Purpose: Exon 20 insertion mutations (E20ins) in epidermal growth factor receptor (EGFR) or human epidermal growth factor receptor 2 (HER2) in non–small cell lung cancer (NSCLC) patients has become more important with emergence of novel agents targeting E20ins. Materials and Methods: Advanced/Metastatic NSCLC patients with E20ins were included. EGFR E20ins was identified by two methods, next-generation sequencing (NGS) or real-time polymerase chain reaction (PCR), while HER2 E20ins was done by NGS only. Results: Between December 2013 and July 2021, E20ins were identified in 107 patients at Asan Medical Center; 67 EGFR E20ins and 40 HER2 E20ins. Out of 32 patients with EGFR E20ins who had tested both PCR and NGS, 17 were identified only through NGS and the other 15 through both tests, giving a discordance rate of 53.1%. There was no clinically significant difference in clinicopathologic features between EGFR and HER2 E20ins; both were observed more frequently in adenocarcinoma, female and never-smokers. Brain metastases were evident at diagnosis in 31.8% of EGFR E20ins and 27.5% of HER2 E20ins, respectively. Platinum-based doublets demonstrated objective response rates (ORR) of 13.3% with a median progression-free survival (PFS) of 4.2 months for EGFR E20ins and 35.3% with 4.7 months for HER2 E20ins, respectively. In contrast, novel EGFR E20ins-targeted agents exhibited an ORR of 46.2% with a median PFS of 5.4 months, while HER2-targeted agents showed an ORR of 50% with that of 7.0 months. Conclusion Identification of EGFR and HER2 E20ins is more important as their targeted therapies improved outcomes. Upfront NGS test as a comprehensive molecular approach is strongly warranted.

Purpose: The benefit of adjuvant chemotherapy following curative-intent surgery in pancreatic ductal adenocarcinoma (PDAC) patients who had received neoadjuvant FOLFIRINOX is unclear. This study aimed to assess the survival benefit of adjuvant chemotherapy in this patient population. Materials and Methods: This retrospective study included 218 patients with localized non-metastatic PDAC who received neoadjuvant FOLFIRINOX and underwent curative-intent surgery (R0 or R1) between January 2017 and December 2020. The association of adjuvant chemotherapy with disease-free survival (DFS) and overall survival (OS) was evaluated in overall patients and in the propensity score matched (PSM) cohort. Subgroup analysis was conducted according to the pathology-proven lymph node status. Results: Adjuvant chemotherapy was administered to 149 patients (68.3%). In the overall cohort, the adjuvant chemotherapy group had significantly improved DFS and OS compared to the observation group (DFS: median, 13.8 months [95% confidence interval (CI), 11.0 to 19.1] vs. 8.2 months [95% CI, 6.5 to 12.0]; p < 0.001; and OS: median, 38.0 months [95% CI, 32.2 to not assessable] vs. 25.7 months [95% CI, 18.3 to not assessable]; p=0.005). In the PSM cohort of 57 matched pairs of patients, DFS and OS were better in the adjuvant chemotherapy group than in the observation group (p < 0.001 and p=0.038, respectively). In the multivariate analysis, adjuvant chemotherapy was a significant favorable prognostic factor (vs. observation; DFS: hazard ratio [HR], 0.51 [95% CI, 0.36 to 0.71; p < 0.001]; OS: HR, 0.45 [95% CI, 0.29 to 0.71; p < 0.001]). Conclusion Among PDAC patients who underwent surgery following neoadjuvant FOLFIRINOX, adjuvant chemotherapy may be associated with improved survival. Randomized studies should be conducted to validate this finding.

Background: Remdesivir is widely used for the treatment of coronavirus disease 2019 (COVID-19), but controversies regarding its efficacy still remain. Methods: A retrospective cohort study was conducted to evaluate the effect of remdesivir on clinical and virologic outcomes of severe COVID-19 patients from June to July 2020. Primary clinical endpoints included clinical recovery, additional mechanical ventilator (MV) support, and duration of oxygen or MV support. Viral load reduction by hospital day (HD) 15 was evaluated by calculating changes in cycle threshold (Ct) values. Results: A total of 86 severe COVID-19 patients were evaluated including 48 remdesivirtreated patients. Baseline characteristics were not significantly different between the two groups. Remdesivir was administered an average of 7.42 days from symptom onset. The proportions of clinical recovery of the remdesivir and supportive care group at HD 14 (56.3% and 39.5%) and HD 28 (87.5% and 78.9%) were not statistically different. The proportion of patients requiring MV support by HD 28 was significantly lower in the remdesivir group than in the supportive care group (22.9% vs. 44.7%, P = 0.032), and MV duration was significantly shorter in the remdesivir group (average, 1.97 vs. 5.37 days; P = 0.017). Analysis of upper respiratory tract specimens demonstrated that increases of Ct value from HD 1–5 to 11–15 were significantly greater in the remdesivir group than the supportive care group (average, 10.19 vs. 5.36; P = 0.007), and the slope of the Ct value increase was also significantly steeper in the remdesivir group (average, 5.10 vs. 2.68; P = 0.007). Conclusion The remdesivir group showed clinical and virologic benefit in terms of MV requirement and viral load reduction, supporting remdesivir treatment for severe COVID-19.

