in the tumorigenesis through chronic inflammation, formation of toxic metabolite and genotoxins, oncogenic signal activation, immune evasion, and barrier disruption—all reinforcing a tumor microenvironment. In contrast, beneficial microbiome supports the barrier-immune-metabolic axis by maintaining mucosal integrity and balanced immune tone. Despite extensive studies of microbiome-based CRC biomarkers, microbiome-based CRC biomarkers have not been yet ready for routine clinical use due to variation across populations and lack of standardization of key steps such as sampling, analysis, cutoffs, and interpretation. Microbiome-based therapies aim to change the overall intestinal ecosystem rather than simply adding or removing single strains. At present, dietary modulation and prebiotics are considered supportive measures, while probiotics or synbiotics are in preclinical stage. Fecal microbiota transplantation (FMT) still faces important challenges in effectiveness, standardization and safety. By its role in reshaping the tumor–host immune environment, FMT is viewed as a potential option for cancer therapy after further development through well-controlled clinical trials with careful safety monitoring.
2.High-Resolution Chromosomal Microarray with Diagnostic Potential for Detecting Exon-Level Copy Number Variations Using Targeted and Non-targeted Approaches
Yeseul KIM ; Jee-Soo LEE ; Boram KIM ; Man Jin KIM ; Sung Im CHO ; Seung Won CHAE ; Ho Seob SHIN ; Hoyeon LEE ; Ji Yeon KIM ; Moon-Woo SEONG
Annals of Laboratory Medicine 2026;46(2):190-199
Background:
Copy number variations (CNVs) play an important role in human genetic disorders. Detection of exon-level CNVs is crucial for accurate clinical diagnosis. The CytoScan XON Array, a high-resolution microarray, was recently developed to detect exonic CNVs of various genes.
Methods:
We evaluated the clinical performance of the CytoScan XON Array using 59 patient samples with previously identified CNVs, confirmed via methods including multiple ligation-dependent probe amplification (MLPA), gene-dose PCR, and mRNA assay. Concordance between CytoScan XON and orthogonal methods was evaluated in target regions, and diagnostic utility was compared with that of genome sequencing (GS)-based CNV calling tools through analysis of false-positive CNVs in non-target genomic regions.
Results:
For target regions, the CytoScan XON Array achieved concordance rates of 89.8% and 92.5% at the exon and gene levels, respectively, for all CNV calls. Concordance was higher for multi-exon CNVs (100%) than that for single-exon CNVs (82.6%, P = 0.03). For non-target regions, false-positive CNV calls were reduced to fewer than 0.01 per gene per person through filtering strategies. The array exhibited false-positive detection rates within dosage-sensitive genes comparable with those of GS-based tools.
Conclusions
The CytoScan XON Array, a reliable tool for detecting exon-level CNVs in target regions, can serve as a complementary approach to GS-based CNV calling tools for genome-wide CNV screening with high resolution. However, its performance for single-exon CNVs requires further optimization. Cross-validation with GS-based CNV calling tools is recommended to improve diagnostic accuracy.
3.Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia
Hyun-Young KIM ; Boram KIM ; Min-Seung PARK ; Jong-Ho PARK ; Hee Young JU ; Keon Hee YOO ; Jun Ho JANG ; Chul Won JUNG ; Hee-Jin KIM
Annals of Laboratory Medicine 2026;46(3):257-269
Background:
Fusion genes are major drivers of acute leukemia. Conventional diagnostics are limited in detecting the diverse fusions included in recently updated acute leukemia classifications. We evaluated the fusion detection performance of RNA sequencing (RNAseq) compared with that of conventional diagnostics in patients with acute leukemia.
Methods:
We retrospectively obtained the data of 101 patients with acute leukemia who underwent conventional diagnostics (i.e., karyotyping, FISH, or multiplex reverse transcription PCR) at diagnosis at Samsung Medical Center, Seoul, Korea, between September 2022 and September 2023. Whole RNA-seq was performed using the Illumina Stranded mRNA Prep kit (Illumina, San Diego, CA, USA). The concordance, sensitivity, and specificity of RNA-seq for fusion gene detection were compared with those of conventional diagnostics.
