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1.
Article in English | WPRIM | ID: wpr-913830

ABSTRACT

Purpose@#Certain patient subgroups who do not respond to induction chemotherapy (IC) show inherent chemoresistance in locally advanced head and neck squamous cell carcinoma (LA-HNSCC). This study aimed to assess the prognostic value of IC, and role of IC in guiding the selection of a definitive locoregional therapy. @*Materials and Methods@#Out of the 445 patients in multi-institutional LA-HNSCC cohort, 158 (36%) receiving IC were enrolled. The study outcome was to assess overall survival (OS) through IC responsiveness and its role to select subsequent treatments. @*Results@#Among 135 patients who completed subsequent treatment following IC, 74% responded to IC (complete response in 17% and partial response in 58%). IC-non-responders showed 4.5 times higher risk of mortality than IC-responders (hazard ratio, 4.52; 95% confidence interval, 2.32 to 8.81; p < 0.001). Among IC-responders, 84% subsequently received definitive concurrent chemoradiotherapy (CCRT) and OS was not differed by surgery or CCRT (p=0.960). Regarding IC-non-responders, 54% received CCRT and 46% underwent surgery, and OS was poor in CCRT (24-month survival rate of 38%) or surgery (24-month survival rate of 63%). @*Conclusion@#Response to IC is a favorable prognostic factor. For IC-responders, either surgery or CCRT achieved similar survival probabilities. For IC-non-responder, multidisciplinary approach was warranted reflecting patients’ preference, morbidity, and prognosis.

2.
Article in English | WPRIM | ID: wpr-913328

ABSTRACT

The incidence of coronavirus diseases 2019 (COVID-19), including severe cases, has been increasing in both children and adolescents with the spread of the delta variant. COVID-19 vaccines have been identified to be effective in the prevention of COVID-19transmission in children and adolescents and keeping schools open. However, adverse reactions associated with COVID-19 vaccination in children and adolescents contribute to parents’ hesitation to proceed with vaccination, especially due to serious, albeit rare, reactions. The results from COVID-19 vaccine clinical trials on the safety and efficacy of COVID-19 vaccines in children and adolescents are promising in terms of their effects on COVID-19 infection prevention. In the present study, we summarize the adverse reactions of COVID-19 vaccines in children and adolescents, based on the clinical trials, mainly including Pfizer-BioNTech and Moderna COVID-19 vaccines. In the Pfizer-BioNTech COVID-19 clinical trials, the most common local adverse reaction was pain at the injection site in 74.1%–86%, depending on age, and the most common systemic adverse reaction was fatigue, followed by headache, myalgia, diarrhea, and fever with differences in the distribution according to age. There was no severe adverse reaction related to any COVID-19 vaccine in children and adolescents during the study period. In the mass vaccination program of COVID-19 in children and adolescent, myocarditis has rarely been diagnosed after COVID-19 vaccination, which most commonly occurred in boys after the second dose. Currently, Pfizer-BioNTech COVID-19 vaccines can be safely recommended in children and adolescents for the prevention of COVID-19 infection and the reduction in COVID-19 severity.

