• Journal of Genetic Medicine
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• v.15 no.2
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• pp.79-86
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• 2018

Purpose: This study aimed to evaluate the clinical usefulness of non-invasive prenatal testing (NIPT) as an alternative testing of invasive diagnostic testing in pregnancies with ultrasound abnormalities. Materials and Methods: This was a retrospective study of pregnant women with abnormal ultrasound findings before 24 weeks of gestation between April 2016 and March 2017. Abnormal ultrasound findings included isolated increased nuchal translucency, structural anomalies, and soft markers. The NIPT or diagnostic test was conducted and NIPT detected trisomy 21 (T21), T18, T13 and sex chromosomal abnormalities. We analyzed the false positive and residual risks of NIPT based on the ultrasound findings. Results: During the study period, 824 pregnant women had abnormal ultrasound findings. Among the study population, 139 patients (16.9%) underwent NIPT. When NIPT was solely performed in the patients with abnormal ultrasound findings, overall false positive risk was 2.2% and this study found residual risks of NIPT. However, the discordant results of NIPT differed according to the type of abnormal ultrasound findings. Discordant results were significant in the group with structural anomalies with 4.4% false positive rate. However, no discordant results were found in the group with single soft markers. Conclusion: This study found different efficacy of NIPT according to the ultrasound findings. The results emphasize the importance of individualized counseling for prenatal screening or diagnostic test based on the type of abnormal ultrasound.

• Journal of Gastric Cancer
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• v.23 no.2
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• pp.264-274
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• 2023

Purpose: In this study, polymerase chain reaction (PCR)-based microsatellite instability (MSI) testing was comprehensively analyzed and compared with immunohistochemistry (IHC) for mismatch repair (MMR) protein expression in patients with gastric cancer (GC). Materials and Methods: In 5,676 GC cases, PCR-based MSI testing using five microsatellites (BAT-26, BAT-25, D5S346, D2S123, and D17S250) and IHC for MLH1 were performed. Reevaluation of MSI testing/MLH1 IHC and additional IHC for MSH2, MSH6, and PMS2 were performed in discordant/indeterminate cases. Results: Of the 5,676 cases, microsatellite stable (MSS)/MSI-low and intact MLH1 were observed in 5,082 cases (89.5%), whereas MSI-high (MSI-H) and loss of MLH1 expression were observed in 502 cases (8.8%). We re-evaluated the remaining 92 cases (1.6%) with a discordant/indeterminate status. Re-evaluation showed 1) 37 concordant cases (0.7%) (18 and 19 cases of MSI-H/MMR-deficient (dMMR) and MSS/MMR-proficient (pMMR), respectively), 2) 6 discordant cases (0.1%) (3 cases each of MSI-H/pMMR and MSS/dMMR), 3) 14 MSI indeterminate cases (0.2%) (1 case of dMMR and 13 cases of pMMR), and 4) 35 IHC indeterminate cases (0.6%) (22 and 13 cases of MSI-H and MSS, respectively). Finally, MSI-H or dMMR was observed in 549 cases (9.7%), of which 47 (0.8%) were additionally confirmed as MSI-H or dMMR by reevaluation. Sensitivity was 99.3% for MSI testing and 95.4% for MMR IHC. Conclusions: Considering the low incidence of MSI-H or dMMR, discordant/indeterminate results were occasionally identified in GCs, in which case complementary testing is required. These findings could help improve the accuracy of MSI/MMR testing in daily practice.

• Tuberculosis and Respiratory Diseases
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• v.83 no.4
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• pp.283-288
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• 2020

Background: Latent tuberculosis (TB) infection among TB contacts is diagnosed using plain chest radiography and interferon-gamma release assays (IGRAs). However, plain chest radiographs often miss active TB, and the results of IGRA could fluctuate over time. The purpose of this study was to elucidate changes in the results of the serial IGRAs and in the findings of the serial submillisievert chest computed tomography (CT) scans among the close contacts of active pulmonary TB patients. Methods: Patients age 20 or older with active pulmonary TB and their close contacts were invited to participate in this study. Two types of IGRA (QuantiFERON-TB Gold In-Tube assay [QFT-GIT] and the T-SPOT.TB test [T-SPOT]) and submillisievert chest CT scanning were performed at baseline and at 3 and 12 months after enrollment. Results: In total, 19 close contacts participated in this study. One was diagnosed with active pulmonary TB and was excluded from further analysis. At baseline, four of 18 contacts (22.2%) showed positive results for QFT-GIT and T-SPOT; there were no discordant results. During the follow-up, transient and permanent positive or negative conversions and discordant results between the two types of IGRAs were observed in some patients. Among the 17 contacts who underwent submillisievert chest CT scanning, calcified nodules were identified in seven (41.2%), noncalcified nodules in 14 (82.4%), and bronchiectasis in four (23.5%). Some nodules disappeared over time. Conclusion: The results of the QFT-GIT and T-SPOT assays and the CT images may change during 1 year of observation of close contacts of the active TB patients.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.20
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• pp.8613-8616
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• 2014