Background: Remdesivir is widely used for the treatment of coronavirus disease 2019 (COVID-19), but controversies regarding its efficacy still remain. Methods: A retrospective cohort study was conducted to evaluate the effect of remdesivir on clinical and virologic outcomes of severe COVID-19 patients from June to July 2020. Primary clinical endpoints included clinical recovery, additional mechanical ventilator (MV) support, and duration of oxygen or MV support. Viral load reduction by hospital day (HD) 15 was evaluated by calculating changes in cycle threshold (Ct) values. Results: A total of 86 severe COVID-19 patients were evaluated including 48 remdesivirtreated patients. Baseline characteristics were not significantly different between the two groups. Remdesivir was administered an average of 7.42 days from symptom onset. The proportions of clinical recovery of the remdesivir and supportive care group at HD 14 (56.3% and 39.5%) and HD 28 (87.5% and 78.9%) were not statistically different. The proportion of patients requiring MV support by HD 28 was significantly lower in the remdesivir group than in the supportive care group (22.9% vs. 44.7%, P = 0.032), and MV duration was significantly shorter in the remdesivir group (average, 1.97 vs. 5.37 days; P = 0.017). Analysis of upper respiratory tract specimens demonstrated that increases of Ct value from HD 1–5 to 11–15 were significantly greater in the remdesivir group than the supportive care group (average, 10.19 vs. 5.36; P = 0.007), and the slope of the Ct value increase was also significantly steeper in the remdesivir group (average, 5.10 vs. 2.68; P = 0.007). Conclusion The remdesivir group showed clinical and virologic benefit in terms of MV requirement and viral load reduction, supporting remdesivir treatment for severe COVID-19.

Hu5F9-G4, an immunoglobulin 4 (IgG4) monoclonal humanized antibody targeting CD47, is under active clinical trials as a novel immunotherapeutic for hematologic and solid malignancies and can cause pretransfusion testing interference. In this study, we demonstrate our first experience of Hu5F9-G4 interference with serologic testing and mitigate this interference through multiple platelet alloadsorption. A 69-year-old woman with a history of ureter cancer presented with anemia. On routine blood group typing, the patient showed strong agglutination (4+) with anti-A, A, and B cells. Unexpectedly, antibody screening and identification showed panreactivity to all panel cells, although the autocontrol result was negative. Medical records revealed that she was enrolled in an anti-CD47 clinical trial. To eliminate interference by the drug, we attempted alloadsorption using pooled platelets that were prepared from segments of random single donor platelets. After seven alloadsorption sessions using pooled allogeneic platelets, the ABO discrepancy and panreactivity was resolved. To our knowledge, this is the first demonstration of anti-CD47 interference elimination in Korea.

Hu5F9-G4, an immunoglobulin 4 (IgG4) monoclonal humanized antibody targeting CD47, is under active clinical trials as a novel immunotherapeutic for hematologic and solid malignancies and can cause pretransfusion testing interference. In this study, we demonstrate our first experience of Hu5F9-G4 interference with serologic testing and mitigate this interference through multiple platelet alloadsorption. A 69-year-old woman with a history of ureter cancer presented with anemia. On routine blood group typing, the patient showed strong agglutination (4+) with anti-A, A, and B cells. Unexpectedly, antibody screening and identification showed panreactivity to all panel cells, although the autocontrol result was negative. Medical records revealed that she was enrolled in an anti-CD47 clinical trial. To eliminate interference by the drug, we attempted alloadsorption using pooled platelets that were prepared from segments of random single donor platelets. After seven alloadsorption sessions using pooled allogeneic platelets, the ABO discrepancy and panreactivity was resolved. To our knowledge, this is the first demonstration of anti-CD47 interference elimination in Korea.