3.
Article in English | WPRIM | ID: wpr-917655

ABSTRACT

Background@#Recessive dystrophic epidermolysis bullosa (RDEB) manifests in various cutaneous and extracutaneous complications that lead to considerable morbidity and mortality, however, no precise incidence data are available. @*Objective@#To investigate the prevalence of inherited epidermolysis bullosa (EB) stratified by subtypes, demographics, and clinical characteristics in Korean patients with EB, and major clinical events and outcomes in Korean RDEB patients. @*Methods@#A total of 179 patients diagnosed with EB at a single tertiary hospital between January 2005 and January 2020 were retrospectively analyzed. @*Results@#Among the 179 patients, 86 (48.0%) had EB simplex, 45 (25.1%) had dominant dystrophic EB, 38 (21.2%) had RDEB, and 10 (5.6%) had juncttional EB. Symptoms of the disease were present at age 1 year in 38 patients with RDEB (100%), 10 with junctional EB (100%), 41 with dominant dystrophic EB (91.1%), and 63 with EB simplex (73.3%). Among the 38 patients with RDEB, 20 (52.6%) had anemia, 21 (55.3%) had pseudosyndactyly, 9 (23.7%) had cardiac disorder (23.7%) (e.g., dilated cardiomyopathy), 9 (23.7%) had ophthalmic disorders, 11 (28.9%) had methicillin-resistant Staphylococcus aureus skin infection, 7 (18.4%) had esophageal stricture, and 4 (10.5%) developed squamous cell carcinoma at a mean age of 46.7 years. Seventeen subjects (44.7%) underwent hand/foot surgery at a mean age of 6.6 years. Six subjects (15.8%) underwent esophageal dilation at a mean age of 23 years. Five patients (13.2%) died. @*Conclusion@#RDEB affects multiple organ systems and requires a multidisciplinary therapeutic approach. Understanding the incidence and outcomes of milestone clinical events is crucial for optimal management of RDEB patients.

4.
Article in English | WPRIM | ID: wpr-916891

ABSTRACT

Purpose@#To assess the prevalence of incidentally detected lumbar spondylolysis in children. @*Materials and Methods@#We retrospectively reviewed the data of 809 patients under the age of 11 years (mean age, 7.0 ± 2.7 years; boys:girls = 479:330) who underwent abdominal and pelvic CT between March 2014 and December 2018. We recorded the presence, level, and laterality (unilateral or bilateral) of spondylolysis. Patients were divided into two groups based on the presence of spondylolysis: the spondylolysis (SP) and non-SP groups. @*Results@#In total, 21 cases of spondylolysis were detected in 20 patients (20/809, 2.5%). The mean age of the SP group was higher than that of the non-SP group (7.8 ± 1.8 vs. 6.9 ± 2.7 years, p > 0.05). The prevalence of spondylolysis in boys was higher than that in girls (15/479 [3.1%] vs. 5/330 [1.5%], p > 0.05). The prevalence of spondylolysis in school-age children (6–10 year olds) was higher than that in preschool-age children (0–5 year olds) (17/538 [3.2%] vs. 3/271 [1.1%], p > 0.05). L5 was the most common level of spondylolysis (76.2%); one 8-year-old boy had twolevel spondylolysis. One case of isthmic spondylolisthesis was detected in a 10-year-old boy (1/809, 0.1%). There were 11 unilateral spondylolysis cases (11/21, 52.4%). @*Conclusion@#In our study, the prevalence of spondylolysis in children under the age of 11 was 2.5%. The prevalence was higher in boys than in girls and in school-age than in preschool-age children, despite the lack of any statistically significant differences.

5.
Article in English | WPRIM | ID: wpr-916888

ABSTRACT

Li-Fraumeni syndrome (LFS) is an inherited autosomal-dominant tumor-predisposition disorder caused by germline mutations in the TP53 tumor suppressor gene. Since patients with LFS are likely to develop therapy-related cancers, radiation therapy should be avoided if breast cancer is found in these individuals. Herein, we present a case of secondary breast cancer in an LFS patient after radiation and chemotherapy for the first diagnosed breast sarcoma.

6.
Article in English | WPRIM | ID: wpr-916880

ABSTRACT

The clinical concept of coronary artery disease (CAD) has seen a paradigm shift over the last decade. CAD is mostly a progressive disease, and patients with CAD can develop acute coronary syndromes at any point in disease progression. In this clinical context, a new term, “chronic coronary syndrome,” was published in the 2019 European Society of Cardiology guidelines, reflecting the importance of early diagnosis and active management. Recent advances have been made in the evaluation of CAD using coronary CT angiography (CCTA). The clinical usefulness of CCTA in patients with stable angina or chronic coronary syndrome begins with the detection of early asymptomatic CAD. The characterization of atherosclerotic plaque and its role in determining treatment strategies for CAD have been demonstrated for all stages of the disease.This review describes the pathophysiology of stable angina to aid in the understanding of the clinical applications of CCTA.

