1.Feasibility of Circulating Tumor DNA Detection in the Cerebrospinal Fluid of Patients With Central Nervous System Involvement in Large B-Cell Lymphoma
Seok Jin KIM ; Jin Ju KIM ; Mi Ri PARK ; Bon PARK ; Kyung Ju RYU ; Sang Eun YOON ; Won Seog KIM ; Saeam SHIN ; Seung-Tae LEE
Annals of Laboratory Medicine 2025;45(1):90-95
We explored the utility of cerebrospinal fluid (CSF) circulating tumor DNA (ctDNA) sequencing as a noninvasive diagnostic tool for detecting central nervous system (CNS) involvement in patients with diffuse large B-cell lymphoma (DLBCL). Secondary CNS involvement in DLBCL, although rare (~5% of cases), presents diagnostic and prognostic challenges during systemic disease progression or relapse. Effective treatment is impeded by the blood–brain barrier. This was a prospective cohort study (Samsung Lymphoma Cohort Study III) involving 17 patients with confirmed CNS involvement. High-throughput sequencing was conducted using targeted gene panels designed to detect low-frequency variants and copy number alterations pertinent to lymphomas in ctDNA extracted from archived CSF samples. Despite challenges such as low DNA concentrations affecting library construction, the overall variant detection rate was 76%. Detected variants included those in genes commonly implicated in CNS lymphoma, such as MYD88. The study highlights the potential of CSF ctDNA sequencing to identify CNS involvement in DLBCL, providing a promising alternative to more invasive diagnostic methods such as brain biopsy, which are not always feasible. Further validation is necessary to establish the clinical utility of this method, which could significantly enhance the management and outcomes of DLBCL patients with suspected CNS involvement.
2.Performance Evaluation of the LabGenius C-CT/NG-BMX Assay for Chlamydia trachomatis and Neisseria gonorrhoeae Detection
Yong Kwan LIM ; Oh Joo KWEON ; Ae Ja PARK ; Hongkyung KIM ; Sumi YOON ; Tae-Hyoung KIM ; Mi-Kyung LEE
Annals of Laboratory Medicine 2025;45(2):218-222
The LabGenius C-CT/NG-BMX assay (LabGenius CT/NG; BIOMEDUX, Gyeonggi, Republic of Korea) is a recently developed real-time PCR assay that can simultaneously detect the sexually transmitted pathogens Chlamydia trachomatis (CT) and Neisseria gonorrhoeae (NG) in genitourinary specimens. We evaluated the analytical performance of this assay in comparison with BD MAX CT/GC/TV (Becton Dickinson, Franklin Lakes, NJ, USA). The results of both assays were in nearly perfect agreement for the detection of CT and NG. LabGenius CT/NG demonstrated acceptable analytical performance, comparable with that of another commercially available kit, and provides a cost-effective option for detecting sexually transmitted pathogens in routine and follow-up testing.
3.TP53 Mutation Status in Myelodysplastic Neoplasm and Acute Myeloid Leukemia: Impact of Reclassification Based on the 5th WHO and International Consensus Classification Criteria: A Korean Multicenter Study
Hyun-Young KIM ; Saeam SHIN ; Jong-Mi LEE ; In-Suk KIM ; Boram KIM ; Hee-Jin KIM ; Yu Jeong CHOI ; Byunggyu BAE ; Yonggoo KIM ; Eunhui JI ; Hyerin KIM ; Hyerim KIM ; Jee-Soo LEE ; Yoon Hwan CHANG ; Hyun Kyung KIM ; Ja Young LEE ; Shinae YU ; Miyoung KIM ; Young-Uk CHO ; Seongsoo JANG ; Myungshin KIM
Annals of Laboratory Medicine 2025;45(2):160-169
Background:
TP53 mutations are associated with poor prognosis in myelodysplastic neoplasm (MDS) and AML. The updated 5th WHO classification and International Consensus Classification (ICC) categorize TP53-mutated MDS and AML as unique entities. We conducted a multicenter study in Korea to investigate the characteristics of TP53-mutated MDS and AML, focusing on diagnostic aspects based on updated classifications.
Methods:
This study included patients aged ≥ 18 yrs who were diagnosed as having MDS(N = 1,244) or AML (N = 2,115) at six institutions. The results of bone marrow examination, cytogenetic studies, and targeted next-generation sequencing, including TP53, were collected and analyzed.
