• Investigative Magnetic Resonance Imaging
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• v.22 no.4
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• pp.254-259
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• 2018

Application of magnetic resonance imaging (MRI) for assessment of pulmonary disease has been limited, due to susceptibility to cardiac pulsation, respiratory motion, and inhomogeneity of the magnetic field of the lung. With technical advances of MRI and unmet clinical needs for more accurate diagnosis and assessment of the disease, however, the use of MRI for evaluation of the lung has broadened. Herein, we present a case of pneumonic-type lung adenocarcinoma in a patient with history of anaphylactic shock to iodinated contrast medium, in which MRI played a critical role for targeted lung biopsy and cancer staging. Through this paper, we would like to report potential value of MRI in assessment of lung cancer.

• Childhood Kidney Diseases
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• v.26 no.2
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• pp.80-85
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• 2022

Purpose: To determine the prevalence, clinical manifestations, and outcomes of renal involvements in pediatric Alagille syndrome (ALGS). Methods: A total of 21 patients diagnosed with ALGS at age under 18 years who visited Samsung Medical Center from March 1999 to March 2022 were enrolled. ALGS was diagnosed either by clinical manifestations, targeted JAG1 sequencing, and/or liver biopsy. Medical records including sex, age, renal manifestations, urinalysis, serum creatinine, JAG1 sequencing, and ultrasonography were retrospectively reviewed. Results: The male to female ratio was 9:12. The mean age of patients at confirmative diagnosis of ALGS was 18.4 months. Sanger sequencing was performed for 17 patients. Sixteen of 21 patients (76.1%) showed JAG1 mutations. Renal involvement was found in 10 patients (47.6%). The most common type of anomaly was renal dysplasia (40%). One patient having renal dysplasia was pathologically confirmed with glomerular lipid deposition. Two patients (20%) manifested nephrocalcinosis/nephrolithiasis. Among eight renal-involved patients who survived, four (50%) progressed to chronic kidney disease stage 3. Two of these chronic kidney disease patients were diagnosed with hepatorenal syndrome. The other four patients had renal functions preserved, including two without any interventions and two who underwent urological interventions. Conclusions: The current study revealed a high prevalence of renal involvement in Korean pediatric ALGS with diverse phenotypes.

• BMB Reports
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• v.57 no.3
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• pp.155-160
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• 2024

Lung cancer carries one of the highest mortality rates among all cancers. It is often diagnosed at more advanced stages with limited treatment options compared to other malignancies. This study focuses on calnexin as a potential biomarker for diagnosis and treatment of lung cancer. Calnexin, a molecular chaperone integral to N-linked glycoprotein synthesis, has shown some associations with cancer. However, targeted therapeutic or diagnostic methods using calnexin have been proposed. Through 1D-LCMSMS, we identified calnexin as a biomarker for lung cancer and substantiated its expression in human lung cancer cell membranes using Western blotting, flow cytometry, and immunocytochemistry. Anti-calnexin antibodies exhibited complement-dependent cytotoxicity to lung cancer cell lines, resulting in a notable reduction in tumor growth in a subcutaneous xenograft model. Additionally, we verified the feasibility of labeling tumors through in vivo imaging using antibodies against calnexin. Furthermore, exosomal detection of calnexin suggested the potential utility of liquid biopsy for diagnostic purposes. In conclusion, this study establishes calnexin as a promising target for antibody-based lung cancer diagnosis and therapy, unlocking novel avenues for early detection and treatment.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.3
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• pp.96-102
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• 2017

