1.Clonal Burden, Immunoglobulin Heavy Chain Variable Gene Somatic Hypermutations, and Immunoglobulin Gene Repertoire in Korean Patients with Chronic Lymphocytic Leukemia Assessed by Next-Generation Sequencing
Taegeun LEE ; Daehyun CHU ; Miyoung KIM ; Young-Uk CHO ; Sang-Hyun HWANG ; Jung-Hee LEE ; Dok Hyun YOON ; Hyungwoo CHO ; Seongsoo JANG
Annals of Laboratory Medicine 2026;46(2):136-145
Background:
We compared the immunoglobulin (IG) heavy chain (IGH) leader and FR1 primer sets to measure clone sizes and detect immunoglobulin heavy chain variable (IGHV) region somatic hypermutations (SHMs) in Korean patients with chronic lymphocytic leukemia (CLL). We also analyzed IGH and immunoglobulin kappa (IGK) to identify Korean-specific IGs in CLL.
Methods:
Next-generation sequencing (NGS)–based gene rearrangements and IGHV SHMs were assessed in 40 patients using IGH leader, IGH FR1, and IGK primers. Flow cytometry, karyotyping, interphase FISH, and NGS-based variant analyses were performed for 165 genes.
Results:
Clonal IGH and IGK rearrangements were detected in 100.0% and 97.5% of patients, respectively. Clonal size was generally smaller per NGS than per flow cytometry, particularly when using the IGH leader (median: 52.5%) versus the IGH FR1 primer set (73.2%). IGHV SHMs occurred in approximately 70% of patients; 10% showed primer set discrepancies. The incidence of IGHV SHMs was low in patients at high risk (i.e., with TP53 abnormalities; complex karyotypes; and ATM, NOTCH1, SF3B1, or BIRC3 variants). IGHV3 was the most common IGHV (58.3%), and IGHV4-34 was most frequently identified (14.6%). IGHV1 and IGHV1-69 usage differed significantly between Koreans and westerners. IGHJ4 was the most common IGHJ (56.3%). A single IGKV–IGKJ gene rearrangement was most frequently observed (18.9%), whereas intron-KDE was the most common rearrangement (30.6%).
Conclusions
NGS may underestimate CLL clonal size, particularly when using the IGH leader primer set. IGHV SHMs were inversely associated with negative prognostic factors.Our data suggest ethnic differences in CLL pathogenesis.
2.Progesterone receptor expression and its prognostic role in hormone receptor-positive/human epidermal growth factor receptor 2-positive breast cancer: a retrospective cohort study
Ji Hye KIM ; Yeryung KIM ; Jai Hyun CHUNG ; Yong Yeup KIM ; Woo Young KIM ; Jae Bok LEE ; Sang Uk WOO
Annals of Surgical Treatment and Research 2026;110(2):112-118
Purpose:
While progesterone receptor (PR) negativity in luminal-type breast cancer is generally associated with worse oncologic outcomes, its prognostic role in estrogen receptor (ER)-positive, human epidermal growth factor receptor 2 (HER2)-positive breast cancer remains underexplored. This study aimed to evaluate the prognostic significance of PR expression in ER-positive, HER2-positive breast cancer.
Methods:
A retrospective analysis was conducted on patients diagnosed with ER-positive, HER2-positive breast cancer who underwent primary surgery at Korea University Guro Hospital between January 2009 and December 2019. Patients were grouped by PR expression as negative/low (Allred score, 0–6) or strongly positive (Allred score,7 or 8). Prognostic outcomes, including disease-free survival (DFS), distant recurrence-free survival (DRFS), and breast cancer-specific survival (BCSS) were analyzed.
Results:
A total of 223 patients were included. Patients in the negative/low PR group were older compared to the strongly positive PR group. The negative/low PR group showed significantly worse DFS (P = 0.005) and DRFS (P = 0.014) but showed no significant difference in BCSS (P = 0.153). On multivariate analysis, negative or low PR expressions were linked to inferior DFS (hazard ratio [HR], 3.10; 95% confidence interval [CI], 1.34–7.16; P = 0.008) and DRFS (HR, 9.55; 95% CI, 1.22– 74.77; P = 0.032).
Conclusion
In ER-positive, HER2-positive breast cancer, negative or weak PR expression was associated with inferior DFS and DRFS compared to strong PR expression. These findings highlight the potential prognostic value of PR status in this group, underscoring its relevance in guiding treatment and follow-up strategies for more individualized patient care.
