Background: Chromosomal alterations serve as diagnostic and prognostic markers in acute leukemia. Given the evolving landscape of chromosomal abnormalities in acute leukemia, we previously studied these over two periods. In this study, we investigated the frequency of these abnormalities and clinical trends in acute leukemia in Korea across three time periods. Methods: We retrospectively analyzed data from 1,787 patients with acute leukemia (319 children and 1,468 adults) diagnosed between 2006 and 2020. Conventional cytogenetics, FISH, and multiplex quantitative PCR were used for analysis. The patient groups were divided according to the following three study periods: 2006–2009 (I), 2010–2015 (II), and 2016–2020 (III). Results: Chromosomal aberrations were detected in 92% of patients. The PML::RARA translocation was the most frequent. Over the 15-yr period, chromosomal aberrations showed minimal changes, with specific fusion transcripts being common among patients.ALL was more prevalent in children than in adults and correlated significantly with the ETV6::RUNX1 and RUNX1::RUNX1T1 aberrations. The incidence of ALL increased during the three periods, with PML::RARA remaining common. Conclusions The frequency of chromosomal abnormalities in acute leukemia has changed subtly over time. Notably, the age of onset of adult AML has continuously increased. Our results may help in establishing diagnoses and clinical treatment strategies and developing various molecular diagnostic platforms.

Objectives: To compare the white matter microstructure alterations in schizophrenia with auditory verbal hallucinations (AVHs) with normal persons using diffusion tensor imaging. Methods: Thirty-five schizophrenia patients with AVHs and 33 normal control persons were recruited from the National Forensic Hospital in Korea. The fractional anisotropy (FA) values of arcuate fasciculus (AF), Broca’s area, and Wernicke’s area were estimated from the diffusion tensor imaging data of each subject using the Johns Hopkins University-white matter tractography atlas to determine the difference in white matter integrity between schizophrenia patients with AVH and normal persons. Results: Compared to the normal control group, the FA values of AF (t=4.349, p<0.001) were higher in the normal control group. On the other hand, there were no significant differences in Broca’s area and Wernicke’s area. Conclusion Microstructural changes of AF are certainly involved in schizophrenia patients with AVHs.

Purpose: Germline mutations in DNA damage repair (DDR) genes such as BRCA2 have been associated with prostate cancer (PC) risk but has not been thoroughly evaluated for metastatic prostate cancer (mPC) in Asian men. This study attempts to evaluate frequency of DDR mutations in the largest cohort of Koreans. Materials and Methods: We recruited 340 patients with mPC unselected for family history of cancer and compared to 495 controls. Whole genome sequencing was applied to assess germline pathogenic/likely pathogenic variants (PV/LPVs) in 26 DDR genes and HOXB13, including 7 genes (ATM, BRCA1/2, CHEK2, BRIP1, PALB2, and NBN) associated with hereditary PC. Comparisons to published Caucasian and Japanese cohorts were performed. Results: Total of 28 PV/LPVs were identified in 30 (8.8%) patients; mutations were found in 13 genes, including BRCA2 (15 men [4.41%]), ATM (2 men [0.59%]), NBN (2 men [0.59%], and BRIP1 (2 men [0.59%]). Only one patient had HOXB13 mutation (0.29%). A lower rate of overall germline variant frequency was observed in Korean mPC compared to Caucasians (8.8% vs. 11.8%), but individual variants notably differed from Caucasian and geographically similar Japanese cohorts. PV/LPVs in DDR genes tended to increase gradually with higher Gleason scores (GS 7, 7.1%; GS 8, 7.5%; GS 9–10, 9.9%). Conclusions BRCA2 was the most frequently mutated gene common to different cohorts supporting its importance, but differences in variant distribution in Korean mPC underscore the need for ethnic-specific genetic models. Future ethnic-specific analyses are warranted to verify our findings.