Results:
RNA-seq helped identify 52 fusion genes in 51 (50.5%) of 101 patients, with detection rates of 40.7%, 70.3%, 37.5%, and 50% in acute myeloid leukemia, B-cell acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemia, and mixed-phenotype acute leukemia, respectively. RNA-seq showed 83.3% sensitivity and 80.8% concordance with conventional diagnostics; it missed eight fusions, likely because of low transcript abundance or enhancer hijacking. RNA-seq also helped clarify three previously unspecified rearrangements and detected 12 fusions (21.4%) in 56 cases that tested negative with conventional diagnostics, including four novel (KMT2A::THAP12 , RUNX1::PRPF19 , MLLT10::UBE2L6, and FUS::ZNF362) and three rare (HNRNPH1::ERG, RUNX1::USP42, and ETV6::NCOA2) fusions.
Conclusions
This was the first study to evaluate the performance of whole RNA-seq in fusion detection in patients with acute leukemia in Korea. Incorporating RNA-seq into diagnostic workflows may facilitate earlier and more precise therapeutic decisions and improve prognostic assessment in patients with acute leukemia.
4.Periarticular Osteoid Osteoma of the Calcaneus: A Case Report
Kyeong Baek KIM ; Jung Yun BAE ; Suk-Woong KANG ; Won Chul SHIN ; Sang-Min LEE ; Seung Hun WOO
Journal of Korean Foot and Ankle Society 2026;30(2):80-85
Osteoid osteoma accounts for approximately 10% of all benign bone tumors, but only approximately 4% of cases occur in the foot and ankle area. Periarticular osteoid osteoma frequently manifests with nonspecific clinical symptoms that mimic other conditions, potentially leading clinicians down a diagnostic side path and resulting in delayed or missed diagnoses compared to extra-articular osteoid osteoma. Although plain radiographs may show nonspecific findings, magnetic resonance imaging can detect bone marrow edema and surrounding soft tissue changes. Computed tomography is the most accurate modality for diagnosis. This paper reports the case of a 26-year-old female diagnosed with periarticular osteoid osteoma of the calcaneus and was treated with arthroscopic localized curettage at the author’s institution.
5.2025 Focused Update of the Seoul Consensus on Gastroesophageal Reflux Disease: Evidence-based Recommendations on Acid Suppressive Therapy
Cheal Wung HUH ; Jin Won CHANG ; Nak-Hoon SON ; Da Hyun JUNG ; Hye-Kyung JUNG ; Seung Joo KANG ; Seung Young KIM ; Miyoung CHOI ; Da Mi JEONG ; Hyun Jin KIM ; Moo In PARK ; In-Kyung SUNG ; Young Hoon YOUN ; Kwang Jae LEE ;
Journal of Neurogastroenterology and Motility 2026;32(1):7-18
Gastroesophageal reflux disease (GERD) is a chronic and relapsing gastrointestinal disorder characterized by the reflux of gastric contents into the esophagus, leading to troublesome symptoms and/or complications. Since the publication of the 2020 Seoul Consensus on GERD, significant new evidence has emerged, particularly regarding acid-suppressive therapies and diagnostic approaches. This 2025 focused update aims to refine GERD management strategies by incorporating the latest evidence on acid suppressive therapies and regional considerations in Asian populations. This study builds on the 2020 Seoul Consensus by integrating systematic reviews, meta-analyses, and expert consensuses to offer updated recommendations for the definition and medical treatment of GERD. These guidelines incorporate recent advances in acid-suppressive therapies, particularly potassium-competitive acid blockers, and adopt updated diagnostic frameworks in accordance with the Lyon Consensus 2.0. Key clinical questions were identified and structured using the following format: Population, Intervention, Comparator, Outcome. The resulting recommendations address the initial treatment, long-term maintenance strategies, and role of personalized therapy based on disease severity, such as the grade of reflux esophagitis. Six key statements are presented: updated definition and classification of GERD (Statement 1); initial and long-term treatment strategies tailored to GERD phenotypes, such as non-erosive reflux disease, mild erosive esophagitis, and severe erosive esophagitis (Statements 2-5); and dose optimization strategies for long-term safety (Statement 6). These guidelines aim to support gastroenterologists and general healthcare providers in making individualized evidence-based decisions for GERD management.
