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.

Background/Aims: Epidermal growth factor receptor (EGFR) mutation is important in determining the treatment strategy for advanced lung cancer patients with malignant pleural effusion (MPE). Contrary to serum carcinoembryonic antigen (S-CEA) levels, the associations between pleural fluid CEA (PF-CEA) levels and EGFR mutation status as well as between PF-CEA levels and treatment efficacy have rarely been investigated in lung adenocarcinoma patients with MPE. Methods: This retrospective study enrolled lung adenocarcinoma patients with MPE and available PF-CEA levels and EGFR mutation results. The patients were categorized based on PF-CEA levels: < 10 ng/mL, 10–100 ng/mL, 100–500 ng/mL, and ≥ 500 ng/mL. The association between PF-CEA levels and EGFR mutation status as well as their therapeutic impact on overall survival was compared among the four groups. Results: This study included 188 patients. PF-CEA level was found to be an independent predictor of EGFR mutation but not S-CEA level. The EGFR mutation rates were higher as the PF-CEA levels increased, regardless of cytology results or sample types. Among EGFR-mutant lung adenocarcinoma patients receiving EGFR-tyrosine kinase inhibitor (TKI) treatment, those with high PF-CEA levels had significantly better survival outcomes than those with low PF-CEA levels. Conclusion High PF-CEA levels were associated with high EGFR mutation rate and may lead to a favorable clinical outcome of EGFR-TKI treatment in EGFR-mutant lung adenocarcinoma patients with MPE. These findings highlight the importance of actively investigating EGFR mutation detection in patients with suspected MPE and elevated PF-CEA levels despite negative cytology results.

Background/Aims: We evaluated the role of next-generation sequencing (NGS)-based disease monitoring for elderly patients diagnosed with acute myeloid leukemia (AML) who received decitabine therapy. Methods: A total of 123 patients aged > 65 years with AML who received decitabine were eligible. We analyzed the dynamics of variant allele frequency (VAF) in 49 available follow-up samples after the fourth cycle of decitabine. The 58.6% VAF clearance (Δ, [VAF at diagnosis − VAF at follow-up] × 100 / VAF at diagnosis) was the optimal cut-off for predicting overall survival (OS). Results: The overall response rate was 34.1% (eight patients with complete remission [CR], six of CR with incomplete hematologic recovery, 22 with partial responses, and six with morphologic leukemia-free status). Responders (n = 42) had significantly better OS compared with non-responders (n = 42) (median, 15.3 months vs. 6.5 months; p < 0.001). Of the 49 patients available for follow-up targeted NGS analysis, 44 had trackable gene mutations. The median OS of patients with ΔVAF ≥ 58.6% (n=24) was significantly better than that of patients with ΔVAF < 58.6% (n = 19) (20.5 months vs. 9.8 months, p = 0.010). Moreover, responders with ΔVAF ≥ 58.6% (n = 20) had a significantly longer median OS compared with responders with VAF < 58.6% (n = 11) (22.5 months vs. 9.8 months, p = 0.004). Conclusions This study suggested that combining ΔVAF ≥ 58.6%, a molecular response, with morphologic and hematologic responses can more accurately predict OS in elderly AML patients after decitabine therapy.

Aortobronchial fistula (ABF) involves the formation of an abnormal connection between the thoracic aorta and the central airways or the pulmonary parenchyma and is associated with an increased risk of mortality. An ABF typically manifests clinically with symptoms of hemoptysis, and currently, there is a lack of defined guidelines for its treatment. Here, we report the cases of two patients who suffered from recurrent hemoptysis due to ABF with pseudoaneurysm. We propose that removal of the aorta with concomitant lung resection and coverage of the aorta using the pericardial membrane is a definite treatment to lower recurrence of ABF and persistent infection.

The zinc finger protein ZBTB48 is a telomere-associated factor and renamed it as telomeric zinc finger-associated protein (TZAP). It binds preferentially to long telomeres competing with TRF1 and TRF2. However, its mutation in cancers has not been studied. In the present study, we analyzed TZAP mutation in 134 non-small cell lung cancers (NSCLCs). And its big data analysis was performed using COSMIC and TCGA data analysis. TZAP mutation was not found in 134 NSCLCs. And big data also showed that TZAP mutation was extremely low (0.59%, 15/2548). TCGA survival analysis showed no prognostic value of TZAP expression in lung adenocarcinoma (p = 0.185) and squamous cell carcinoma (p = 0.817). When stratified patients sorting as 25:25 (quarter), it has a significance (p = 0.003). This result suggested that genetic change of TZAP did not appear to be a possible molecular marker in lung cancer.

