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Targeted Sequencing of Human Aorta Tissue Reveals Undiagnosed Heritable Thoracic Aortic Disease

2026-05-01T00:00:00Z

Title: Targeted Sequencing of Human Aorta Tissue Reveals Undiagnosed Heritable Thoracic Aortic Disease Authors: Lee, Ha; Kim, Yoonjung; Kim, Myeong Su; Lee, Kyung-A; Song, Suk-Won Abstract: Objectives To diagnose undiagnosed heritable thoracic aortic disease (HTAD) using targeted next-generation sequencing technology on human aorta tissue obtained from a single-centre biobank.Methods From May 2016 to November 2021, 622 patients undergoing surgical repair for thoracic aortic aneurysm or acute aortic syndrome donated blood or tissue samples to the research biobank. A total of 134 aortic tissue samples were retrieved from patients suspected of HTAD. The inclusion criteria were (1) family history, (2) age <= 45, (3) annuloaortic ectasia, (4) bicuspid aortic valve, (5) patent ductus arteriosus, (6) polycystic kidney disease, or (7) patients previously classified as variant of uncertain significance by germline sequencing (n = 17). Exclusion criteria included patients previously classified as likely pathogenic or pathogenic by germline sequencing. The targeted panel included 96 genes.Results A total of 29 variants were identified including FBN1, MYH11, COL11A1, SMAD3, SMAD6, ACTA2, COL3A1, FLNA, PKD2, THSD4, ACVRL1, and FBN2. A total of 27 patients (20.1%) had variants with 2 patients having digenic variants. Clinical data were combined with genetic data, and finally, 17 patients (12.7%) were additionally diagnosed with HTAD.Conclusions Genomic data analysis of human aortic tissue allowed for additional diagnoses of undiagnosed HTAD, contributing to resolving discrepancies between clinical and genomic data. Considering the surgical treatment of HTAD, human aortic tissue can be a valuable resource for genomic analysis. Thoracic aortic aneurysm (TAA), characterized by progressive dilatation of the thoracic aorta, may culminate in acute aortic syndrome (AAS), including dissection or rupture.

Seroprevalence of Japanese Encephalitis Virus, and Immunogenicity of the Vero-Cell Culture-Derived Vaccine in Hematopoietic Stem Cell Transplantation Recipients

2026-05-01T00:00:00Z

Title: Seroprevalence of Japanese Encephalitis Virus, and Immunogenicity of the Vero-Cell Culture-Derived Vaccine in Hematopoietic Stem Cell Transplantation Recipients Authors: Lee, Haejeong; Kang, Ji-Man; Kim, Minyoung; Park, Hyojung; Na, Bonhyang; Park, Younhee; Ahn, Jong Gyun; Lee, Eunyoung; Lee, Hyewon; Park, Hyeon Jin; Eom, Hyeon-Seok Abstract: Background: Revaccination against Japanese encephalitis virus (JEV) in adult hematopoietic stem cell transplantation (HSCT) recipients is not recommended because of insufficient data regarding its efficacy and immunogenicity. Therefore, we aimed to evaluate JEV seropositivity in adult HSCT recipients and explored the seroconversion rate in pediatric HSCT recipients after vaccination against JEV. Methods: This prospective study was conducted at the National Cancer Center, Goyang, Korea. Adult HSCT recipients (n = 103) were enrolled who visited the outpatient clinic. Additionally, pediatric recipients (< 19 years old; n = 11) who received JEV vaccination were enrolled. We collected serum samples from these participants and healthy healthcare workers (n = 50) for comparison. The JEV seropositivity rates and anti-JEV antibody titers were evaluated using the plaque reduction neutralization test. Results: The JEV seropositivity rates were significantly lower in adult HSCT recipients than in healthy healthcare workers (55% vs. 92%, P < 0.001). In addition, only one out of nine pediatric recipients tested seropositive before JEV vaccination. However, six out of seven were seropositive after two doses of vaccination. Furthermore, all three recipients who completed the three-dose vaccination schedule turned seropositive. No significant seropositivity-related factors were identified in the multivariate analysis. Conclusion: The low anti-JEV antibody seropositivity rate in Korean adult HSCT recipients indicates an increased vulnerability to this virus. Our findings provide a theoretical basis for the potential establishment of appropriate prevention strategies targeting this high-risk group.

Integrating Rapid Lymphoma Next-Generation Sequencing Panel-Based Testing into Routine Genomic Diagnostics

2026-05-01T00:00:00Z

Title: Integrating Rapid Lymphoma Next-Generation Sequencing Panel-Based Testing into Routine Genomic Diagnostics Authors: Shin, Saeam; Lee, Seung-Tae Abstract: [No abstract available]

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

2026-04-01T00:00:00Z

Title: Comparative evaluation of two NGS-based assays for somatic hypermutation analysis of IGHV genes in chronic lymphocytic leukemia Authors: Kang, Yehyun; Lee, Hyeonah; Park, Yu Jin; Lee, Seung-Tae; Choi, Jong Rak; Shin, Saeam Abstract: PurposeSomatic 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 both SHM status and clonal rearrangements. This study aimed to compare the performance of two commercially available NGS assays for evaluating IGH clonality and SHM status in CLL.MethodsIn this retrospective study, 42 samples from patients diagnosed with CLL were analyzed. Genomic DNA extracted from peripheral blood or bone marrow aspirates was analyzed using two commercial NGS assays: the LymphoTrack (R) IGHV Leader (Leader) and IGH FR1 (FR1) assays (Invivoscribe, CA, USA). SS was performed as the reference method for SHM assessment.ResultsThe Leader assay identified clonality in 95.2% of cases, whereas the FR1 assay detected clonality in 88.1%. Conclusive SHM status was determined in 90.5% of samples using the Leader assay and in 76.2% using the FR1 assay; when results from both assays were combined, the rate increased to 92.9%. Among samples with conclusive results by both SS and each NGS assay, the Leader assay demonstrated higher concordance with SS (97.1%, 34/35) than the FR1 assay (86.2%, 25/29). Greater variability in clonal detection was observed with the FR1 assay.ConclusionThese findings indicate that the Leader assay provides a more reliable assessment of SHM status, with higher concordance with SS. Although the FR1 assay may offer additional information regarding clonal patterns, its results should be interpreted cautiously. Given the limited sample size, further studies are warranted to validate these findings. Overall, the Leader assay appears to be more suitable as a primary tool for SHM evaluation, with FR1 results serving a complementary role when interpreted in clinical context.