Purpose: Cancer poses a significant global health challenge, demanding precise genomic testing for individualized treatment strategies. Targeted-panel sequencing (TPS) has improved personalized oncology but often lacks comprehensive coverage of crucial cancer alterations. Whole-genome sequencing (WGS) addresses this gap, offering extensive genomic testing. This study demonstrates the medical potential of WGS. Materials and Methods: This study evaluates target-enhanced WGS (TE-WGS), a clinical-grade WGS method sequencing both cancer and matched normal tissues. Forty-nine patients with various solid cancer types underwent both TE-WGS and TruSight Oncology 500 (TSO500), one of the mainstream TPS approaches. Results: TE-WGS detected all variants reported by TSO500 (100%, 498/498). A high correlation in variant allele fractions was observed between TE-WGS and TSO500 (r=0.978). Notably, 223 variants (44.8%) within the common set were discerned exclusively by TE-WGS in peripheral blood, suggesting their germline origin. Conversely, the remaining subset of 275 variants (55.2%) were not detected in peripheral blood using the TE-WGS, signifying them as bona fide somatic variants. Further, TE-WGS provided accurate copy number profiles, fusion genes, microsatellite instability, and homologous recombination deficiency scores, which were essential for clinical decision-making. Conclusion TE-WGS is a comprehensive approach in personalized oncology, matching TSO500’s key biomarker detection capabilities. It uniquely identifies germline variants and genomic instability markers, offering additional clinical actions. Its adaptability and cost-effectiveness underscore its clinical utility, making TE-WGS a valuable tool in personalized cancer treatment.

Purpose: Cancer poses a significant global health challenge, demanding precise genomic testing for individualized treatment strategies. Targeted-panel sequencing (TPS) has improved personalized oncology but often lacks comprehensive coverage of crucial cancer alterations. Whole-genome sequencing (WGS) addresses this gap, offering extensive genomic testing. This study demonstrates the medical potential of WGS. Materials and Methods: This study evaluates target-enhanced WGS (TE-WGS), a clinical-grade WGS method sequencing both cancer and matched normal tissues. Forty-nine patients with various solid cancer types underwent both TE-WGS and TruSight Oncology 500 (TSO500), one of the mainstream TPS approaches. Results: TE-WGS detected all variants reported by TSO500 (100%, 498/498). A high correlation in variant allele fractions was observed between TE-WGS and TSO500 (r=0.978). Notably, 223 variants (44.8%) within the common set were discerned exclusively by TE-WGS in peripheral blood, suggesting their germline origin. Conversely, the remaining subset of 275 variants (55.2%) were not detected in peripheral blood using the TE-WGS, signifying them as bona fide somatic variants. Further, TE-WGS provided accurate copy number profiles, fusion genes, microsatellite instability, and homologous recombination deficiency scores, which were essential for clinical decision-making. Conclusion TE-WGS is a comprehensive approach in personalized oncology, matching TSO500’s key biomarker detection capabilities. It uniquely identifies germline variants and genomic instability markers, offering additional clinical actions. Its adaptability and cost-effectiveness underscore its clinical utility, making TE-WGS a valuable tool in personalized cancer treatment.

Purpose: Cancer poses a significant global health challenge, demanding precise genomic testing for individualized treatment strategies. Targeted-panel sequencing (TPS) has improved personalized oncology but often lacks comprehensive coverage of crucial cancer alterations. Whole-genome sequencing (WGS) addresses this gap, offering extensive genomic testing. This study demonstrates the medical potential of WGS. Materials and Methods: This study evaluates target-enhanced WGS (TE-WGS), a clinical-grade WGS method sequencing both cancer and matched normal tissues. Forty-nine patients with various solid cancer types underwent both TE-WGS and TruSight Oncology 500 (TSO500), one of the mainstream TPS approaches. Results: TE-WGS detected all variants reported by TSO500 (100%, 498/498). A high correlation in variant allele fractions was observed between TE-WGS and TSO500 (r=0.978). Notably, 223 variants (44.8%) within the common set were discerned exclusively by TE-WGS in peripheral blood, suggesting their germline origin. Conversely, the remaining subset of 275 variants (55.2%) were not detected in peripheral blood using the TE-WGS, signifying them as bona fide somatic variants. Further, TE-WGS provided accurate copy number profiles, fusion genes, microsatellite instability, and homologous recombination deficiency scores, which were essential for clinical decision-making. Conclusion TE-WGS is a comprehensive approach in personalized oncology, matching TSO500’s key biomarker detection capabilities. It uniquely identifies germline variants and genomic instability markers, offering additional clinical actions. Its adaptability and cost-effectiveness underscore its clinical utility, making TE-WGS a valuable tool in personalized cancer treatment.