3.Safety and Effectiveness of Eribulin in Patients with Advanced or Metastatic Breast Cancer Previously Treated with Anthracyclines and Taxanes in Real-World Clinical Practice: A 6-Year Post-marketing Surveillance Study in South Korea
Yee Soo CHAE ; Kyung A KWON ; Moon Hee LEE ; Mi Sun AHN ; Kyung-Hun LEE ; Su-Jin KOH ; Joohyuk SOHN ; Keon Uk PARK ; Min Young KIM ; Youngji PYO ; Bo Young KIM ; Kyung Hae JUNG
Cancer Research and Treatment 2026;58(2):513-524
Purpose:
This 6-year post-marketing surveillance (PMS) study was conducted in South Korea to evaluate the real-world safety and effectiveness of eribulin in patients with advanced or metastatic breast cancer previously treated with anthracyclines and taxanes.
Materials and Methods:
During the study period (17 August 2012 to 16 August 2018), case-report files (CRFs) of patients receiving eribulin were collected. The main study endpoint was to assess the safety of eribulin. Evaluation of the effectiveness of eribulin was an exploratory endpoint. Patients were followed for 1 year after eribulin initiation.
Results:
CRFs were collected from 64 investigators at 64 sites for 1,079 patients. The safety analysis set (SAS) included 1,001 eribulin recipients; effectiveness was assessed in 244 patients. In the SAS, patients were predominantly female (99.6%), with a median age of 53.0 years, and diagnosed with metastatic breast cancer (92.0%). Eribulin was administered as a median 4th line chemotherapy. A total of 2,124 treatment-emergent adverse events (TEAEs) were reported in 661 patients (66.0%). Neutropenia was the most common TEAE (32.5% of patients), occurring at a median of 9-11 days from initial eribulin administration. Overall response and disease control rates were 31.7% and 95.6%, respectively, and the median duration of eribulin use (time to treatment failure) was 3.0 months.
Conclusion
This large real-world PMS analysis in patients with advanced or metastatic breast cancer demonstrated the effectiveness of eribulin and found no new safety concerns relative to safety information from prior clinical and real-world studies, and approvals in South Korea and other countries.
4.Delayed Retroperitoneal Hematoma Following Intradiscal Electrothermal Therapy: A Case Report of a Rare Complication
Jun-Yong CHA ; Yun-Young PARK ; Jin-Uk KIM ; Jun-Ho LEE ; Seong-Hwan MUN ; Gun AHN ; Il-Tae JANG
The Nerve 2026;12(1):36-40
Intradiscal electrothermal therapy (IDET) is a minimally invasive procedure used to treat discogenic back pain and offers an alternative to surgical intervention in selected patients. Although it is generally considered safe, rare but significant complications can occur and may be difficult to diagnose because their symptoms overlap with those of other spinal conditions. We describe the case of a 69-year-old woman who presented with severe lower back and left buttock pain that was unresponsive to conservative treatment. Magnetic resonance imaging revealed disc bulging with a high-intensity zone at the L4–5 and L5–S1 levels. IDET was performed at the L4–5 level, resulting in initial pain relief. However, the patient returned 7 days later with recurrent pain. Despite undergoing percutaneous epidural neuroplasty at the left L5–S1 level, a medial branch block, and a piriformis muscle block, her symptoms persisted. Further evaluation with spinal computed tomography revealed a retroperitoneal hematoma near the left psoas muscle. Referred pain from the hematoma mimicked discogenic pain, resulting in delayed diagnosis and unnecessary interventions. The patient remained hemodynamically stable and gradually improved with conservative management alone. This case highlights retroperitoneal hematoma as a rare complication of IDET and emphasizes the importance of accurate and timely diagnosis in patients with persistent or worsening symptoms after spinal procedures. Clinicians should consider non-discogenic sources of pain when treatment outcomes deviate from expected patterns.
5.Constitutional Chromosome 21 Abnormality in B-ALL with iAMP21 in a Patient Developing Treatment-Related Myelodysplastic Syndrome
Inhwa KIM ; Su Hyun YOON ; Sunghan KANG ; Kyung-Nam KOH ; Mi Young KIM ; Young-Uk CHO ; Sang-Hyun HWANG ; Seongsoo JANG ; Eul-Ju SEO ; Beom Hee LEE ; Sunghee MIN ; Hyunwoo BAE ; Ho Joon IM ; Hyery KIM
Clinical Pediatric Hematology-Oncology 2025;32(1):23-28
The initial molecular cytogenetic characteristics of blasts plays a significant role in determining the treatment course of B-cell acute lymphoblastic leukemia (B-ALL).B-ALL with intrachromosomal amplification of chromosome 21 (iAMP21) has been well known to have unfavorable prognosis. Also, there are previously recognized germline mutations that increase the risk of ALL, such as trisomy 21, Down syndrome. This case report is about a 16-year-old girl who presented with lymphadenitis, purpura, and fever followed by initial lab of elevated white blood cell with blasts.She had some notable facial features, but no typical Down syndrome related one.Bone marrow biopsy and fluorescence in situ hybridization finalized the diagnosis as B-ALL with iAMP21, high-risk group. The minimal residual disease-negative complete remission was achieved after the induction chemotherapy with Korean multicenter high-risk protocol. However, abnormal karyotype was sustained in bone marrow. Microarrays with her buccal swab raised the possibility that the abnormal karyotype was not from the leukemic blasts but rather from the germline. Although she underwent scheduled chemotherapy uneventfully as slow early responder type, thrombocytopenia and abnormal karyotype persisted, leading to the diagnosis of acute myeloid leukemia. Additional chemotherapy and peripheral blood stem cell transplantation was performed which resulted in engraftment. This case highlights the discovery of a constitutional genetic aberration, which played like a silent yet critical background factor for B-ALL with iAMP21. As the number of reported cases are limited, the role of germline chromosome 21 mutation as the indicator for prognosis of B-ALL should be studied further.
