BACKGROUND: Clear cell renal cell carcinoma (CCRCC) is presumed to be associated with adipogenic differentiation. Histone modification is known to be important for adipogenesis, and the function of histone demethylase plant homeodomain finger 2 (PHF2) has been noted. In addition, PHF2 may act as a tumor suppressor via epigenetic regulation of p53 and is reported to be reduced in colon cancer and stomach cancer tissues. In this study, we examined PHF2 expression in CCRCC specimens by immunohistochemistry. METHODS: We studied 254 CCRCCs and 56 non-neoplastic renal tissues from patients who underwent radical or partial nephrectomy between 2000 and 2003 at the Seoul National University Hospital. Tissue microarray blocks were prepared, and immunohistochemical staining for PHF2 was performed. RESULTS: Among 254 CCRCC cases, 150 cases (59.1%) showed high expression and 104 cases (40.1%) showed low expression. High expression of PHF2 was significantly correlated with a low Fuhrman nuclear grade (p < .001), smaller tumor size (p < .001), low overall stage (p = .003), longer cancer-specific survival (p = .002), and progression-free survival (p < .001) of the patients. However, it was not an independent prognostic factor in multivariate analysis adjusted for Fuhrman nuclear grade and overall stage. CONCLUSIONS: Our study showed that low expression of PHF2 is associated with aggressiveness and poor prognosis of CCRCC.
Adipogenesis ; Carcinoma, Renal Cell* ; Colonic Neoplasms ; Disease-Free Survival ; Epigenomics ; Fingers ; Histones ; Humans ; Immunohistochemistry ; Multivariate Analysis ; Nephrectomy ; Plants ; Prognosis ; Seoul ; Stomach Neoplasms

BACKGROUND: Hibernoma is a rare benign tumor of adults that is composed of multivacuolated adipocytes resembling brown fat cells. Hibernoma typically occurs in soft tissue, and intraosseous examples are very rare. Intraosseous hibernomas can radiologically mimic metastatic carcinoma and other tumorous conditions. METHODS: To collect the intraosseous hibernomas, we searched the pathologic database and reviewed the hematoxylin and eosin (H&E)–stained slides of bone biopsy samples performed to differentiate radiologically abnormal bone lesions from 2006 to 2016. A total of six intraosseous hibernoma cases were collected, and clinical and radiological information was verified from electronic medical records. H&E slide review and immunohistochemical staining for CD68, pan-cytokeratin, and S-100 protein were performed. RESULTS: Magnetic resonance imaging of intraosseous hibernomas showed low signal intensity with slightly hyperintense foci on T1 and intermediate to high signal intensity on T2 weighted images. Intraosseous hibernomas appeared as heterogeneous sclerotic lesions with trabecular thickening on computed tomography scans and revealed mild hypermetabolism on positron emission tomography scans. Histopathologically, the bone marrow space was replaced by sheets of multivacuolated, foamy adipocytes resembling brown fat cells, without destruction of bone trabeculae. In immunohistochemical analysis, the tumor cells were negative for CD68 and pan-cytokeratin and positive for S-100 protein. CONCLUSIONS: Intraosseous hibernoma is very rare. This tumor can be overlooked due to its rarity and resemblance to bone marrow fat. Pathologists need to be aware of this entity to avoid misdiagnosis of this rare lesion.
Adipocytes ; Adipocytes, Brown ; Adult ; Biopsy ; Bone Marrow ; Bone Neoplasms ; Diagnostic Errors ; Electronic Health Records ; Eosine Yellowish-(YS) ; Hematoxylin ; Humans ; Immunohistochemistry ; Lipoma* ; Magnetic Resonance Imaging ; Pathology ; Positron-Emission Tomography ; S100 Proteins