Results:
TP53 mutations were detected in 9.3% and 9.2% of patients with MDS and AML, respectively. Missense mutation was the most common, with hotspot codons R248/ R273/G245/Y220/R175/C238 accounting for 25.4% of TP53 mutations. Ten percent of patients had multiple TP53 mutations, and 78.4% had a complex karyotype. The median variant allele frequency (VAF) of TP53 mutations was 41.5%, with a notable difference according to the presence of a complex karyotype. According to the 5th WHO classification and ICC, the multi-hit TP53 mutation criteria were met in 58.6% and 75% of MDS patients, respectively, and the primary determinants were a TP53 VAF > 50% for the 5th WHO classification and the presence of a complex karyotype for the ICC.
Conclusions
Collectively, we elucidated the molecular genetic characteristics of patients with TP53-mutated MDS and AML, highlighting key factors in applying TP53 mutation-related criteria in updated classifications, which will aid in establishing diagnostic strategies.
4.Evaluation of Exosome-derived Small RNAs as Potential Biomarkers for Pancreatic Ductal Adenocarcinoma Using Next-generation Sequencing
Hyemin KIM ; Sabin PARK ; Myung Ji GOH ; Young Hoon CHOI ; Minjee KIM ; Jin Ho CHOI ; Jung Hyun KIM ; Eun Mi LEE ; Se-Hoon LEE ; Kyu Taek LEE ; Kwang Hyuk LEE ; Jong Kyun LEE ; Semin LEE ; Joo Kyung PARK
Annals of Laboratory Medicine 2025;45(6):609-619
Background:
Pancreatic ductal adenocarcinoma (PDAC) has a poor prognosis and lacks clinical biomarkers. Exosomes are extracellular vesicles that facilitate cell–cell communication by distributing macromolecules, such as small RNAs (smRNAs). We assessed the potential of exosome-derived small RNAs (Ex-smRNAs) as PDAC biomarkers.
Methods:
Peripheral blood was collected from 51 patients with PDAC and 15 control individuals. Exosomes were isolated using an aqueous two-phase system. Ex-smRNAs were analyzed using smRNA sequencing. smRNA-mediated target gene regulation was verified via The Cancer Genome Atlas analysis and in vitro transfection and wound-healing assays using PDAC organoids.
Results:
The total Ex-smRNA count was substantially reduced in patients with PDAC compared with that in control individuals. The levels of microRNAs (miRNAs) miR-125a-5p, miR-30e-5p, miR-16-2-3p, miR-98-5p, and the let-7 family were significantly suppressed, whereas that of miR-6731-5p was significantly elevated. Let-7c-5p and miR-98-5p were found to interact with the long non-coding RNA OLMALINC to regulate their common target genes, BACH1 and CCND1, thus controlling PDAC proliferation and migration. The expressions of CARS1-AS1 and miR-142-5p were upregulated in treatment-responsive patients.Multivariable Cox regression analyses, adjusting for potential prognostic factors such as sex, Eastern Cooperative Oncology Group performance status, and tumor size and stage, revealed that CARS1-AS1 (adjusted hazard ratio [HR] 0.33; 95% confidence interval [CI], 0.15–0.73; P = 0.0061) and miR-142-5p (adjusted HR 0.79; 95% CI, 0.61–1.01; P = 0.0581) were associated with improved overall survival.
Conclusions
We identified potential Ex-smRNA biomarkers involved in PDAC progression and prognosis that reflect key molecular alterations in PDAC and may serve as clinically relevant biomarkers for disease monitoring.
5.Updates of Evidence-Based Nursing Practice Guidelines for Peripheral Intravenous Infusion Therapy
Ihn Sook JEONG ; Chan Mi KANG ; Kyeong Sug KIM ; Hyun Lim KIM ; Jeong Ok PARK ; Joohyun LEE ; Kyung Choon LIM ; Go Eun CHOI
Journal of Korean Clinical Nursing Research 2025;31(1):1-14
Purpose:
This study was conducted to update the practice guidelines for intravenous infusion therapy published in 2017, focusing on the most recent evidence for peripheral intravenous infusion therapy.
Methods:
The guideline update was conducted using the 22-step methodology.
Results:
The updated guidelines consist of 17 domains and 235 recommendations (including 284 sub-recommendations). The domains are as follows: general instructions (5 items), peripheral catheter selection (7), catheter insertion site selection (11), management during peripheral catheter insertion (10), post-insertion management (30), perfusion and locking (17), blood sampling via peripheral catheters(6), exchange and removal of peripheral catheters (6), infusion set management (14), add-on devices (32), complications (25), chemotherapy infusions (10), PCA infusions (7), parenteral nutrition (20), transfusion therapy (23), education (5), and documentation and reporting (7). The evidence levels for these recommendations are as follows: 27(9.5%) at level I, 3 (1.1%) at level I A/P, 118 (41.5%) at level II, and 136 (47.9%) at level III.Recommendation grades are categorized as follows: 30 (10.6%) at level A, 118 (41.5%) at level B, and 136(47.9%) at level C. Of these, 73 (25.7%) recommendations were newly developed, 49 (17.3%) underwent major revisions, and 147 (51.7%) underwent minor revisions.
