In recent years, next-generation sequencing (NGS)–based genetic testing has become crucial in cancer care. While its primary objective is to identify actionable genetic alterations to guide treatment decisions, its scope has broadened to encompass aiding in pathological diagnosis and exploring resistance mechanisms. With the ongoing expansion in NGS application and reliance, a compelling necessity arises for expert consensus on its application in solid cancers. To address this demand, the forthcoming recommendations not only provide pragmatic guidance for the clinical use of NGS but also systematically classify actionable genes based on specific cancer types. Additionally, these recommendations will incorporate expert perspectives on crucial biomarkers, ensuring informed decisions regarding circulating tumor DNA panel testing.

In recent years, next-generation sequencing (NGS)–based genetic testing has become crucial in cancer care. While its primary objective is to identify actionable genetic alterations to guide treatment decisions, its scope has broadened to encompass aiding in pathological diagnosis and exploring resistance mechanisms. With the ongoing expansion in NGS application and reliance, a compelling necessity arises for expert consensus on its application in solid cancers. To address this demand, the forthcoming recommendations not only provide pragmatic guidance for the clinical use of NGS but also systematically classify actionable genes based on specific cancer types. Additionally, these recommendations will incorporate expert perspectives on crucial biomarkers, ensuring informed decisions regarding circulating tumor DNA panel testing.

Purpose: Gastric cancer (GC) is among the most prevalent and fatal cancers worldwide.National cancer screening programs in countries with high incidences of this disease provide medical aid beneficiaries with free-of-charge screening involving upper endoscopy to detect early-stage GC. However, the coronavirus disease 2019 (COVID-19) pandemic has caused major disruptions to routine healthcare access. Thus, this study aimed to assess the impact of COVID-19 on the diagnosis, overall incidence, and stage distribution of GC. Materials and Methods: We identified patients in our hospital cancer registry who were diagnosed with GC between January 2018 and December 2021 and compared the cancer stage at diagnosis before and during the COVID-19 pandemic. Subgroup analyses were conducted according to age and sex. The years 2018 and 2019 were defined as the “before COVID” period, and the years 2020 and 2021 as the “during COVID” period. Results: Overall, 10,875 patients were evaluated; 6,535 and 4,340 patients were diagnosed before and during the COVID-19 period, respectively. The number of diagnoses was lower during the COVID-19 pandemic (189 patients/month vs. 264 patients/month) than before it.Notably, the proportion of patients with stages 3 or 4 GC in 2021 was higher among men and patients aged ≥40 years. Conclusions During the COVID-19 pandemic, the overall number of GC diagnoses decreased significantly in a single institute. Moreover, GCs were in more advanced stages at the time of diagnosis. Further studies are required to elucidate the relationship between the COVID-19 pandemic and the delay in the detection of GC worldwide.

Membranous obstruction of the inferior vena cava (MOVC) is a rare subset of Budd-Chiari syndrome (BCS) with a subacute onset that is often complicated by cirrhosis and hepatocellular carcinoma (HCC). Here we report a case of recurrent HCC in a patient with cirrhosis and BCS that was treated with several episodes of transarterial chemoembolization followed by surgical tumorectomy, whereas the MOVC was successfully treated with balloon angioplasty followed by endovascular stenting. The patient was followed up for 9.9 years without anticoagulation and experienced no stent thrombosis. After the tumorectomy, the patient was HCC-free for 4.4 years of follow-up.