Glycogen storage disease type IX (GSD IX) is caused by deficiency of phosphorylase kinase which plays a role in breakdown of glycogen. Mutations in PHKA2 are the most common cause of GSD IX (GSD IXa). Clinical manifestations of GSD IXa include hepatomegaly, elevation of liver enzyme, growth retardation, fasting hypoglycemia, and fasting ketosis. However, the symptoms overlap with those of other types of GSDs. Here, we report Korean familial cases with GSD IXa whose diagnosis was confirmed by targeted exome sequencing. A 4-year old male patient was presented with hepatomegaly and persistently elevated liver enzyme. Liver biopsy revealed swollen hepatocyte filled with glycogen storage, suggesting GSDs. Targeted exome sequencing was performed for the differential molecular diagnosis of various types of GSDs. A hemizygous mutation in PHKA2 were detected by targeted exome sequencing and confirmed by Sanger sequencing: c.3632C>T (p.Thr121Met), which was previously reported. The familial genetic analysis revealed that his mother was heterozygous carrier of c.3632C>T mutation and his 28-month old brother had hemizygous mutation. His brother also had hepatomegaly and elevated liver enzyme. The hypoglycemia was prevented by frequent meals with complex carbohydrate, as well as cornstarch supplements. Their growth and development is in normal range. We suggest that targeted exome sequencing could be a useful diagnostic tool for the genetically heterogeneous and clinically indistinguishable GSDs. A precise molecular diagnosis of GSD can provide appropriate therapy and genetic counseling for the family.

• Journal of the Korean Society of Radiology
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• v.85 no.3
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• pp.566-578
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• 2024

Purpose This study investigated whether the respiratory phase during pleural puncture in CT-guided percutaneous transthoracic needle biopsy (PTNB) affects complications. Materials and Methods We conducted a retrospective review of 477 lung biopsy CT scans performed during free breathing. The respiratory phases during pleural puncture were determined based on the table position of the targeted nodule using CT scans obtained during free breathing. We compared the rates of complications among the inspiratory, mid-, and expiratory respiratory phases. Logistic regression analysis was performed to control confounding factors associated with pneumothorax. Results Among the 477 procedures, pleural puncture was performed during the expiratory phase in 227 (47.6%), during the mid-phase in 108 (22.6%), and during the inspiratory phase in 142 (29.8%). The incidence of pneumothorax was significantly lower in the expiratory puncture group (40/227, 17.6%; p = 0.035) and significantly higher in the mid-phase puncture group (31/108, 28.7%; p = 0.048). After controlling for confounding factors, expiratory-phase puncture was found to be an independent protective factor against pneumothorax (odds ratio = 0.571; 95% confidence interval = 0.360-0.906; p = 0.017). Conclusion Our findings suggest that pleural puncture during the expiratory phase may reduce the risk of pneumothorax during image guided PTNB.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.17
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• pp.7125-7128
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• 2014

Background: Acquired genetic alterations and presence of sensitizing mutations in the tyrosine kinase domain of EGFR and other signaling molecules have been found in different subsets of primary lung adenocarcinoma. The commonest EGFR mutations are small in frame deletions of exon 19 and a point mutation (L858R) in exon 21, having a combined occurrence of around 90%. The objective of this study was to determine the frequency and types of EGFR mutations in primary lung adenocarcinomas in Pakistan. Materials and Methods: EGFR mutations in tumor samples were screened by multiplex real time PCR. Briefly, DNA from formalin fixed paraffin-embedded tissue was amplified with primers and probes specific to 43 different EGFR mutations in a Cobas z 480 instrument. The assay detects mutations in four exons (18-21) of the EGFR gene. Results: Out of 94 patients, 65 were males and 29 females with a M:F ratio of 2.2: 1. The median age was 62 years (range, 28 - 85 years). In our biopsy samples 70 (74%) cases were of primary lung adenocarcinoma, whereas 24 (26%) were confirmed metastatic adenocarcinoma of primary lung origin. EGFR mutation was positive in 29% of the patients. The highest frequency of L858R was observed in 48% of these, followed by deletion in exon 19 (44%). In addition, other rare mutations such as compound G718X:S768I and insertions in exon 20 insertion were detected in approximately 4% of the patients. Conclusions: This study showed that Del 19 and L858R are the most frequent mutations in Pakistani lung adenocarcinoma patients and around 29% of the patients were found eligible for erlotinib therapy.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.4
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• pp.1831-1835
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• 2014