7.
Article in Korean | WPRIM | ID: wpr-916453

ABSTRACT

Purpose@#The corona virus disease-19 (COVID-19) pandemic has resulted in mandatory masking of patients and physicians during outpatient visits. This study evaluated the changes in intraocular pressure (IOP) according to mask use. @*Methods@#This prospective study enrolled 30 healthy volunteers (60 eyes). IOP was measured via Goldmann applanation tonometry (GAT) for the subjects wearing one of four commonly used masks: dental, bi-folding Korean Filter (KF)94, tri-folding KF94, and dust masks. Subjects with IOP measurement errors of more than 5 mmHg were rechecked with another GAT type. @*Results@#The mean IOP measured via GAT before mask wearing was 13.7 ± 1.7 mmHg. It was 13.5 ± 2.1, 14.0 ± 2.3, 14.3 ± 2.5, and 13.8 ± 1.6 mmHg with the dental, bi-folding KF94, tri-folding KF94, and dust masks, respectively. There were no significant differences in IOP according to mask type (p = 0.635). IOP errors above 5 mmHg were detected in three subjects who had contact between the GAT feeler arm and tri-folding KF94 mask during IOP measurement. @*Conclusions@#The IOP as measured via GAT is artificially elevated by mechanical interference from the tri-fold KF94 mask. To minimize such mask-induced artifacts in GAT measurements, compress the patient’s mask or change the mask type to prevent any contact during measurement.

8.
Article in Korean | WPRIM | ID: wpr-916445

ABSTRACT

Purpose@#To report four cases of toxic anterior segment syndrome after cataract surgery under intracameral 0.5% lidocaine anesthesia.Case summary: Four patients had a decrease in visual acuity within 3 days of undergoing cataract surgery. There was evidence of anterior chamber inflammation with corneal edema and opacity. Toxic anterior segment syndrome was diagnosed on the basis of negative microbial cultures and clinical features. Three patients were treated with systemic and topical steroids, and one was treated with topical steroids only. Three months postoperatively, three patients had good visual acuity without inflammation or corneal edema. However, one patient, who did not receive systemic steroids, exhibited persistent corneal edema and required endothelial keratoplasty. @*Conclusions@#Toxic anterior segment syndrome is a surgical complication that requires immediate treatment. Systemic steroids can be helpful with topical steroids. Clinicians should ensure that measures are taken to avoid contamination of surgical procedure with toxic substances to prevent toxic anterior segment syndrome.

9.
Article in Korean | WPRIM | ID: wpr-916436

ABSTRACT

Purpose@#To investigate the changes in intraocular cytokines after ranibizumab treatment in patients with polypoidal choroidal vasculopathy (PCV). @*Methods@#This multicenter, prospective study enrolled patients with PCV treated with three monthly ranibizumab followed by a pro re nata regimen for 24 weeks. Best corrected visual acuity, slit lamp examination, fundus photography, and optical coherence tomography were performed every 4 weeks. Aqueous humor was collected to measure intraocular cytokines at baseline, week 8, and the time of recurrence or week 20. The association of changes in intraocular cytokines with visual acuity, central macular thickness, central choroidal thickness, area of abnormal vessels, and polyp closure was assessed. @*Results@#This study included 25 eyes. The mean patient age was 70.3 ± 6.1 years. The vascular endothelial growth factor (VEGF) concentration decreased at week 8, but only interferon (IFN)-γ, tissue inhibitors of matrix metalloproteinases (TIMP)-2, and monocyte chemoattractant protein (MCP)-2 decreased at the time of recurrence. The recurrence interval was positively associated with the baseline epithelial-neutrophil activating peptide (ENA)-78, interleukin (IL)-17, leptin, and transforming growth factor-β1, and baseline central macular thickness was positively correlated with the baseline fibroblast growth factor-4 and IL-10. Thick central choroidal thickness was associated with a low basic fibroblast growth factor and high IFN-γ at baseline. The MCP-3 and Tie-2 levels decreased in two eyes with polyp closure. @*Conclusions@#Ranibizumab significantly reduced intraocular VEGF concentrations and consequently improved PCV. However, the cytokines IFN-γ, TIMP-2, and MCP-2, rather than VEGF, were associated with PCV recurrence. Further studies of intraocular cytokines involved in neovascularization in PCV are needed.