Boerhaave syndrome is a transmural perforation of the esophagus and typically occurs after forceful emesis. Boerhaave syndrome is a destructive disease with a high mortality rate, though surgical intervention within 24 hours has a beneficial effect. On the other hand, late surgical intervention is associated with poorer prognoses. Several therapeutic strategies, ranging from medical to surgical management, are available for Boerhaave syndrome. Recently, endoscopic endoluminal vacuum therapy (EVT) was introduced as a treatment option. Here, we report the case of a 56-year-old male patient with Boerhaave syndrome who was successfully treated by EVT after primary closure failure. The patient recovered without complication.
Endoscopy ; Esophageal Perforation ; Esophagus ; Hand ; Humans ; Male ; Middle Aged ; Mortality ; Prognosis ; Vacuum ; Vomiting

Dizziness ; Headache ; Humans ; Magnetic Resonance Imaging ; Methods ; Nasal Polyps ; Neurologic Examination ; Neurology

Mitochondrial calcium overload is a crucial event in determining the fate of neuronal cell survival and death, implicated in pathogenesis of neurodegenerative diseases. One of the driving forces of calcium influx into mitochondria is mitochondria membrane potential (ΔΨ(m)). Therefore, pharmacological manipulation of ΔΨ(m) can be a promising strategy to prevent neuronal cell death against brain insults. Based on these issues, we investigated here whether nobiletin, a Citrus polymethoxylated flavone, prevents neurotoxic neuronal calcium overload and cell death via regulating basal ΔΨ(m) against neuronal insult in primary cortical neurons and pure brain mitochondria isolated from rat cortices. Results demonstrated that nobiletin treatment significantly increased cell viability against glutamate toxicity (100 µM, 20 min) in primary cortical neurons. Real-time imaging-based fluorometry data reveal that nobiletin evokes partial mitochondrial depolarization in these neurons. Nobiletin markedly attenuated mitochondrial calcium overload and reactive oxygen species (ROS) generation in glutamate (100 µM)-stimulated cortical neurons and isolated pure mitochondria exposed to high concentration of Ca²⁺ (5 µM). Nobiletin-induced partial mitochondrial depolarization in intact neurons was confirmed in isolated brain mitochondria using a fluorescence microplate reader. Nobiletin effects on basal ΔΨ(m) were completely abolished in K⁺-free medium on pure isolated mitochondria. Taken together, results demonstrate that K⁺ influx into mitochondria is critically involved in partial mitochondrial depolarization-related neuroprotective effect of nobiletin. Nobiletin-induced mitochondrial K⁺ influx is probably mediated, at least in part, by activation of mitochondrial K⁺ channels. However, further detailed studies should be conducted to determine exact molecular targets of nobiletin in mitochondria.
Animals ; Brain ; Calcium* ; Cell Death ; Cell Survival ; Citrus ; Fluorescence ; Fluorometry ; Glutamic Acid ; Membrane Potential, Mitochondrial ; Membrane Potentials ; Membranes* ; Mitochondria ; Neurodegenerative Diseases ; Neurons ; Neuroprotective Agents ; Rats ; Reactive Oxygen Species

Patients with traumatic aortic rupture rarely reach the hospital alive. Even among those who arrive at the hospital alive, traumatic aortic rupture after high-speed motor vehicle accidents leads to a high in-hospital mortality rate and is associated with other major injuries. Here, we report a rare case of descending midthoracic aortic rupture with blunt diaphragmatic rupture. Successful management with emergency laparotomy after an immediate endovascular procedure resulted in a favorable prognosis in this case.

Bochdalek hernia (BH) is defined as herniated abdominal contents appearing throughout the posterolateral segment of the diaphragm. It is usually observed during the prenatal or newborn period. Here, we report a case of an adult patient with herniated omentum and colon due to BH that was discovered during a colonoscopy. A 41-year-old woman was referred to our hospital with severe left chest and abdominal pain that began during a colonoscopy. Her chest radiography showed colonic shadow filling in the lower half of the left thoracic cavity. A computed tomography scan revealed an approximately 6-cm-sized left posterolateral diaphragmatic defect and a herniated omentum in the colon. The patient underwent thoracoscopic surgery, during which, the diaphragmatic defect was closed and herniated omentum was repaired. The patient was discharged without further complications. To the best of our knowledge, this case is the first report of BH in an adult found during a routine colonoscopy screening.
Abdominal Pain ; Adult ; Colon ; Colonoscopy* ; Diaphragm ; Female ; Hernia* ; Hernia, Diaphragmatic ; Humans ; Infant, Newborn ; Mass Screening* ; Omentum ; Radiography ; Thoracic Cavity ; Thoracoscopy ; Thorax