The first edition of ‘A Standardized Pathology Report for Gastric Cancer’ was initiated by the Gastrointestinal Pathology Study Group of the Korean Society of Pathologists and published 17 years ago. Since then, significant advances have been made in the pathologic diagnosis, molecular genetics, and management of gastric cancer (GC). To reflect those changes, a committee for publishing a second edition of the report was formed within the Gastrointestinal Pathology Study Group of the Korean Society of Pathologists. This second edition consists of two parts: standard data elements and conditional data elements.The standard data elements contain the basic pathologic findings and items necessary to predict the prognosis of GC patients, and they are adequate for routine surgical pathology service. Other diagnostic and prognostic factors relevant to adjuvant therapy, including molecular biomarkers, are classified as conditional data elements to allow each pathologist to selectively choose items appropriate to the environment in their institution. We trust that the standardized pathology report will be helpful for GC diagnosis and facilitate large-scale multidisciplinary collaborative studies.

The first edition of ‘A Standardized Pathology Report for Gastric Cancer’ was initiated by the Gastrointestinal Pathology Study Group of the Korean Society of Pathologists and published 17 years ago. Since then, significant advances have been made in the pathologic diagnosis, molecular genetics, and management of gastric cancer (GC). To reflect those changes, a committee for publishing a second edition of the report was formed within the Gastrointestinal Pathology Study Group of the Korean Society of Pathologists. This second edition consists of two parts: standard data elements and conditional data elements. The standard data elements contain the basic pathologic findings and items necessary to predict the prognosis of GC patients, and they are adequate for routine surgical pathology service. Other diagnostic and prognostic factors relevant to adjuvant therapy, including molecular biomarkers, are classified as conditional data elements to allow each pathologist to selectively choose items appropriate to the environment in their institution. We trust that the standardized pathology report will be helpful for GC diagnosis and facilitate large-scale multidisciplinary collaborative studies.

Anterior communicating artery (ACoA) aneurysms may rarely lead to oculomotor nerve palsy. We present here interesting cases in which isolated unilateral adduction paresis mimicking internuclear ophthalmoplegia (INO) was one of the symptoms of suspicious impending ruptured aneurysm of the ACoA. Careful neurologic examination is crucial for early discrimination with INO and oculomotor palsy.

Background/Aims: Fexuprazan is a novel potassium-competitive acid blocker that could be of benefit to patients with gastric mucosal injury. The aim of this study was to assess the 2-week efficacy and safety of fexuprazan in patients with acute or chronic gastritis. Methods: In this study, 327 patients with acute or chronic gastritis who had one or more gastric erosions on endoscopy and subjective symptoms were randomized into three groups receiving fexuprazan 20 mg once a day (q.d.), fexuprazan 10 mg twice a day (b.i.d.), or placebo for 2 weeks. The posttreatment assessments were the primary endpoint (erosion improvement rate), secondary endpoints (cure rates of erosion and edema and improvement rates of redness, hemorrhage, and subjective symptoms), and drug-related adverse events. Results: Among the patients, 57.8% (59/102), 65.7% (67/102), and 40.6% (39/96) showed erosion improvement 2 weeks after receiving fexuprazan 20 mg q.d., fexuprazan 10 mg b.i.d., and placebo, respectively. Both fexuprazan 20 mg q.d. and 10 mg b.i.d. showed superior efficacy to the placebo (p=0.017 and p<0.001, respectively). Likewise, both fexuprazan 20 mg q.d. and 10 mg b.i.d. also showed higher erosion healing rates than the placebo (p=0.033 and p=0.010, respectively). No difference was noted in the edema healing rate and the improvement rates for redness, hemorrhage, and subjective symptoms between the fexuprazan and placebo groups.No significant difference was noted in the incidence of adverse drug reactions. Conclusions Fexuprazan 20 mg q.d. and 10 mg b.i.d. for 2 weeks showed therapeutic efficacy superior to that of placebo in patients with acute or chronic gastritis (ClinicalTrials.gov identifier NCT04341454).