10.
Yonsei Medical Journal ; : 133-140, 2022.
Article in English | WPRIM | ID: wpr-919604

ABSTRACT

Purpose@#Bone mineral density (BMD) determined by dual-energy X-ray absorptiometry is considered a gold standard for diagnosing osteoporosis. Some people show discordance in BMD values measured at the femur and that at the lumbar spine (LS). The aim of the present study was to investigate whether differences in BMD T-scores between the LS and femur neck (FN) are associated with renal dysfunction in the general population of Korea. @*Materials and Methods@#We analyzed national data for 17306 adults from the Korean National Health and Nutrition Examination Survey conducted between 2008 and 2011. BMD T-score differences between LS and FN (termed BMD offset) were calculated by subtracting FN T-scores from LS T-scores. Diminished renal function was defined as estimated glomerular filtration rates (eGFR) less than 60 mL/min/1.73 m2 . @*Results@#Among those aged ≥50 years, BMD offset was negatively associated with eGFR levels. Additionally, eGFR levels decreased linearly across increasing BMD offset quartiles. Men and women with an offset of >1.5 showed a 4.79-times and 2.51-times higher risk of renal dysfunction, respectively, compared to individuals with an offset of ≤0, after adjusting for age, body mass index, educational level, current smoking, and physical activity. In contrast, there was little evidence of an association between renal dysfunction and BMD offset in subjects aged <50 years. @*Conclusion@#Discordance between LS and FN BMDs was significantly associated with renal dysfunction in subjects aged ≥50 years. When assessing bone health in older chronic kidney disease patients, physicians should consider the possibility of BMD discordance between LS and FN.

11.
Article in English | WPRIM | ID: wpr-919475

ABSTRACT

Background@#With the introduction of Xpert MTB/RIF assay (Xpert), its incorporation into tuberculosis (TB) diagnostic algorithm has become an important issue. The aim of this study was to evaluate the performance of the Xpert assay in comparison with a commercial polymerase chain reaction (PCR) assay. @*Methods@#Medical records of patients having results of both Xpert and AdvanSure TB/NTM real-time PCR (AdvanSure) assays using the same bronchial washing specimens were retrospectively reviewed. @*Results@#Of the 1,297 patients included in this study, 205 (15.8%) were diagnosed with pulmonary TB. Using mycobacterial culture as the reference method, sensitivity of the Xpert assay using smear-positive specimens was 97.5%, which was comparable to that of the AdvanSure assay (96.3%, p=0.193). However, the sensitivity of the Xpert assay using smear-negative specimens was 70.6%, which was significantly higher than that of the AdvanSure assay (52.9%, p=0.018). Usng phenotypic drug susceptibility testing as the reference method, sensitivity and specificity for detecting rifampicin resistance were 100% and 99.1%, respectively. Moreover, a median turnaround time of the Xpert assay was 1 day, which was significantly shorter than 3 days of the AdvanSure assay (p<0.001). @*Conclusion@#In comparison with the AdvanSure assay, the Xpert assay had a higher sensitivity using smear-negative specimens, a shorter turnaround time, and could reliably predict rifampin resistance. Therefore, the Xpert assay might be preferentially recommended over TB-PCR in Korean TB diagnostic algorithm.