6.What Should Be Done Right Now for Better Health System in 10 Years?: Health System Reform Tasks
Juhwan OH ; Sang-il LEE ; Kunhee PARK ; Seung-Won OH ; Junghee AHN ; HaDa RYUOK ; Eun Jin HA ; Seung-yeon CHO ; Sung-ju KIM ; Eunyoung CHO ; Hee Gyung KANG ; Serng Bai PAK ; Eun Kyung EO
Korean Journal of Family Practice 2026;16(1):1-8
South Korea’s current healthcare system stands at a critical crossroads that will determine whether it can progress in a better direction over the next decade. Behind the relatively stable level of population health that has been maintained until now, it has become clear that the deterioration of patient experiences, the risk of collapse in critical emergency medical services, the burnout of healthcare providers, and the crisis in the sustainability of healthcare finances have all accumulated simultaneously. This crisis can no longer be overcome by partial fixes or short-term measures alone. The answer to what needs to change first must begin with a reaffirmation of what the healthcare system should aim for. Ultimately, what needs to be changed now is not an individual policy, but the criteria and priorities through which we view healthcare. The focus must shift from what to provide more of, to questioning what holds greater social value. If such a shift does not begin now, in ten years we won’t face a better healthcare system, but care enmeshed in a deeper crisis. Now is precisely the time to fundamentally define the direction of the healthcare system.
8.Diagnostic Performance and Clinical Implications of the “Probable Hepatocellular Carcinoma” Category in the Korean Liver Cancer Association-National Cancer Center Korea Guidelines v2022
Jeong Hee YOON ; Jin-Young CHOI ; Young Kon KIM ; Chang Hee LEE ; Jeong Woo KIM ; Won CHANG ; Joon-Il CHOI ; Seung-seob KIM ; Hee Sun PARK ; Eun Sun LEE ; Jeong-Sik YU ; Seong Jin PARK ; Myung-Won YOU ; Myoung-jin JANG ; Beom Jin PARK ; Jeong Min LEE
Korean Journal of Radiology 2026;27(4):318-331
Objective:
To evaluate the diagnostic performance of the “probable hepatocellular carcinoma (HCC)” category in the Korean Liver Cancer Association-National Cancer Center (KLCA-NCC) v2022 guidelines.
Materials and Methods:
This multicenter retrospective study included patients at risk of HCC who underwent gadoxetic acid-enhanced MRI between January 2015 and June 2018; a subgroup of these patients also underwent liver CT. Eligible patients had at least one non-cystic lesion (≥10 mm) with a reference standard. Four radiologists interpreted the images independently and the results were pooled. The performance of “definite HCC” and “probable HCC” together and “probable HCC” alone were compared between v2018 and v2022.
Results:
A total of 2,237 patients (1,666 men; mean age, 59 ± 11 years) with 2,445 lesions were included. In v2022, 1.5% (143/9,780) of the lesions were additionally categorized as “probable HCC” by four reviewers on MRI; among these, 104 lesions were not HCCs. Focal nodular hyperplasia (FNH) or FNH-like nodules constituted 90.4% (94/104) of the false positives. When “definite HCC” and “probable HCC” were combined, v2022 showed higher sensitivity (83.7% [5,670/6,776] vs. 83.1% [5,631/6,776]) but lower specificity (77.1% [2,316/3,004] vs. 80.6% [2,420/3,004]) than v2018 (P < 0.001). For “probable HCC” alone, v2022 showed a lower positive predictive value (PPV) than v2018 (64.1% [373/582] vs. 76.1% [334/439], P < 0.001). In v2022, lesions with non-rim arterial-phase hyperenhancement (APHE) showed a lower PPV than those without APHE (42.3% [91/215] vs. 76.8% [282/367], P < 0.001). In the CT subgroup (n = 1,590), 1.6% (99/6,360) of the lesions were reassessed as “probable HCC,” and its PPV was 83.8% (83/99) in v2022 whereas no lesions were classified as “probable HCC” under v2018.
Conclusion
The revised “probable HCC” category in the KLCA-NCC v2022 aligns with updates in the diagnostic flow, demonstrating acceptable performance on MRI and CT. Notably, FNH or FNH-like nodules can be misclassified as “probable HCC” when MRI is used.