Background: To investigate the relationship between extracellular matrix parameters and texture of prostatic lesions evaluated by transrectal real-time tissue elastography (TRTE). Methods: 120 patients suspicious for prostate cancer underwent TRTE. Targeted biopsies were carried out after 12-core systematic biopsy. Epithelia were stained with hematoxylin-eosin, and Victoria blue and Ponceau S were used to stain elastic-collagen fibers, and picric acid-sirius red for visualization of collagen type I (Col1) and III (Col3). Smooth muscles were visualized by immunohistochemistry. All image analyses were performed in a blind manner using Image Pro Plus 6.0, and the area ratios of epithelium, elastic fibers, collagen fibers and Col1/Col3 were determined. Results: 42 patients with typical elastograms were included in the final data analysis. Significant differences were detected between the benign and malignant groups in the area ratios of epithelium (P = 0.01), smooth muscles and Col1/Col3 (P = 0.04, P = 0.02, respectively). There were no significant differences in the area ratios of epithelium, smooth muscle and elastic fibers between the stiff and soft lesion groups. The area ratio of Col1 was ($0.05{\pm}0.03$) in the stiff group, and ($0.02{\pm}0.01$) in the soft group (P= 0.00). However, the area ratio of Col3 was ($0.03{\pm}0.02$) in the stiff group, and ($0.05{\pm}0.04$) in the soft group (P = 0.16). Col1/Col3 in the stiff group ($1.99{\pm}1.59$) was greater than in the soft group ($0.71{\pm}0.64$) (P = 0.01). Conclusions: Tissue hardness of prostatic tumors was mainly dependent on the Col1 content, Col1/Col3 being higher in malignant than in benign lesions, so the prostate tissue texture can be used as a target for distinguishing between the two with TRTE.

• Journal of Digital Convergence
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• v.14 no.1
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• pp.305-310
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• 2016

Recently as the ultrasonography became generalized, the annual change rate of the incidence of thyroid cancer extraordinarily grew to 24.5% in Korea. Therefore, the aim of this study was performed to identify the risk factors of thyroid cancer apart from conventional risk factors of dietary iodine and ionizing radiation. In this retrospective study, 411 patients underwent fine-needle aspiration biopsy were examined from January 2011 to March 2013. The subjects are divided into two groups which are 260 patients with benign nodule and 151 patients with malignancy nodule. We compared age, hematologic values, body mass index, waist circumference, menopausal status, breast nodules status, uterine myoma status, fatty liver status of targeted group of patients. According to the result, in thyroid cancer group with obesity, the number of case of breast nodules and myoma was higher, and their thyroid stimulating hormone values was higher than the benign nodule group. In order to establish factors influencing thyroid and thyroid cancer, there is a definite need for continuous study.

• Tuberculosis and Respiratory Diseases
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• v.43 no.6
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• pp.916-924
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• 1996

