Purpose: In the modern era of precision medicine, next-generation sequencing (NGS) is employed for a variety of clinical purposes. The aim of this study was to investigate the trends and clinical characteristics of NGS testing in South Korea. Materials and Methods: This nationwide, population-based, retrospective cohort study examined National Health Insurance Service claims data from 2017 to 2021 for NGS and from 2008 to 2021 for gene-targeted anticancer drugs. Results: Among the total 98,748 claims, there were 51,407 (52.1%) solid cancer panels, 30,173 (30.5%) hereditary disease panels, and 17,168 (17.4%) hematolymphoid cancer panels. The number of annual claims showed a persistent upward trend, exhibiting a 5.4-fold increase, from 5,436 in 2017 to 29,557 in 2021. In the solid cancer panel, colorectal cancer was the most common (19.2%), followed by lung cancer (18.8%). The annual claims for targeted cancer drugs have increased 25.7-fold, from 3,932 in 2008 to 101,211 in 2020. Drugs for the treatment of lung cancer accounted for 488,819 (71.9%) claims. The number of patients who received non-hereditary NGS testing has substantially increased, and among them, the count of patients prescribed targeted anticancer drugs consistently rose from 508 (13.9%) in 2017 to 2,245 (12.3%) in 2020. Conclusion This study highlights the rising nationwide demand for comprehensive genetic testing for disease diagnosis and treatment following NGS reimbursement by the National Health Insurance in South Korea, in addition to the need for greater utilization of targeted anticancer drugs.

CD99 signaling is crucial to a diverse range of biological functions including survival and proliferation. CD99 engagement is reported to augment activator protein-1 (AP-1) activity through mitogen-activated protein (MAP) kinase pathways in a T-lymphoblastic lymphoma cell line Jurkat and in breast cancer cell lines. In this study, we report that CD99 differentially regulated AP-1 activity in the human myeloma cell line RPMI8226. CD99 was highly expressed and the CD99 engagement led to activation of the MAP kinases, but suppressed AP-1 activity by inducing the expression of basic leucine zipper transcription factor, ATF-like (BATF), a negative regulator of AP-1 in RPMI8226 cells. By contrast, engagement of CD99 enhanced AP-1 activity and did not change the BATF expression in Jurkat cells. CD99 engagement reduced the proliferation of RPMI8226 cells and expression of cyclin 1 and 3. Overall, these results suggest novel CD99 functions in RPMI8226 cells.
Breast Neoplasms ; Cell Line* ; Cyclins ; Humans* ; Jurkat Cells ; Leucine Zippers ; Lymphoma ; Multiple Myeloma* ; Phosphotransferases ; Transcription Factor AP-1* ; Transcription Factors

PURPOSE: To evaluate the usefulness of various radiographic imaging modalities in the diagnosis and characterization of melorheostosis. MATERIALS AND METHODS: We retrospectively evaluated the plain film (n=8), computed tomographic (CT) imaging (n=5) and magnetic resonance (MR) imaging (n=5) findings of eight patients with melorheostosis diagnosed by bone biopsy (n=4) and characteristic radiographic findings (n=8). MR images were obtained with a 1.5-T scanner focused on the region of maximal radiographic abnormality. Pulse sequences include T1-weighted SE, T2-weighted fast SE (n=5) and postcontrast imaging (n=4). In order to define subtle enhancement of the lesions, subtraction MR images were obtained in one case. Imaging findings were analyzed with particular emphasis on the distribution of lesions along the sclerotome, differential radiographic findings between diaphyseal and metaepiphyseal lesions of the long bones, as seen on plain radiographs, and the density and signal characteristics of hyperostotic, lesions, as seen on CT and MR images. RESULTS: Characteristic distribution along the sclerotome was identified in five of eight cases mainly along C6 and 7 (n=2) and L3, 4 and 5 (n=3) sclerotomes. In diaphyseal melorherostosis (8/8), a characteristic finding, i.e., a wax flowing down from the candle, was identified on plain radiographs. In all three patients with metaepiphyseal melorheostosis (3/8), multiple round or oval hyperostotic lesions were seen in the epiphysis and metaphysis of the long bones. On CT, the marrow cavity was partly obliterated by hyperostotic lesions in all five patients with endosteal hyperostosis. Among these, central ground glass opacity with a sclerotic rim was seen in three patients. Periosteal hyperostosis was seen in two of five cases, being visualized as irregular excrescences in the periosteal region and surrounding soft tissue. Individual hyperostosis was visualized as hypointense on T1-weighted images and as a hyperintense center with a surrounding hypointense rim on T2-weighted images (5/5). On postcontrast images, central enhancement was noted in all four cases. In one of these, in which the degree of central enhancement was subtle, subtraction images (postcontrast SE- precontrast SE) also revealed a central signal increment. Central enhancement corresponded to the hyperintense center seen on T2-weighted images (4/4) and the ground-glass opacity seen on CT (2/2). CONCLUSION: Radiographic imaging plays a crucial role in the diagnosis of melorheostosis. The future role of gadolinium-enhanced MR imaging in the characterization of the lesion may be important though further evaluation and pathologic correlation is required.
Biopsy ; Bone Marrow ; Diagnosis ; Epiphyses ; Glass ; Humans ; Hyperostosis ; Magnetic Resonance Imaging* ; Melorheostosis* ; Retrospective Studies