Conclusion
The updated practice guideline, based on the latest evidence, is anticipated to enhance nursing practice related to peripheral intravenous infusion therapy.
6.Delayed Diagnosis of Imported Cystic Echinococcosis and Successful Treatment With Percutaneous Drainage and Albendazole in Korea: A Case Report
Won Jun CHOI ; Hanna JIN ; Hyeon Jae JO ; Chan Mi LEE ; Chang Kyung KANG ; Pyoeng Gyun CHOE ; Wan Beom PARK ; Nam Joong KIM ; Min-Ho CHOI
Journal of Korean Medical Science 2025;40(4):e88-
Echinococcosis, caused by the tapeworm Echinococcus, is rare in Korea and is primarily imported from endemic areas. We report a case of a 37-year-old Korean man with multiple large hepatic cysts, initially diagnosed as simple cysts at a local clinic in 2018. The patient had lived in Oman, an endemic area, for several months in 2016. Upon referral to a tertiary hospital in 2023, due to progressive cyst enlargement, liver magnetic resonance imaging revealed three large cysts with a water lily sign. Serum IgG against Echinococcus was positive by enzyme-linked immunosorbent assay. After diagnosis of echinococcosis, treatment with albendazole and puncture-aspiration-injection-reaspiration (PAIR) was performed.Microscopic and molecular analysis of cyst aspirates confirmed Echinococcus granulosus infection. Follow-up computed tomography demonstrated a reduction in cyst size, yet the emergence of a new right pleural effusion and consolidation in the left lower lobe of the lung necessitated the continuation of albendazole therapy. This case highlights the importance of thorough travel history, imaging findings, and the effectiveness of PAIR combined with albendazole in treating imported echinococcosis.
7.Factors Associated With Compliance and Persistence With Pharmacotherapy in Patients With Osteoporosis: A Nationwide Cohort Study in Korea
Seong Hee AHN ; So Young PARK ; Mi Kyung KWAK ; Yong-Chan HA ; Tae-Young KIM ; Ha Young KIM
Journal of Korean Medical Science 2025;40(18):e72-
Background:
Despite the necessity of long-term management for fracture risk reduction, adherence to osteoporosis pharmacotherapy remains poor. We investigated the factors influencing adherence to pharmacotherapy among Korean patients with osteoporosis, with a particular focus on treatment with bisphosphonates (BPs).
Methods:
Data from 725,313 osteoporosis patients newly prescribed BPs or selective estrogen receptor modulators (SERMs) between 2012 and 2014, obtained from the Korean National Health Insurance Service, were analyzed. Adherence was assessed based on compliance and persistence over a two-year period, with factors associated with adherence identified using multivariable logistic regression.
Results:
Only 14.8% of the patients who started BPs or SERMs sustained medication compliance, with 15.8% persisting with treatment over the two-year follow-up. Compared with BPs, patients receiving SERMs showed better compliance and persistence (odds ratios [ORs], 1.44 and 1.48, respectively; P < 0.001); while patients receiving intravenous administration showed higher compliance and persistence (ORs, 2.08 and 1.76, respectively; P < 0.001) compared with those taking oral medications. Patients placed on a quarterly dosing schedule showed improved compliance and persistence (ORs, 1.55 and 1.31, respectively; P < 0.001) compared with those on other dosing intervals. Male gender, advanced age, living outside metropolitan areas, receiving treatment in non-general hospitals, and a history of previous fractures were associated with poorer two-year adherence.
Conclusion
This study underscores the complex nature of medication adherence among Korean osteoporosis patients, particularly those treated with BPs. These findings accordingly indicate that medication with more convenient administration regimens and fewer side effects, coupled with suitable follow-up durations, could contribute to enhancing treatment adherence.
8.Updates of Evidence-Based Nursing Practice Guidelines for Peripheral Intravenous Infusion Therapy
Ihn Sook JEONG ; Chan Mi KANG ; Kyeong Sug KIM ; Hyun Lim KIM ; Jeong Ok PARK ; Joohyun LEE ; Kyung Choon LIM ; Go Eun CHOI
Journal of Korean Clinical Nursing Research 2025;31(1):1-14
Purpose:
This study was conducted to update the practice guidelines for intravenous infusion therapy published in 2017, focusing on the most recent evidence for peripheral intravenous infusion therapy.
Methods:
The guideline update was conducted using the 22-step methodology.