BACKGROUND: Human epidermal growth factor receptor 2 (HER2) is one of the known oncogenes in urothelial carcinoma. However, the association between HER2 and the prognosis of upper urinary tract urothelial carcinoma (UUTUC) has not yet been fully clarified. The aim of this study was to evaluate HER2 expression using the United States Food and Drug Administration (FDA) criteria and American Society of Clinical Oncology/College of American Pathologists (ASCO/CAP) criteria and compare their prognostic significance in UUTUC. METHODS: HER2 expression was evaluated in 144 cases of UUTUC by immunohistochemistry (IHC) using tissue microarrays. We separately analyzed HER2 expression using the FDA and ASCO/CAP criteria. The IHC results were categorized into low (0, 1+) and high (2+, 3+) groups. RESULTS: Using the FDA criteria, 94 cases were negative, 38 cases were 1+, nine cases were 2+, and three cases were 3+. Using the ASCO/CAP criteria, 94 cases were negative, 34 cases were 1+, 13 cases were 2+, and three cases were 3+. Four cases showing 2+ according to the ASCO/CAP criteria were reclassified as 1+ by the FDA criteria. High HER2 expression by both the FDA criteria and ASCO/CAP criteria was significantly associated with International Society of Urological Pathology high grade (p = .001 and p < .001). The high HER2 expression group classified with the FDA criteria showed significantly shorter cancer-specific survival (p = .004), but the HER2 high and low expression groups classified with the ASCO/CAP criteria did not show significant differences (p = .161) in cancer-specific survival. CONCLUSIONS: HER2 high expression groups were significantly associated with shorter cancer-specific survival, and our study revealed that the FDA criteria are more suitable for determining HER2 expression in UUTUC.
Humans ; Immunohistochemistry* ; Oncogenes ; Pathology ; Prognosis ; Receptor, Epidermal Growth Factor ; United States Food and Drug Administration ; Urinary Tract*

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.

Purpose: This study aimed to evaluate the molecular features of clear cell adenocarcinoma (CCA) of the urinary tract and investigate its pathogenic pathways and possible actionable targets. Materials and Methods: We retrospectively collected the data of patients with CCA between January 1999 and December 2016; the data were independently reviewed by two pathologists. We selected five cases of urinary CCA, based on the clinicopathological features. We analyzed these five cases by whole exome sequencing (WES) and subsequent bioinformatics analyses to determine the mutational spectrum and possible pathogenic pathways. Results: All patients were female with a median age of 62 years. All tumors were located in the urethra and showed aggressive behavior with disease progression. WES revealed several genetic alterations, including driver gene mutations (AMER1, ARID1A, CHD4, KMT2D, KRAS, PBRM1, and PIK3R1) and mutations in other important genes with tumor-suppressive and oncogenic roles (CSMD3, KEAP1, SMARCA4, and CACNA1D). We suggest putative pathogenic pathways (chromatin remodeling pathway, mitogen-activated protein kinase signaling pathway, phosphoinositide 3-kinase/AKT/mammalian target of rapamycin pathway, and Wnt/β-catenin pathway) as candidates for targeted therapies. Conclusion Our findings shed light on the molecular background of this extremely rare tumor with poor prognosis and can help improve treatment options.

There has been continuous effort to prevent transfusion-transmitted infection (TTI). Strategies to prevent TTI can be divided into two components: first, determining donor eligibility, and second, managing bacterial contamination of blood products. To determine donor eligibility, medical history taking and screening tests for infectious diseases should be performed. To prevent bacterial contamination, blood collection process should be aseptic, tests for bacterial detection should be performed, and an application of pathogen reduction technology should also be considered. In this review, screening test items and methods, including nucleic acid amplification tests for determining donor eligibility, and precautions for blood collection, bacterial detection methods, and pathogen reduction technology for the prevention of bacterial contamination of blood products were discussed in detail.
Communicable Diseases ; Donor Selection ; Humans ; Mass Screening ; Medical History Taking ; Nucleic Acid Amplification Techniques ; Tissue Donors