Background and Objectives: Prior studies have shown that stroke patients treated with percutaneous left atrial appendage occlusion (LAAO) for non-valvular atrial fibrillation (NVAF) experience better outcomes than similar patients treated with warfarin. We investigated the impact of percutaneous left atrial appendage closure on post-stroke neurological outcomes in NVAF patients, compared with non-vitamin K antagonist oral anticoagulant (NOAC) therapy. Methods: Medical records for 1,427 patients in multiple registries and for 1,792 consecutive patients at 6 Korean hospitals were reviewed with respect to LAAO or NOAC treatment.Stroke severity in patients who experienced ischemic stroke or transient ischemic attack after either treatment was assessed with modified Rankin Scale (mRS) scoring at hospital discharge and at 3 and 12 months post-stroke. Results: mRS scores were significantly lower in LAAO patients at 3 (p<0.01) and 12 months (p<0.01) post-stroke, despite no significant differences in scores before the ischemic cerebrovascular event (p=0.22). The occurrences of disabling ischemic stroke in the LAAO and NOAC groups were 36.7% and 44.2% at discharge (p=0.47), 23.3% and 44.2% at 3 months post-stroke (p=0.04), and 13.3% and 43.0% at 12 months post-stroke (p=0.01), respectively.Recovery rates for disabling ischemic stroke at discharge to 12 months post-stroke were significantly higher for LAAO patients (50.0%) than for NOAC patients (5.6%) (p<0.01). Conclusions Percutaneous LAAO was associated with more favorable neurological outcomes after ischemic cerebrovascular event than NOAC treatment.

Background and Objectives: Prior studies have shown that stroke patients treated with percutaneous left atrial appendage occlusion (LAAO) for non-valvular atrial fibrillation (NVAF) experience better outcomes than similar patients treated with warfarin. We investigated the impact of percutaneous left atrial appendage closure on post-stroke neurological outcomes in NVAF patients, compared with non-vitamin K antagonist oral anticoagulant (NOAC) therapy. Methods: Medical records for 1,427 patients in multiple registries and for 1,792 consecutive patients at 6 Korean hospitals were reviewed with respect to LAAO or NOAC treatment.Stroke severity in patients who experienced ischemic stroke or transient ischemic attack after either treatment was assessed with modified Rankin Scale (mRS) scoring at hospital discharge and at 3 and 12 months post-stroke. Results: mRS scores were significantly lower in LAAO patients at 3 (p<0.01) and 12 months (p<0.01) post-stroke, despite no significant differences in scores before the ischemic cerebrovascular event (p=0.22). The occurrences of disabling ischemic stroke in the LAAO and NOAC groups were 36.7% and 44.2% at discharge (p=0.47), 23.3% and 44.2% at 3 months post-stroke (p=0.04), and 13.3% and 43.0% at 12 months post-stroke (p=0.01), respectively.Recovery rates for disabling ischemic stroke at discharge to 12 months post-stroke were significantly higher for LAAO patients (50.0%) than for NOAC patients (5.6%) (p<0.01). Conclusions Percutaneous LAAO was associated with more favorable neurological outcomes after ischemic cerebrovascular event than NOAC treatment.