6.Comparing Outcomes between Cage Alone and Plate Fixation in Single-Level Anterior Cervical Fusion: A Retrospective Clinical Series
Jae-Won SHIN ; Han-Bin JIN ; Yung PARK ; Joong-Won HA ; Hak-Sun KIM ; Kyung-Soo SUK ; Sung-Hwan MOON ; Si-Young PARK ; Byung-Ho LEE ; Ji-Won KWON ; In-Uk KIM
Clinics in Orthopedic Surgery 2025;17(3):417-426
Background:
To identify the optimal surgical technique for single-level anterior cervical discectomy and fusion (ACDF), this study compared surgical outcomes and incidence of adjacent segment degeneration (ASD) in patients undergoing single-level ACDF using cage alone single-level fusion and plate fixation techniques.
Methods:
This single-center retrospective study (2003–2018) included patients who underwent single-level ACDF with either plate fixation (PLATE) or cage (CAGE) alone. The radiologic and clinical outcomes between the 2 surgical groups were compared over a 4-year follow-up period. Outcomes of interest included parameters related to range of motion, sagittal alignment, as well as fusion, subsidence, and ASD rates. Clinical outcomes were evaluated using the Neck Disability Index (NDI) and visual analog scale (VAS) for pain. Dysphagia and hoarseness rates were estimated based on medical records.
Results:
Forty-seven patients were included (n=17 in CAGE group). In the CAGE group, 94.1% of the patients had Bridwell grade 1 or 2, compared to 83.3% in the PLATE group (p = 0.396). Subsidence occurred in 12.5% and 3.6% of the CAGE and PLATE cases, respectively (p = 0.543). Segmental kyphosis progressed in the CAGE group compared to the PLATE group at 12, 24, and 48 months (p < 0.001). Radiographic ASD was observed in 41.2% and 30.0% of patients in the CAGE and PLATE groups, respectively, with a higher incidence in the upper segments for both groups. Preoperative NDI scores were similar between the groups; however, postoperatively, the CAGE group had significantly lower NDI scores (3.50 ± 2.74 vs. 8.00 ± 5.81) at 4 years (p = 0.020). Neck pain VAS scores also showed significant improvement in the CAGE group (2.33 ± 2.94) compared with that in the PLATE group (3.07 ± 2.31) at 4 years (p = 0.045). Both groups showed comparable arm pain VAS scores at 2 and 4 years postoperatively. Postoperative dysphagia occurred in 1 patient in the PLATE group, resolving almost completely by 1 year.
Conclusions
Single-level ACDF using a cage alone technique demonstrated favorable radiologic and clinical outcomes overall compared to plate-augmented ACDF. However, plate augmentation is recommended for patients with severe cervical kyphosis or those at high risk of subsidence.
7.Long-term Clinical Efficacy of Radiotherapy for Patients with Stage I-II Gastric Extranodal Marginal Zone B-Cell Lymphoma of Mucosa-Associated Lymphoid Tissue: A Retrospective Multi-institutional Study
Jae Uk JEONG ; Hyo Chun LEE ; Jin Ho SONG ; Keun Yong EOM ; Jin Hee KIM ; Yoo Kang KWAK ; Woo Chul KIM ; Sun Young LEE ; Jin Hwa CHOI ; Kang Kyu LEE ; Jong Hoon LEE
Cancer Research and Treatment 2025;57(2):570-579
Purpose:
This study aimed to evaluate long-term treatment outcomes in patients with localized gastric mucosa-associated lymphoid tissue (MALT) lymphoma treated with radiotherapy (RT).
Materials and Methods:
A total of 229 patients who received RT in 10 tertiary hospitals between 2010 and 2019 were included in this multicenter analysis. Response after RT was based on esophagogastroduodenoscopy after RT. Locoregional relapse-free survival (LRFS) and disease-free survival (DFS), and overall survival (OS) were evaluated.