12.
Article in English | WPRIM | ID: wpr-919191

ABSTRACT

Background/Aims@#Treatment decisions for locally advanced head and neck squamous cell carcinoma (LA-HNSCC) are complicated, and multi-modal treatments are usually indicated. However, it is challenging for older patients to complete treatments. Thus, we investigated disease characteristics, real-world treatment, and outcomes in older LA-HNSCC patients. @*Methods@#Older patients (aged ≥ 70 years) were selected from a large nationwide cohort that included 445 patients with stage III–IVB LA-HNSCC from January 2005 to December 2015. Their data were retrospectively analyzed and compared with those of younger patients. @*Results@#Older patients accounted for 18.7% (83/445) of all patients with median age was 73 years (range, 70 to 89). Proportions of primary tumors in the hypopharynx and larynx were higher in older patients and older patients had a more advanced T stage and worse performance status. Regarding treatment strategies of older patients, 44.5% of patients received concurrent chemoradiotherapy (CCRT), 41.0% underwent surgery, and 14.5% did not complete the planned treatment. Induction chemotherapy (IC) was administered to 27.7% (23/83) of older patients; the preferred regimen for IC was fluorouracil and cisplatin (47.9%). For CCRT, weekly cisplatin was prescribed 3.3 times more often than 3-weekly cisplatin (62.2% vs. 18.9%). Older patients had a 60% higher risk of death than younger patients (hazard ratio, 1.6; p = 0.035). Oral cavity cancer patients had the worst survival probability. @*Conclusions@#Older LA-HNSCC patients had aggressive tumor characteristics and received less intensive treatment, resulting in poor survival. Further research focusing on the older population is necessary.

13.
Article in English | WPRIM | ID: wpr-918631

ABSTRACT

BACKGROUND/OBJECTIVES@#This study aimed to examine the reproducibility of food frequency questionnaires (FFQs) designed for young female nurses in the Korea Nurses' Health Study. @*SUBJECTS/METHODS@#The reproducibility of web-based, self-administered FFQs was evaluated among 243 Korean female nurses. The first FFQ (FFQ1) was administered from March 2014 to February 2019 and the second FFQ (FFQ2) from November 2019, with a mean interval of 2.8 years between the FFQs (range, 9 months–5.6 years). Pearson and Spearman correlation coefficients (r values) and quartile agreements between FFQ1 and FFQ2 were calculated for intakes of energy, nutrients, and foods. @*RESULTS@#Pearson correlation coefficients ranged from 0.41 to 0.55 (median r = 0.51) for energy and raw nutrients and from 0.16 to 0.46 (median r = 0.36) for energy-adjusted nutrients. Spearman correlation coefficients ranged from 0.25 to 0.72 (median r = 0.41) for food items. The percentages of women who were classified into the same or adjacent quartile were 77% to 84% (median = 82%) for raw nutrients and 69% to 86% (median = 78%) for foods. @*CONCLUSIONS@#The results indicated that the web-based FFQ used in the Korea Nurses' Health Study has acceptable reproducibility.

14.
Article in Korean | WPRIM | ID: wpr-918129

ABSTRACT

Pancreatic acinar cell carcinoma (ACC) is a rare neoplasm accounting less than 1% of malignant pancreatic tumors. A 47-year-old male patient visited the emergency room with epigastric pain. Computed tomography or magnetic resonance imaging revealed a 4.7-cm heterogeneously enhanced solid and cystic mass with internal necrosis located in the head of the pancreas. Radiological diagnosis was borderline malignancy such as neuroendocrine tumor or solid pseudopapillary neoplasm. Two months later, the necrotic mass in the pancreas head had grown up to 11 cm, compressing the duodenum, superior mesenteric vein, and proximal transverse colon. Pylorus preserving pancreatoduodenectomy with segmental resection of transverse colon was performed. Histopathological examination revealed that the tumor was pancreatic ACC. The patient recovered without any complication and was doing well without recurrence for 12 months after surgery.