9.Prospective Evaluation of Irreversible Electroporation With Clustered Electrodes as a Novel Palliative Approach for Locally Advanced Pancreatic Cancer
Joon Ho KWON ; Man-Deuk KIM ; Maher Salamah ALANAZI ; Jiwon SUK ; Seung JEONG ; Seungmin BANG ; Moon Jae CHUNG ; Ho Kyoung HWANG ; Seung Soo HONG ; Kichang HAN ; Gyoung Min KIM ; Jong Yun WON ; Juil PARK ; Jaesung CHO ; Seok Min JEONG ; Tae Yang CHOI
Korean Journal of Radiology 2026;27(2):152-160
Objective:
This study aimed to evaluate the feasibility, safety, and oncologic outcomes of irreversible electroporation (IRE) using a clustered electrode in patients with locally advanced pancreatic cancer (LAPC).
Materials and Methods:
In this single-center prospective cohort study, 13 patients with LAPC (median age, 60 years; range, 48–78 years) underwent clustered electrode IRE between September 2022 and September 2024. Patient characteristics, procedural details, and clinical outcomes were recorded. Endpoints included technical success, procedure-related complications, overall survival (OS), and progression-free survival (PFS).
Results:
Tumors were located in the pancreatic head in four patients (30.8%) and in the body/tail in nine (69.2%). The median tumor size was 2.4 cm (1.5–4.0 cm), and vascular invasion was present in all patients. Technical success was achieved in all patients. Intraoperative IRE was performed in 11 (84.6%) patients, and 2 (15.4%) patients underwent percutaneous IRE. Gastrointestinal bleeding events as major complications occurred in two patients (15.4%) and, both were successfully controlled by embolization. No 60-day mortality was observed. At a median follow-up of 24.5 months (range, 9.9–33.4 months) after IRE, median OS and PFS from IRE were 20.1 and 14.5 months, respectively.
Conclusion
IRE using clustered electrodes for LAPC appears to be a feasible therapeutic approach, offering reliable technical success and acceptable safety. Survival outcomes are encouraging; however, larger, controlled studies are required.
10.Radiologic Response Assessment With RECIST 1.1 and mRECIST in Patients With Hepatocellular Carcinoma Treated With Atezolizumab Plus Bevacizumab
Boryeong JEONG ; Hyo Jung PARK ; Won-Mook CHOI ; Sang Hyun CHOI ; Kyung Won KIM ; So Yeon KIM ; Seung Soo LEE
Korean Journal of Radiology 2026;27(5):428-439
Objective:
Evidence remains limited regarding whether Response Evaluation Criteria in Solid Tumors version 1.1 (RECIST 1.1) or modified RECIST (mRECIST) more reliably assesses treatment response in patients with hepatocellular carcinoma (HCC) receiving atezolizumab plus bevacizumab (Atezo/Bev). This study aimed to evaluate response patterns based on RECIST 1.1 and mRECIST, analyze inter-reader agreement, and assess their prognostic value for overall survival (OS) in patients with HCC receiving first-line Atezo/Bev.
Materials and Methods:
This retrospective study included patients with HCC treated with first-line Atezo/Bev between June 2020 and December 2022 at a tertiary center. Patients with at least one hypervascular hepatic target lesion were eligible. Two radiologists independently assessed treatment responses using RECIST 1.1 and mRECIST. Inter-reader agreement was evaluated using Cohen’s kappa coefficient. Time-dependent Cox regression analysis was performed, with radiologic response and progression treated as time-varying covariates. Prognostic discrimination was evaluated using Harrell’s concordance index (C-index).
Results:
A total of 207 patients were included (171 men; median age, 63 years; median follow-up, 10.7 months [range, 0.8– 46.4 months]; median OS, 10.7 months [95% confidence interval, 9.2–12.8 months]). mRECIST identified more responders than RECIST 1.1 (54.6% vs. 16.9%). RECIST 1.1 demonstrated excellent inter-reader agreement, whereas mRECIST showed substantial agreement (weighted kappa, 0.89 vs. 0.79). A significantly higher rate of dissociated responses was observed with mRECIST than with RECIST 1.1 (14.0% vs. 4.3%, P < 0.001). Both RECIST 1.1- and mRECIST-based responses and progression were independently associated with OS. Models incorporating RECIST 1.1 demonstrated slightly higher C-index values than those incorporating mRECIST (RECIST 1.1: 0.68 for response and 0.75 for progression; mRECIST: 0.65 and 0.70, respectively).
Conclusion
RECIST 1.1 is more reproducible and prognostically valuable for guiding treatment decisions in patients with HCC receiving first-line Atezo/Bev. However, this does not invalidate the use of mRECIST as a biological tumor response marker.

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