No abstract available.
Alleles ; Korea

PURPOSE: Combination therapy with aprepitant, serotonin receptor antagonist, and steroids improves the complete response rate of both acute and delayed chemotherapy-induced nausea and vomiting (CINV). However, it is not known whether ramosetron is suitable for administration in combination with aprepitant. Therefore, we conducted a multicenter, open-label, prospective, phase II study in order to assess the efficacy and tolerability of combination therapy with ramosetron, aprepitant, and dexamethasone (RAD) for prevention of cisplatin-based CINV in chemotherapy-naive patients with solid cancers. MATERIALS AND METHODS: Forty-one patients with various solid cancers (31 male and 10 female; median age, 59 years) who received treatment with highly emetogenic chemotherapy (median cisplatin dose, 70 mg/m2; range 50 to 75 mg/m2) were enrolled in this study. Oral aprepitant (125 mg on day 1; 80 mg on days 2 and 3), intravenous ramosetron (0.6 mg on day 1), and oral dexamethasone (12 mg on day 1; 8 mg on days 2-4) were administered for prevention of CINV. RESULTS: The complete response (no emesisand retching and no rescue medication) rate was 94.9% in the acute period (24 hours post-chemotherapy), 92.3% in the delayed period (24-120 hours post-chemotherapy), and 92.3% in the overall period (0-120 hours). The absolute complete response (complete response plus no nausea) rate was 74.4% in the acute period, 51.3% in the delayed period, and 46.2% in the overall period. There were no grade 3 or 4 toxicities related to these antiemetic combinations. CONCLUSION: RAD regimen is a safe and effective antiemetic treatment for prevention of CINV in patients receiving highly emetogenic chemotherapy.
Benzimidazoles ; Cisplatin ; Dexamethasone ; Humans ; Male ; Morpholines ; Nausea ; Prospective Studies ; Serotonin ; Steroids ; Vomiting

Circulating tumor DNA (ctDNA) has emerged as a promising tool for various clinical applications, including early diagnosis, therapeutic target identification, treatment response monitoring, prognosis evaluation, and minimal residual disease detection. Consequently, ctDNA assays have been incorporated into clinical practice. In this review, we offer an indepth exploration of the clinical implementation of ctDNA assays. Notably, we examined existing evidence related to pre-analytical procedures, analytical components in current technologies, and result interpretation and reporting processes. The primary objective of this guidelines is to provide recommendations for the clinical utilization of ctDNA assays.

Background: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-infected pneumonia emerged in Wuhan, China in December 2019. In this retrospective multicenter study, we investigated the clinical course and outcomes of novel coronavirus disease 2019 (COVID-19) from early cases in Republic of Korea. Methods: All of the cases confirmed by real time polymerase chain reaction were enrolled from the 1st to the 28th patient nationwide. Clinical data were collected and analyzed for changes in clinical severity including laboratory, radiological, and virologic dynamics during the progression of illness. Results: The median age was 40 years (range, 20–73 years) and 15 (53.6%) patients were male. The most common symptoms were cough (28.6%) and sore throat (28.6%), followed by fever (25.0%). Diarrhea was not common (10.7%). Two patients had no symptoms. Initial chest X-ray (CXR) showed infiltration in 46.4% of the patients, but computed tomography scan confirmed pneumonia in 88.9% (16/18) of the patients. Six patients (21.4%) required supplemental oxygen therapy, but no one needed mechanical ventilation. Lymphopenia was more common in severe cases. Higher level of C-reactive protein and worsening of chest radiographic score was observed during the 5–7 day period after symptom onset. Viral shedding was high from day 1 of illness, especially from the upper respiratory tract (URT). Conclusion The prodromal symptoms of COVID-19 were mild and most patients did not have limitations of daily activity. Viral shedding from URT was high from the prodromal phase. Radiological pneumonia was common from the early days of illness, but it was frequently not evident in simple CXR. These findings could be plausible explanations for the easy and rapid spread of SARS-CoV-2 in the community.