15.
Journal of Gastric Cancer ; : 426-438, 2021.
Article in English | WPRIM | ID: wpr-914975

ABSTRACT

Purpose@#While the incidence of Barrett’s neoplasia has been increasing in Western countries, the disease remains rare in Asian countries. Therefore, very few studies have investigated the endoscopic treatment for Barrett’s neoplasia in Korea. Endoscopic submucosal dissection (ESD) enables en bloc and complete resection of gastrointestinal neoplastic lesions. This study aimed to evaluate the therapeutic outcomes of ESD for Barrett’s neoplasia in a single center in Korea and to examine the predictive factors for incomplete resection. @*Materials and Methods@#We conducted a retrospective observational study of 18 patients who underwent ESD for superficial Barrett’s neoplasia (dysplasia and early cancer) between January 2010 and December 2019 at Pusan National University Hospital. The therapeutic outcomes of ESD and procedure-related complications were analyzed. @*Results@#En bloc resection, complete resection, and curative resection were performed in 94%, 72%, and 61% of patients, respectively. Histopathology (submucosal or deeper invasion of the tumor) was a significant predictive factor for incomplete resection (P=0.047). Procedure-related bleeding and stenosis were not observed, whereas perforation occurred in one case. During the median follow-up period of 12 months (range, 6–74 months), local recurrence occurred in 2 patients with incomplete resection, one patient underwent repeat ESD, and the other patient received concurrent chemoradiotherapy. The 3-year overall and disease-specific survival rates were 73% and 93%, respectively. @*Conclusions@#ESD seems to be an effective and safe treatment for superficial Barrett’s neoplasia in Korea. Nevertheless, the suitability of ESD for Barrett’s cancer cases should be determined considering the high risk of deep submucosal invasion.

16.
Article in English | WPRIM | ID: wpr-914845

ABSTRACT

Branched-chain amino acids (BCAAs), isoleucine, leucine and valine, are essential amino acids with vital roles in protein synthesis and energy production. We reviewed the fundamentals of BCAA metabolism in advanced cancer patients. BCAAs and various catabolic products act as signalling molecules, which activate mechanisms ranging from protein synthesis to insulin secretion. Recently, BCAA metabolism has been suggested to contribute to cancer progression. Of particular interest is the modulation of the mTOR activity by BCAAs. There are likely multiple pathways involved in BCAA metabolism implicated in carcinogenesis. Understanding the mechanism(s) underlying altered BCAAs metabolism will significantly advance the current understanding of nutrient involvement in carcinogenesis and direct future studies to unravel the significance of BCCA metabolites in tumor development and progression.

17.
Health Communication ; (2): 25-33, 2021.
Article in English | WPRIM | ID: wpr-914419

ABSTRACT

Background@#: Emergency physicians are increasingly participating in brain-death organ tissue donation (OTD).It is difficult communication to inform family members about suspected brain-death and potential donor.This study sought to explore the experiences and communication of emergency physicians in brain-death OTD. @*Methods@#: This is a qualitative study that interviewed 10 experienced emergency physicians with brain-death OTD and analyzed the data by thematic analysis method. @*Results@#: The study revealed 20 subthemes and 5 themes; 1) Families who are invited to donate organs make decisions after long periods of consideration by the entire family, 2) It is uncomfortable to recommend organ donation, 3) Explaining and obtaining consent is ‘the hardest job’ for the attending physician, 4) The way the attending physician does ‘the hardest job’ is by explaining, 5) Passively solicit donation. @*Conclusion@#: The experienced emergency physicians with brain-death OTD were using methods of communication to understand and sympathized with the family members and had abundant experiences. The findings of this study will help inexperienced emergency physicians with brain-death OTD.

18.
Health Communication ; (2): 167-176, 2021.
Article in English | WPRIM | ID: wpr-914406

ABSTRACT

Results@#Among grit’s sub-areas, consistent effort was significantly associated with gender (male students scored higher than female students (t=2.20, p=.029), scores were higher when parental relationships were intimate (F=5.88, p=.003), and the closer the relationship with the homeroom teacher, the higher the score (F=3.51, p=.032). The regression model in this study was statistically significant (F=26.730, p<.001), and the variables that influenced steady effort (Grit) were self-resilience (β=.331, p<.001), and self-emotion regulation (β=.290, p<.001), sex (β=-.142, p=.024), the explanatory power of the variable’s continuous effort was 29.4%. @*Conclusion@#The middle school age is the time to discover life goals and dreams. Grit is persistent efforts to achieve our goals and in order to raise the level of Grit, we need to develop and provide ongoing curriculum and tailored school programs that will increase self-resilience and self-emotion control skills.