PURPOSE: This study aimed to determine the clinical and pathological factors associated with a higher rate of positive or close margins after breast-conserving surgery (BCS) by comparing these patients to patients with a negative margin. The second aim was to evaluate intraoperative resection margin status and reoperation rates for margin control in patients who underwent BCS. METHODS: We reviewed the clinical and pathological data of all women diagnosed with invasive breast carcinoma (IBC) and ductal carcinoma in situ (DCIS) at our institution between January 2006 and December 2016. RESULTS: During the 10-year study period, 785 patients were diagnosed with either IBC or DCIS, and 402 of these patients had undergone a total mastectomy as the primary treatment. The remaining 383 patients who underwent BCS were included in the final analysis. Of these, 100 patients (26.1%) had intraoperative positive or close margins. The remaining 283 patients (73.9%) had a negative margin intraoperatively, but 32 of these patients had positive or close margins on permanent sections. In the multivariate analyses, microcalcifications on mammograms (vs. none; odds ratio [OR], 1.911; 95% confidence interval [CI], 1.156−3.160), in situ carcinomas larger than 2.0 cm (vs. ≤2.0 cm; OR, 3.106; 95% CI, 1.193−8.086), and lumpectomy (vs. quadrantectomy; OR, 2.863; 95% CI, 1.268−6.622) showed a significant association with a positive or close surgical margins. Patients with intraoperative positive or close margins underwent more reoperation than those with negative margins (5.0% vs. 2.8%). CONCLUSION: After BCS, microcalcifications on mammograms, large-sized in situ carcinomas, and lumpectomy were more likely to have positive or close margins.
Breast Neoplasms* ; Breast* ; Carcinoma, Intraductal, Noninfiltrating ; Female ; Humans ; Mastectomy ; Mastectomy, Segmental* ; Mastectomy, Simple ; Multivariate Analysis ; Odds Ratio ; Reoperation

Globoid cell leukodystrophy is a rare autosomal recessive disorder of the brain white-matter caused by galactosylceramidase deficiency; the disorder is classified into four types based on the age of onset. Approximately 80–85% of patients have an early infantile form, while 10–15% has a late infantile form. Globoid cell leukodystrophy leads to a progressive neurological deterioration, and affected patients rarely survive more than 2–3 years. Although many different treatments have been investigated over several decades, further research is still needed. Hematopoietic stem cell transplantation is the standard treatment for globoid cell leukodystrophy. Here, we report a case of symptomatic late-infantile globoid cell leukodystrophy treated with stem cell transplantation. After transplantation, disease progression ceased and cognitive and motor function improved. And a 6 months follow-up study using brain magnetic resonance imaging showed white matter involvement was increased. After that, annual follow-up brain magnetic resonance imaging showed a stable status of disease.
Age of Onset ; Brain ; Disease Progression ; Follow-Up Studies ; Galactosylceramidase ; Hematopoietic Stem Cell Transplantation* ; Hematopoietic Stem Cells* ; Humans ; Leukodystrophy, Globoid Cell* ; Magnetic Resonance Imaging ; Stem Cell Transplantation ; White Matter

BACKGROUND/AIMS: Several epidemiological studies have validated the association of interleukin gene polymorphisms with acute pancreatitis (AP) in different populations. However, there have been few studies in Asian ethnic groups. We aimed to investigate the relationships between inflammatory cytokine polymorphisms and AP as pilot research in a Korean ethnic group. METHODS: Patients who had been diagnosed with AP were prospectively enrolled. DNA was extracted from whole blood, and DNA sequencing was subsequently performed. Single-nucleotide polymorphisms (SNPs) of the interleukin 1β (IL1B), interleukin 1 receptor antagonist (IL1RN), and tumor necrosis factor α (TNFA) genes of patients with AP were compared to those of normal controls. RESULTS: Between January 2011 and January 2013, a total of 65 subjects were enrolled (40 patients with AP vs. 25 healthy controls). One intronic SNP (IL1RN −1129T>C, rs4251961) was significantly associated with the risk of AP (odds ratio, 0.304; 95% confidence interval, 0.095 to 0.967; p = 0.043). However, in our study, AP was not found to be associated with polymorphisms in the promoter regions of inflammatory cytokine genes, including IL1B (−118C>T, c47+242C>T, +3954C/T, and −598T>C) and TNFA (−1211T>C, −1043C>A, −1037C>T, −488G>A, and −418G>A). CONCLUSIONS: IL1RN −1129T>C (rs4251961) genotypes might be associated with a significant increase of AP risk in a Korean ethnic group.
Asian Continental Ancestry Group ; DNA ; Epidemiologic Studies ; Ethnic Groups* ; Genotype ; Humans ; Interleukins ; Introns ; Pancreatitis* ; Polymorphism, Genetic* ; Polymorphism, Single Nucleotide ; Promoter Regions, Genetic ; Prospective Studies ; Receptors, Interleukin-1 ; Sequence Analysis, DNA ; Tumor Necrosis Factor-alpha

Administration of a hyaluronic acid (HA) filler injection is a common aesthetic procedure widely used for facial soft-tissue augmentation. Owing to their low immunogenicity, hyaluronic acid fillers have rarely been linked with serious long-term adverse effects. Although generally safe, reports of adverse events linked to hyaluronic acid filler injection are increasing following its extensive usage globally. We describe the case of a 33-year-old woman who presented with multiple facial nodules at sites of filler injection. To the best of our knowledge, this is the first reported case of facial pseudocyst related to monophasic hyaluronic acid filler injection, in Korea.
Adult ; Female ; Humans ; Hyaluronic Acid* ; Korea