BACKGROUND/AIMS: Phosphatase and tensin homolog (PTEN) is a known tumor suppressor gene that is downregulated in hepatocellular carcinoma (HCC). Here, we investigated the association between single nucleotide polymorphisms (SNPs) of PTEN and HCC development in patients with hepatitis B virus (HBV) infection. METHODS: Six SNPs of PTEN at positions rs1234221, rs1903860, rs1234220, rs1903858, rs2299941, and rs17431184 were analyzed in a development population (417 chronic HBV carriers without HCC and 281 chronic HBV carriers with HCC). PTEN rs1903858, rs1903860, and rs2299941 SNPs were further assessed for the development of HCC in a validation population of 200 patients with HBV-related liver cirrhosis. RESULTS: In the development population, PTEN rs1903860 C allele, rs1903858 G allele, and rs2299941 G allele were associated with a low risk of HCC. The haplotype A-T-A-A-A was associated with an increased risk of HCC (recessive model; odds ratio=2.277, 95% confidence interval [CI] =1.144-4.532, P=0.019). In the validation population, PTEN rs2299941 G allele was the only significant protective genetic polymorphism related to HCC development after adjustment for age and sex (hazard ratio=0.582, 95% CI =0.353–0.962, P=0.035). CONCLUSIONS: These findings suggest that genetic polymorphisms in PTEN may affect HCC development in patients with chronic HBV infection.
Alleles ; Carcinoma, Hepatocellular ; Genes, Tumor Suppressor ; Haplotypes ; Hepatitis B virus ; Hepatitis B ; Hepatitis ; Humans ; Liver Cirrhosis ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide

BACKGROUND: Mast cell leukemia (MCL) is the most aggressive form of systemic mastocytosis disorders. Owing to its rarity, neither pathogenesis nor standard treatment is established for this orphan disease. Hence, we tried to treat a patient with MCL based on the exome and transcriptome sequencing results of the patient's own DNA and RNA. METHODS: First, tumor DNA and RNA were extracted from bone marrow at the time of diagnosis. Germline DNA was extracted from the patient's saliva 45 days after induction chemotherapy and used as a control. Then, we performed whole-exome sequencing (WES) using the DNA and whole transcriptome sequencing (WTS) using the RNA. Single nucleotide variants (SNVs) were called using MuTect and GATK. Samtools, FusionMap, and Gene Set Enrichment Analysis were utilized to analyze WTS results. RESULTS: WES and WTS results revealed mutation in KIT S476I. Fusion analysis was performed using WTS data, which suggested a possible RARα-B2M fusion. When RNA expression analysis was performed using WTS data, upregulation of PIK3/AKT pathway, downstream of KIT and mTOR, was observed. Based on our WES and WTS results, we first administered all-trans retinoic acid, then dasatinib, and finally, an mTOR inhibitor. CONCLUSION: We present a case of orphan disease where we used a targeted approach using WES and WTS data of the patient. Even though our treatment was not successful, use of our approach warrants further validation.
Bone Marrow ; Diagnosis ; DNA ; Exome ; Humans ; Precision Medicine ; Induction Chemotherapy ; Leukemia ; Leukemia, Mast-Cell* ; Mast Cells* ; Mastocytosis, Systemic ; Rare Diseases ; RNA ; Saliva ; Transcriptome ; Tretinoin ; Up-Regulation ; Dasatinib

OBJECTIVE: Quantitative electroencephalography (qEEG) has been increasingly used to evaluate patients with attention deficit hyperactivity disorder (ADHD). The aim of this study was to assess the correlation between qEEG data and symptom severity in patients with ADHD. METHODS: Fifteen patients with ADHD and 20 healthy controls (HCs) were recruited. Electroencephalography was assessed in the resting-state, and qEEG data were obtained in the eyes-closed state. The Korean version of the ADHD Rating Scale (K-ARS) and continuous performance tests (CPTs) were used to assess all participants. RESULTS: Theta-band (4-7 Hz) power across the brain was significantly positively correlated with inattention scores on the K-ARS, reaction times and commission errors on the CPTs in ADHD patients. Gamma-band (31-50 Hz) power was significantly positively correlated with the results of the auditory CPTs in ADHD patients. The theta/alpha (8-12 Hz) and theta/beta (13-30 Hz) ratios were significantly negatively correlated with commission and omission errors on auditory CPTs in ADHD patients. No significant correlations between qEEG relative power and K-ARS and CPT scores were observed in HCs. CONCLUSION: Our results suggest that qEEG may be a useful adjunctive tool in patients with ADHD.
Attention Deficit Disorder with Hyperactivity* ; Brain ; Electroencephalography* ; Humans ; Male* ; Reaction Time*