Results:
After a median follow-up time of 93.2 months, 5-year LRFS, DFS, and OS rates were 92.8%, 90.4%, and 96.1%, respectively. LRFS, DFS, and OS rates at 10 years were 90.3%, 87.7%, and 92.8%, respectively. Of 229 patients, 228 patients (99.6%) achieved complete remission after RT. Five-year LRFS was significantly lower in patients with stage IIE than in those with stage IE (77.4% vs. 94.2%, p=0.047). Patients with age ≥ 60 had significantly lower LRFS than patients with age < 60 (89.3% vs. 95.1%, p=0.003). In the multivariate analysis, old age (≥ 60 years) was a poor prognostic factor for LRFS (hazard ratio, 3.72; confidence interval, 1.38 to 10.03; p=0.009). Grade 2 or higher gastritis was reported in 69 patients (30.1%). Secondary malignancies including gastric adenocarcinoma, malignant lymphoma, lung cancer, breast cancer, and prostate cancer were observed in 11 patients (4.8%) after RT.
Conclusion
Patients treated with RT for localized gastric MALT lymphoma showed favorable 10-year outcomes. Radiation therapy is an effective treatment without an increased risk of secondary cancer. The toxicity for RT to the stomach is not high.
8.Effects of immediate extubation in the operating room on long-term outcomes in living donor liver transplantation: a retrospective cohort study
Jung-Pil YOON ; Ji-Uk YOON ; Hye-Jin KIM ; Seyeon PARK ; Yeong Min YOO ; Hong-Sik SHON ; Da Eun LEE ; Eun-Jung KIM ; Hee Young KIM
Anesthesia and Pain Medicine 2025;20(1):50-60
Background:
Living-donor liver transplantation (LDLT) is a viable alternative to deceased-donor liver transplantation. Enhanced recovery after surgery protocols that include early extubation offer short-term benefits; however, the effect of immediate extubation in the operating room (OR) on long-term outcomes in patients undergoing LDLT remains unknown. We hypothesized that immediate OR extubation is associated with improved long-term outcomes in patients undergoing LDLT.
Methods:
This retrospective cohort study included 205 patients who underwent LDLT. The patients were classified based on the extubation location as OREX (those extubated in the OR) or NOREX (those extubated in the intensive care unit [ICU]). The primary outcome was overall survival (OS), while secondary outcomes included ICU stay, hospital stay duration, and various postoperative outcomes.
Results:
Among the 205 patients, 98 (47.8%) underwent extubation in the OR after LDLT. Univariate analysis revealed that OR extubation did not significantly affect OS (hazard ratio [HR]: 0.50, 95% confidence interval [CI]: 0.24–1.05; P = 0.066). Furthermore, multivariate analysis revealed no statistically significant association between OR extubation and OS (HR: 0.79, 95% CI: 0.35–1.80; P = 0.580). However, OR extubation was significantly associated with a lower incidence of 30-day composite complications and shorter ICU and hospital stays. Multivariate analysis indicated that higher preoperative platelet counts, increased serum creatinine levels, and a longer surgery duration were associated with poorer OS.
Conclusions
Immediate OR extubation following LDLT surgery was associated with fewer 30-day composite complications and shorter ICU and hospital stays; however, it did not significantly improve OS compared with ICU extubation.
9.A survey of anesthesiologists aged 60 years and older in Korea: current status, challenges, and future strategies
Won Uk KOH ; Shamin Ara SULTANA ; Jong Ho KIM ; So Young LIM ; Sang woo KIM ; Sung Mi HWANG ; Youngsuk KWON ; Jae Jun LEE ; Hong Seuk YANG
Anesthesia and Pain Medicine 2025;20(1):86-97
Background:
As the global population ages, medical professionals are also aging. This study investigates the status of Korean anesthesiologists over the age of 60.
Methods:
Anesthesiologists aged 60 and older, residing and working in Korea, were invited to participate in this study via e-mail from February to March 2021 and by mail from June to August 2021. The survey consisted of 40 questions covering 10 topics, including health status, residence, work style, and economic status. Depending on the type of question, answers were ranked on a scale of 1, 2, and 3, with the most preferred response being selected.
Results:
A total of 63 responses were received, resulting in a response rate of 26.5%. Among the respondents, 56 were currently practicing as anesthesiologists and reported satisfaction with their clinical practice and life status. On average, they treated 24 patients per day without experiencing significant discomfort or inconvenience in their roles as senior physicians. Twenty-four respondents acknowledged physical discomfort related to aging, and nine expressed cautions regarding age-related changes. Fifty-two respondents indicated that reeducation for advanced medical practice as anesthesiologists was necessary.
Conclusions
Senior anesthesiologists in Korea are primarily working in secondary and tertiary hospitals and are satisfied with their current life status. A comprehensive evaluation of reeducation programs for advanced clinical practice and retirement strategies for senior anesthesiologists is needed to address the growing number of aging physicians in the workforce.
10.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.

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