Bacground : Percutaneous needle aspiration biopsy (PCNA) is one of the most frequently used diagnostic methcxJs for intrathoracic lesions. Previous studies have reponed wide range of diagnostic yield from 28 to 98%. However, diagnostic yield has been increased by accumulation of experience, improvement of needle and the image guiding systems. We analysed the results of PCNA performed for one year to evaluate the diagnostic yield, the rate and severity of complications and factors affecting the diagnostic yield. Method : 287 PCNAs undergone in 236 patients from January, 1994 to December, 1994 were analysed retrospectively. The intrathoracic lesions was targeted and aspirated with 21 - 23 G Chiba needle under fluoroscopic guiding system. Occasionally, 19 - 20 G Biopsy gun was used for core tissue specimen. The specimen was requested for microbiologic, cytologic and histopathologic examination in the case of obtained core tissue. Diagnostic yields and complication rate of benign and malignant lesions were ca1culaled based on patients' chans. The comparison for the diagnostic yields according to size and shape of the lesions was analysed with chi square test (p<0.05). Results : There are 19.9% of consolidative lesion and 80.1% of nodular or mass lesion, and the lesion is located at the right upper lobe in 26.3% of cases, the right middle lobe in 6.4%, the right lower lobe 21.2%, the left upper lobe in 16.8%, the left lower lobe in 10.6%, and mediastinum in 1.3%. The lesion distributed over 2 lobes is as many as 17.4% of cases. There are 74 patients with benign lesions, 142 patients with malignant lesions in final diagnosis and confirmative diagnosis was not made in 22 patients despite of all available diagnostic methods. 2 patients have lung cancer and pulmonary tuberculosis concomittantly. Experience with 236 patients showed that PCNA can diagnose benign lesions in 62.2% (42 patients) of patients with such lesions and malignant lesions in 82.4% (117 patients) of patients. For the patients in whom the first PCNA failed to make diagnosis, the procedure was repeated and the cumulative diagnostic yield was increased as 44.6%, 60.8%, 62.2% in benign lesions and as 73.4%, 81.7%, 82.4% in malignant lesions through serial PCNA. Thoracotomy was performed in 9 patients with benign lesions and in 43 patients with malignant lesions. PCNA and thoracotomy showed the same pathologic result in 44.4% (4 patients) of benign lesions and 58.1% (25 patients) of malignant lesions. Thoracotomy confirmed 4 patients with malignat lesions against benign result of PCNA and 2 patients with benign lesions against malignant result of PCNA. There are 1.0% (3 cases) of hemoptysis, 19.2% (55 cases) of blood tinged sputum, 12.5% (36 cases) of pneumothorax and 1.0% (3 cases) of fever through 287 times of PCNA. Hemoptysis and blood tinged sputum didn't need therapy. 8 cases of pneumothorax needed insertion of classical chest tube or pig-tail catheter. Fever subsided within 48 hours in all cases. There was no difference between size and shape of lesion with diagnostic yield. Conclusion: PCNA shows relatively high diagnostic yield and mild degree complications but the accuracy of histologic diagnosis has to be improved.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.1
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• pp.321-326
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• 2014

Background: Mutations in the tyrosine kinase domain of the epidermal growth factor receptor (EGFR) in non-small cell lung cancer (NSCLC) are predictive of response to EGFR-targeted therapy in advanced stages of disease. This study aimed to determine the frequency of EGFR mutations in NSCLCs and to correlate their presence with clinical characteristics in multiethnic Malaysian patients. Materials and Methods: In this prospective study, EGFR mutations in exons 18, 19, 20 and 21 in formalin-fixed paraffin-embedded biopsy specimens of consecutive NSCLC patients were asessed by real-time polymerase chain reaction. Results: EGFR mutations were detected in NSCLCs from 55 (36.4%) of a total of 151 patients, being significantly more common in females (62.5%) than in males (17.2%) [odds ratio (OR), 8.00; 95% confidence interval (CI), 3.77-16.98; p<0.001] and in never smokers (62.5%) than in ever smokers (12.7%) (OR, 11.50; 95%CI, 5.08-26.03; p<0.001). Mutations were more common in adenocarcinoma (39.4%) compared to non-adenocarcinoma NSCLCs (15.8%) (p=0.072). The mutation rates in patients of different ethnicities were not significantly different (p=0.08). Never smoking status was the only clinical feature that independently predicted the presence of EGFR mutations (adjusted OR, 5.94; 95%CI, 1.94-18.17; p=0.002). Conclusions: In Malaysian patients with NSCLC, the EGFR mutation rate was similar to that in other Asian populations. EGFR mutations were significantly more common in female patients and in never smokers. Never smoking status was the only independent predictor for the presence of EGFR mutations.