Results:
The updated guidelines consist of 17 domains and 235 recommendations (including 284 sub-recommendations). The domains are as follows: general instructions (5 items), peripheral catheter selection (7), catheter insertion site selection (11), management during peripheral catheter insertion (10), post-insertion management (30), perfusion and locking (17), blood sampling via peripheral catheters(6), exchange and removal of peripheral catheters (6), infusion set management (14), add-on devices (32), complications (25), chemotherapy infusions (10), PCA infusions (7), parenteral nutrition (20), transfusion therapy (23), education (5), and documentation and reporting (7). The evidence levels for these recommendations are as follows: 27(9.5%) at level I, 3 (1.1%) at level I A/P, 118 (41.5%) at level II, and 136 (47.9%) at level III.Recommendation grades are categorized as follows: 30 (10.6%) at level A, 118 (41.5%) at level B, and 136(47.9%) at level C. Of these, 73 (25.7%) recommendations were newly developed, 49 (17.3%) underwent major revisions, and 147 (51.7%) underwent minor revisions.
Conclusion
The updated practice guideline, based on the latest evidence, is anticipated to enhance nursing practice related to peripheral intravenous infusion therapy.
9.Delayed Diagnosis of Imported Cystic Echinococcosis and Successful Treatment With Percutaneous Drainage and Albendazole in Korea: A Case Report
Won Jun CHOI ; Hanna JIN ; Hyeon Jae JO ; Chan Mi LEE ; Chang Kyung KANG ; Pyoeng Gyun CHOE ; Wan Beom PARK ; Nam Joong KIM ; Min-Ho CHOI
Journal of Korean Medical Science 2025;40(4):e88-
Echinococcosis, caused by the tapeworm Echinococcus, is rare in Korea and is primarily imported from endemic areas. We report a case of a 37-year-old Korean man with multiple large hepatic cysts, initially diagnosed as simple cysts at a local clinic in 2018. The patient had lived in Oman, an endemic area, for several months in 2016. Upon referral to a tertiary hospital in 2023, due to progressive cyst enlargement, liver magnetic resonance imaging revealed three large cysts with a water lily sign. Serum IgG against Echinococcus was positive by enzyme-linked immunosorbent assay. After diagnosis of echinococcosis, treatment with albendazole and puncture-aspiration-injection-reaspiration (PAIR) was performed.Microscopic and molecular analysis of cyst aspirates confirmed Echinococcus granulosus infection. Follow-up computed tomography demonstrated a reduction in cyst size, yet the emergence of a new right pleural effusion and consolidation in the left lower lobe of the lung necessitated the continuation of albendazole therapy. This case highlights the importance of thorough travel history, imaging findings, and the effectiveness of PAIR combined with albendazole in treating imported echinococcosis.
10.Factors Associated With Compliance and Persistence With Pharmacotherapy in Patients With Osteoporosis: A Nationwide Cohort Study in Korea
Seong Hee AHN ; So Young PARK ; Mi Kyung KWAK ; Yong-Chan HA ; Tae-Young KIM ; Ha Young KIM
Journal of Korean Medical Science 2025;40(18):e72-
Background:
Despite the necessity of long-term management for fracture risk reduction, adherence to osteoporosis pharmacotherapy remains poor. We investigated the factors influencing adherence to pharmacotherapy among Korean patients with osteoporosis, with a particular focus on treatment with bisphosphonates (BPs).
Methods:
Data from 725,313 osteoporosis patients newly prescribed BPs or selective estrogen receptor modulators (SERMs) between 2012 and 2014, obtained from the Korean National Health Insurance Service, were analyzed. Adherence was assessed based on compliance and persistence over a two-year period, with factors associated with adherence identified using multivariable logistic regression.
Results:
Only 14.8% of the patients who started BPs or SERMs sustained medication compliance, with 15.8% persisting with treatment over the two-year follow-up. Compared with BPs, patients receiving SERMs showed better compliance and persistence (odds ratios [ORs], 1.44 and 1.48, respectively; P < 0.001); while patients receiving intravenous administration showed higher compliance and persistence (ORs, 2.08 and 1.76, respectively; P < 0.001) compared with those taking oral medications. Patients placed on a quarterly dosing schedule showed improved compliance and persistence (ORs, 1.55 and 1.31, respectively; P < 0.001) compared with those on other dosing intervals. Male gender, advanced age, living outside metropolitan areas, receiving treatment in non-general hospitals, and a history of previous fractures were associated with poorer two-year adherence.
Conclusion
This study underscores the complex nature of medication adherence among Korean osteoporosis patients, particularly those treated with BPs. These findings accordingly indicate that medication with more convenient administration regimens and fewer side effects, coupled with suitable follow-up durations, could contribute to enhancing treatment adherence.

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