19.
Gut and Liver ; : 912-921, 2021.
Article in English | WPRIM | ID: wpr-914353

ABSTRACT

Background/Aims@#Several prediction models for evaluating the prognosis of nonmetastatic resected pancreatic ductal adenocarcinoma (PDAC) have been developed, and their performances were reported to be superior to that of the 8th edition of the American Joint Committee on Cancer (AJCC) staging system. We developed a prediction model to evaluate the prognosis of resected PDAC and externally validated it with data from a nationwide Korean database. @*Methods@#Data from the Surveillance, Epidemiology and End Results (SEER) database were utilized for model development, and data from the Korea Tumor Registry System-Biliary Pancreas (KOTUS-BP) database were used for external validation. Potential candidate variables for model development were age, sex, histologic differentiation, tumor location, adjuvant chemotherapy, and the AJCC 8th staging system T and N stages. For external validation, the concordance index (C-index) and time-dependent area under the receiver operating characteristic curve (AUC) were evaluated. @*Results@#Between 2004 and 2016, data from 9,624 patients were utilized for model development, and data from 3,282 patients were used for external validation. In the multivariate Cox proportional hazard model, age, sex, tumor location, T and N stages, histologic differentiation, and adjuvant chemotherapy were independent prognostic factors for resected PDAC. After an exhaustive search and 10-fold cross validation, the best model was finally developed, which included all prognostic variables. The C-index, 1-year, 2-year, 3-year, and 5-year time-dependent AUCs were 0.628, 0.650, 0.665, 0.675, and 0.686, respectively. @*Conclusions@#The survival prediction model for resected PDAC could provide quantitative survival probabilities with reliable performance. External validation studies with other nationwide databases are needed to evaluate the performance of this model.

20.
Endocrinology and Metabolism ; : 1287-1297, 2021.
Article in English | WPRIM | ID: wpr-914245

ABSTRACT

Background@#An activating mutation (c.617A>C/p.Lys206Arg, L206R) in protein kinase cAMP-activated catalytic subunit alpha (PRKACA) has been reported in 35% to 65% of cases of cortisol-producing adenomas (CPAs). We aimed to compare the clinical characteristics and transcriptome analysis between PRKACA L206R mutants and wild-type CPAs in Korea. @*Methods@#We included 57 subjects with CPAs who underwent adrenalectomy at Seoul National University Hospital. Sanger sequencing for PRKACA was conducted in 57 CPA tumor tissues. RNA sequencing was performed in 13 fresh-frozen tumor tissues. @*Results@#The prevalence of the PRKACA L206R mutation was 51% (29/57). The mean age of the study subjects was 42±12 years, and 87.7% (50/57) of the patients were female. Subjects with PRKACA L206R mutant CPAs showed smaller adenoma size (3.3±0.7 cm vs. 3.8±1.2 cm, P=0.059) and lower dehydroepiandrosterone sulfate levels (218±180 ng/mL vs. 1,511±3,307 ng/mL, P=0.001) than those with PRKACA wild-type CPAs. Transcriptome profiling identified 244 differentially expressed genes (DEGs) between PRKACA L206R mutant (n=8) and wild-type CPAs (n=5), including five upregulated and 239 downregulated genes in PRKACA L206R mutant CPAs (|fold change| ≥2, P<0.05). Among the upstream regulators of DEGs, CTNNB1 was the most significant transcription regulator. In several pathway analyses, the Wnt signaling pathway was downregulated and the steroid biosynthesis pathway was upregulated in PRKACA mutants. Protein-protein interaction analysis also showed that PRKACA downregulates Wnt signaling and upregulates steroid biosynthesis. @*Conclusion@#The PRKACA L206R mutation in CPAs causes high hormonal activity with a limited proliferative capacity, as supported by transcriptome profiling.

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