Background: Uveitis is less common in children than in adults; however, pediatric uveitis has a relatively severe disease course that affects the quality of life. Although it is important to understand the epidemiological characteristics of pediatric uveitis, few studies have been conducted in large populations without referral bias. This study investigated the nationwide incidence and prevalence of pediatric uveitis in South Korea according to period, age, anatomic type, and systemic associations. Methods: This nationwide population-based cohort study used data from the Korean National Health Insurance Service from 2002 to 2018. This study included patients younger than 19 years of age with noninfectious uveitis with at least three claims of diagnostic codes of uveitis on separate days with at least once claim of prescription codes of steroid and immunosuppressive agents. All the cases were classified as anterior or non-anterior uveitis, and the overall incidence and prevalence were estimated by age, sex, and period. Patients with noninfectious uveitis were categorized by the presence of associated systemic conditions. Results: A total of 10,862,616 patients over 128,688,078 person-years were evaluated from 2005 to 2016. Overall, 5,368 cases of anterior uveitis and 604 cases of non-anterior uveitis were identified. The incidence and prevalence of pediatric noninfectious uveitis were 4.64 per 100,000 person-years (95% confidence interval [CI], 4.52–4.76) and 8.25 per 100,000 persons (95% CI, 8.09–8.41). Both the incidence and prevalence of pediatric uveitis increased with age. Anterior uveitis accounted for 84.7% of pediatric noninfectious uveitis prevalent cases (6.99 per 100,000 persons). Cases of juvenile idiopathic arthritis (JIA)-associated uveitis accounted for 8.7% (926 cases) of pediatric noninfectious uveitis cases with a prevalence of 0.72 per 100,000 (95% CI, 0.67–0.77). The proportion of systemic associations was higher and JIA-related uveitis accounted for 11.2% (803 cases) of recurrent or chronic noninfectious uveitis cases with a prevalence of 0.62 per 100,000. Conclusion This is the first population-based study investigating the largest population of pediatric patients with uveitis in Korea. The nationwide incidence and prevalence of pediatric noninfectious uveitis in 2005–2016 were 4.64 per 100,000 person-years and 8.25 per 100,000, respectively. The proportion of JIA in pediatric noninfectious uveitis was 8.7%.These population-based study findings provide a better understanding of the public health burden and aid in the planning of health-care strategies for pediatric patients with uveitis.

Purpose: To report a case of autosomal dominant drusen confirmed by molecular genetic testing and the clinical features and findings of a multimodal diagnostic imaging study.Case summary: A 32-year-old male presented with decreased visual acuity in his right eye from 1 year prior to his first visit. On the first visit, his visual acuities were 0.3 in the right eye and 1.2 in the left eye. A fundus examination showed numerous drusen of various sizes widely distributed on the posterior pole of both eyes, as well as subretinal fibrotic change with pigmentation in the right eye. Optical coherence tomography showed extensive hyperreflective deposits beneath the retinal pigment epithelium in both eyes and small amounts of cystic intraretinal fluid in the right eye. Fluorescein angiography and fundus autofluorescence showed the drusen as multiple hyperfluorescent spots, while indocyanine green angiography indicated hypofluorescence corresponding to the drusen. Genetic sequence analysis revealed a pathogenic variant of the EFEMP1 gene, heterozygous c.1033C>T (p.Arg345Trp), which accords with the diagnosis of autosomal dominant drusen. Intravitreal bevacizumab injection was given in the right eye; however, there was no improvement in the amount of intraretinal fluid nor visual acuity. Conclusions Autosomal dominant drusen is a very rare disease. It is necessary to distinguish it from age-related macular degeneration, as the affected age and clinical features of drusen are different, including the response to anti-vascular endothelial growth factor treatment.

Purpose: To describe the clinical characteristics and treatment outcomes of uveitis in patients with psoriasis in Korea. Methods: The medical records of 20 patients (27 eyes) with psoriatic uveitis in two tertiary hospitals were retrospectively reviewed. We analyzed data about patient demographics, uveitis types, laterality, onset of disease, human leukocyte antigen (HLA) types, intraocular pressure, visual acuity, comorbidities, and medical treatments and outcomes for uveitis and psoriasis. Results: The cohort comprised 11 males and nine females (age of onset, 50.1 ± 13.2 years) and the mean follow-up period was 3.9 ± 4.0 years. Types of uveitis included anterior (85%), intermediate (10%), and panuveitis (5%). A total of 13 (65%) cases presented with unilateral involvement and 12 out of 18 patients (66.7%) were positive for HLA-B27. The average intraocular pressure of affected eyes was 11.6 ± 3.6 at the first visit and 13.8 ± 3.6 mmHg at the final visit. The average logarithm of the minimum angle of resolution visual acuity of affected eyes at the initial examination was 0.16 ± 0.52 and 0.27 ± 0.71 at the last examination. Most common comorbidity (13 patients, 65%) was psoriatic arthritis (PsA). All cases underwent topical corticosteroid treatment; however, 11 (55%) required systemic corticosteroid and immunosuppressants for the treatment of uveitis. Notable deterioration in visual outcome was found in two cases (10%) due to severe intraocular inflammation and its complications (uveitic glaucoma and bullous keratopathy). Recurrent uveitis was observed in 57.9% of patients. Patients with PsA tended to have higher positive rate of HLA-B27 (83.3%). However, there was no significant correlation between visual prognosis and location of psoriatic uveitis, presence of PsA, and HLA-B27 positivity. Conclusions Psoriatic uveitis in Koreans usually presents with anterior uveitis with unilateral involvement. PsA was the most common comorbidity. In majority of patients, visual outcomes are satisfactory with appropriate topical or systemic immunosuppressive treatment.