Background: Activating mutations in the tyrosine kinase domain of epidermal growth factor receptor (EGFR) are predictive biomarkers for response to EGFR–tyrosine kinase inhibitor (TKI) therapy in lung adenocarcinoma (LUAD). Here, we characterized the clinicopathologic features associated with EGFR mutations via peptide nucleic acid clamping-assisted fluorescence melting curve analysis (PANAMutyper) and evaluated the feasibility of targeted deep sequencing for detecting the mutations. Methods: We examined EGFR mutations in exons 18 through 21 for 2,088 LUADs from July 2017 to April 2020 using PANAMutyper. Of these, we performed targeted deep sequencing in 73 patients and evaluated EGFR-mutation status and TKI clinical response. Results: EGFR mutation was identified in 55.7% of LUADs by PANAMutyper, with mutation rates higher in females (69.3%) and never smokers (67.1%) and highest in the age range of 50 to 59 years (64.9%). For the 73 patients evaluated using both methods, next-generation sequencing (NGS) identified EGFR mutation–positive results in 14 of 61 patients (23.0%) who were EGFR-negative according to PANAMutyper testing. Of the 10 patients reportedly harboring a sensitizing mutation according to NGS, seven received TKI treatment, with all showing partial response or stable disease. In the 12 PANAMutyper-positive cases, NGS identified two additional mutations in exon 18, whereas a discordant negative result was observed in two cases. Conclusions Although PANAMutyper identified high frequencies of EGFR mutations, targeted deep sequencing revealed additional uncommon EGFR mutations. These findings suggested that appropriate use of NGS may benefit LUAD patients with otherwise negative screening test results.

Background: Differentiation of cerebellopontine angle (CPA) schwannoma from meningioma is often a difficult process to identify.Purpose: To identify imaging features for distinguishing CPA schwannoma from meningioma and to investigate the usefulness of susceptibility-weighted imaging (SWI) in differentiating them. Materials and Methods: Between March 2010 and January 2015, this study pathologically confirmed 11 meningiomas and 20 schwannomas involving CPA with preoperative SWI were retrospectively reviewed. Generally, the following MRI features were evaluated: 1) maximal diameter on axial image, 2) angle between tumor border and adjacent petrous bone, 3) presence of intratumoral dark signal intensity on SWI, 4) tumor consistency, 5) blood-fluid level, 6) involvement of internal auditory canal (IAC), 7) dural tail, and 8) involvement of adjacent intracranial space. On CT, 1) presence of dilatation of IAC, 2) intratumoral calcification, and 3) adjacent hyperostosis were evaluated. All features were compared using Chi-squared tests and Fisher’s exact tests. The univariate and multivariate logistic regression analysis were performed to identify imaging features that differentiate both tumors. Results: The results noted that schwannomas more frequently demonstrated dark spots on SWI (P = 0.025), cystic consistency (P = 0.034), and globular angle (P = 0.008); schwannomas showed more dilatation of internal auditory meatus and lack of calcification (P = 0.008 and P = 0.02, respectively). However, it was shown that dural tail was more common in meningiomas (P < 0.007). In general, dark spots on SWI and dural tail remained significant in multivariate analysis (P = 0.037 and P = 0.012, respectively). In this case, the combination of two features showed a sensitivity and specificity of 80% and 100% respectively, with an area under the receiver operating characteristic curve of 0.9. Conclusion In conclusion, dark spots on SWI were found to be helpful in differentiating CPA schwannoma from meningioma. It is noted that combining dural tail with dark spots on SWI yielded strong diagnostic value in differentiating both tumors.

Irritation fibroma is a reactive hyperplastic lesion caused by chronic stimuli with low intensity in the oral cavity. Irritation fibroma is common in middle-aged females but it may also occur at any age and sex. Clinical characteristics of irritation fibroma are similar to other reactive lesions or benign tumors, therefore, histological examination is essential to make an accurate diagnosis. This case report presents two cases of irritation fibroma occurred on the gingiva in young males. Two male patients in their 20s and 30s of age visited the clinic for the evaluation and treatment of painless gingival overgrowth in the anterior region. Clinically, the lesions were well-defined and firm, with similar color and texture to the adjacent normal gingiva. Excisional biopsy under local anesthesia was conducted with a scalpel, and the lesions were completely removed. Histopathologically, connective tissue consisting of dense collagen bundles, proliferation of fibroblasts and minor infiltrated inflammatory cells were observed. Based on the clinical and histopathological findings, the diagnosis of irritation fibroma was confirmed in both cases.