Metformin, a dimethylbiguanide, is an oral antihyperglycemic drug used in treatment of type 2 diabetes mellitus. It has been reported that metformin may be associated with lactic acidosis in patients with clinical conditions such as renal failure and heart failure. Metformin-associated lactic acidosis (MALA) is a rare, but serious complication with a mortality rate of approximately 30~50%. Therefore, an aggressive treatment strategy including hemodialysis is recommended for these patients. Although continuous renal replacement therapy (CRRT) has been administered in hemodynamically unstable patients with MALA, there are few case reports describing the use of CRRT as a therapeutic modality in Korea. Here, we describe the case histories of two MALA patients who underwent treatment with CRRT.
Acidosis ; Acidosis, Lactic* ; Diabetes Mellitus, Type 2 ; Heart Failure ; Humans ; Korea ; Metformin ; Mortality ; Renal Dialysis ; Renal Insufficiency ; Renal Replacement Therapy

Cryptococcus neoformans, an encapsulated fungus, is an important opportunistic pathogen that can cause meningitis in immunocompromised patients. Since patients with cryptococcemia have high mortality, it is essential to make an early diagnosis and promptly initiate antifungal therapy. However, it is often very difficult to differentiate between cryptococcal meningitis and hepatic encephalopathy in patients with liver cirrhosis, and there is delay in making the diagnosis. Therefore, these patients have a particularly grave prognosis and consequently many patients die before culture results become available. In one study, starting antifungal therapy within 48 hours of the blood culture was associated with improved survival, but patients with liver cirrhosis were significantly less likely to receive antifungal therapy within 48 hours compared to those without liver cirrhosis. Recently, the authors experience a case of a 68-year-old woman with liver cirrhosis who presented with fever and a drowsy mental status. She had a previous history of having been admitted for infection-associated hepatic encephlopathy. Cryptococcal meningitis and cryptococcemia were diagnosed by spinal puncture and culture of cerebrospinal fluid. In spite of adequate treatment, the patient developed multi-system organ failure and eventually expired. Herein, we report a case of cryptococcal meningitis mimicking hepatic encephalopathy in a patient with liver cirrhosis.
Aged, 80 and over ; Brain/radiography ; Cryptococcus/isolation & purification ; Female ; Hepatic Encephalopathy/complications/*diagnosis ; Hepatitis C, Chronic/complications/pathology ; Humans ; Liver Cirrhosis/etiology/pathology ; Meningitis, Cryptococcal/complications/*diagnosis/microbiology ; Tomography, X-Ray Computed

Paraquat poisoning can cause severe multiple organ failure involving the kidneys, liver, lungs, adrenals, and central nervous system. The toxic effect of paraquat on the lung manifests as pulmonary edema, hypoxia, respiratory failure, and pulmonary fibrosis. However, optimal guidelines for treatment of lung fibrosis following paraquat ingestion are not available. We experienced two cases, a 45-year-old Korean male and a 66-year-old Korean male, who visited the emergency center because of paraquat poisoning. They initially received methylprednisolone pulse therapy and cyclophosphamide. Then they experienced pulmonary fibrosis approximately 10 days after admission during renal recovery. Although steroid pulse therapy with cyclophosphamide was reported to reduce mortality due to paraquat poisoning, the side effects of cyclophosphamide treatment were concerning in our patients, who had already received cyclophosphamide. Therefore, we decided to repeat steroid pulse therapy without cyclophosphamide. Fortunately, pulmonary fibrosis in these two patients resolved after repeated steroid pulse therapy. Thus, steroid pulse therapy alone could benefit patients with lung fibrosis, who have already received steroid and cyclophosphamide treatment. Herein, we report on two cases of pulmonary fibrosis due to paraquat poisoning that were treated successfully with repeated steroid pulse therapy.
Aged ; Anoxia ; Central Nervous System ; Cyclophosphamide ; Eating ; Emergencies ; Fibrosis ; Humans ; Kidney ; Liver ; Lung ; Male ; Methylprednisolone ; Middle Aged ; Mortality ; Multiple Organ Failure ; Paraquat* ; Poisoning* ; Pulmonary Edema ; Pulmonary Fibrosis* ; Respiratory Insufficiency ; Steroids