Purpose: To evaluate the effect of adalimumab in pediatric uveitis and subsequent changes in anterior chamber inflammation following the inactivation of uveitis. Methods: In this retrospective study, patients with noninfectious uveitis younger than 18 years of age who were treated with adalimumab for more than 12 months were included. The rate of complete suppression and the relapse in anterior chamber inflammation following the initiation of adalimumab therapy were evaluated using anterior chamber cell score and laser flare photometry (LFP) values, if available. Changes in visual acuity and the sparing effect of topical steroid agents were also evaluated. Results: Among 22 eyes of 12 pediatric uveitis patients enrolled, 13 eyes were associated with juvenile idiopathic arthritis and nine eyes had idiopathic uveitis. The mean ± standard deviation age was 10.2 ± 3.6 years. Types of uveitis included ante-rior uveitis (n = 17) and panuveitis (n = 5). Quiescence was observed in 14 eyes (63.6%) at 3 months and in 21 eyes (95.5%) at 12 months after initiation, respectively. After achieving inactive uveitis, uveitis relapsed in two eyes at 6 months, even with adalimumab treatment. In 11 eyes, anterior chamber showed 0.5+ cell scores during the rest of the follow-up period and one of those eyes met the criteria for the relapse based on LFP values. The dosage of topical steroids decreased significantly at 3, 9, and 12 months after the initiation of therapy (p ≤ 0.05). Visual acuity did not show improvement. There were no severe adverse effects of anti-tumor necrosis factor-α treatment reported. Conclusions In this study, adalimumab achieved a quiescent state in most eyes with pediatric noninfectious uveitis for 12 months with a relapse rate of 9.5%. LFP values together with the anterior chamber cell score can be utilized to monitor the improvement or relapse in anterior chamber inflammation in pediatric noninfectious uveitis.

Cytomegalovirus (CMV) disease is rare in children who receive anticancer chemotherapy and have no history of stem cell transplantation (SCT). We report a case of CMV retinitis that developed during maintenance chemotherapy for acute leukemia. A 7-year-old boy developed decreased visual acuity and persistent pancytopenia during maintenance chemotherapy.Laboratory investigations initially showed significant CMV antigenemia (51 positive cells/200,000 leukocytes); however, antiviral therapy was not deemed necessary in this patient who had no history of SCT. CMV antigenemia worsened to 170 positive cells/200,000 leukocytes over 3 weeks. Ophthalmological examination revealed multiple bilateral retinal infiltrates and granular lesions. He was diagnosed with CMV retinitis and was treated with a 4-week course of intravenous ganciclovir and intravitreal injection of ganciclovir 6 times, followed by a 1-month course of orally administered valganciclovir. A CMV antigenemia assay showed negative results, and follow-up fundoscopy revealed lesser retinal infiltration after the sixth intravitreal ganciclovir injection. Future studies should focus on the development of standardized screening methods and preemptive therapeutic strategies for CMV disease in high-risk children.

Cytomegalovirus (CMV) disease is rare in children who receive anticancer chemotherapy and have no history of stem cell transplantation (SCT). We report a case of CMV retinitis that developed during maintenance chemotherapy for acute leukemia. A 7-year-old boy developed decreased visual acuity and persistent pancytopenia during maintenance chemotherapy.Laboratory investigations initially showed significant CMV antigenemia (51 positive cells/200,000 leukocytes); however, antiviral therapy was not deemed necessary in this patient who had no history of SCT. CMV antigenemia worsened to 170 positive cells/200,000 leukocytes over 3 weeks. Ophthalmological examination revealed multiple bilateral retinal infiltrates and granular lesions. He was diagnosed with CMV retinitis and was treated with a 4-week course of intravenous ganciclovir and intravitreal injection of ganciclovir 6 times, followed by a 1-month course of orally administered valganciclovir. A CMV antigenemia assay showed negative results, and follow-up fundoscopy revealed lesser retinal infiltration after the sixth intravitreal ganciclovir injection. Future studies should focus on the development of standardized screening methods and preemptive therapeutic strategies for CMV disease in high-risk children.