Background: The diagnostic approach to thyroid nodules involves ultrasound-guided fine needle aspiration biopsy (US-FNAB). We especially aimed to evaluate the contribution and the place of US-FNAB in preoperative evaluation of the malignant cases and draw attention to discordant cases diagnosed with papillary thyroid microcarcinoma (PTMC). Materials and Methods: A total of 276 cases were retrospectively reviewed who were subsequently diagnosed with a malignancy and who underwent US-FNAB. Results: Some 45 were found to have previously undergone the US-FNAB procedure. Of the patients in whom the surgical specimen was diagnosed with a malignancy, 21 (46.7%) were diagnosed as malignant or suspicious for malignancy, and 24 (53.3%) were concluded as benign or insufficient for diagnosis. Patients with the diagnosis of PTMC outnumbering the others was a striking finding (11 cases, 24%). Conclusions: We suggest performing repeat aspiration biopsy considering sampling errors in cases where inconsistency exists between clinical findings and cytological results in thyroid nodules smaller than 10 mm in diameter and with suspicious findings on ultrasonography.

• Asian Pacific Journal of Cancer Prevention
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• v.13 no.2
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• pp.641-646
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• 2012

In our recent report on gene expression in gastric cancer we identified the endo-sulfatase Sulf-1 gene to be up-regulated in gastric tumors relative to apparently normal (AN), and paired normal (PN) gastric tissue samples. In the present report we investigate the protein expression levels of Sulf-1 gene in gastric tumors, AN and PN samples using tissue microarray (TMA) and immunohistochemistry. Expression data was collected from two sets of TMA's containing replicate sections of tissue samples. Scoring data from TMA set-1 revealed a significant difference in Sulf-1 immunoreactivity between tumors and "normals" (PN and AN) (p-value = 0.001928). Also, Sulf-1 expression in tumors was also significantly different from either PN (p-value = 0.019) or AN (p-value = 0.006) samples. Similar results were obtained from analysis of scoring data from the second set of arrays. Comparison of mRNA expression and protein expression in gastric tumor tissues revealed that in 6/20 (30%) tumor samples showed up-regulated protein expression concordant with over-expression of mRNA. However, a discord with mRNA being over-expressed relative to down regulated protein expression was observed in majority 14/20 (70%) of tumor samples. Our study indicates down regulation of Sulf-1 protein expression in gastric tumors relative to PN and AN samples which is discordant with mRNA over-expression seen in tumors.

• Nuclear Medicine and Molecular Imaging
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• v.43 no.2
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• pp.129-136
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• 2009

Purpose: To determine optimal imaging time for diagnostic I-123 whole body scan in the follow-up of patients with differentiated thyroid cancer(DTC), we compared the image quality of 6- and 24-hour images of the same subjects. Materials and Methods: Four hundred ninety-eight patients(M:F = 55:443, Age $47.6{\pm}12.9$ years) with DTC who had undergone total thyroidectomy and I-131 ablation therapy underwent diagnostic whole body scanning 6 hour and 24 hour after oral ingestion of 185 MBq(5 mCi) of I-123. Serum thyroglobulin measurement and ultrasonography of the neck were performed at the time of imaging. In 40 patients underwent additional I-131 therapy, post-therapy I-131 images were obtained and compared with diagnostic I-123 images. Results: In 440 patients(88.4%), 6- and 24-hour diagnostic I-123 images were concordant, and 58 patients(11.6%) showed discordant findings. Among 58 discordant patients, 31 patients showed abnormal tracer uptake on only 6-hour image, which turned out false-positive findings in all cases. In 12 patients with positive findings on only 24-hour image, remnant thyroid tissue(4 patients) and cervical lymph node metastasis(3 patients) were presented. Among 40 patients underwent additional I-131 therapy, 6-hour and 24-hour images were discordant in 13 patients. All 5 patients with abnormal uptake on only 6-hour image revealed false-positive results, whereas most of 24-hour images were concordant with post-therapy I-131 images. Conclusion: I-123 imaging at 24-hour could reduce false-positive findings and improve diagnostic accuracy, compared with 6-hour image in the follow-up of patient with DTC.

• BLOOD RESEARCH
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• v.53 no.4
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• pp.281-287
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• 2018

Background Bone marrow involvement (BMI) affects the lymphoma stage, survival, and treatment. Bone marrow biopsy (BMB) and fluorodeoxyglucose (FDG) positron emission tomography-computed tomography (PET/CT) are useful techniques to detect BMI. Both have advantages and disadvantages. We aimed to identify factors that could be used to predict BMI with positive and negative results on PET/CT compare them with BMB in newly diagnosed patients with lymphoma. Methods We included 22 non-Hodgkin and 16 Hodgkin lymphoma patients in this single center study. All patients had PET/CT examination and BMB before treatment. BMI in BMB was reported as negative or positive. Bone marrow was classified into 3 types by FDG uptake on PT/CT; diffuse involvement, focal involvement, and normal bone marrow. Results PET/CT and BMB results were concordant (7 positive, 15 negative) in 22 patients (57%). We evaluated concordant and discordant patient characteristics and risk-stratified patients for BMI. Our findings suggest that patients with diffuse FDG uptake on PET/CT, especially patients with advanced age and low platelet and white blood cell counts, are likely to have BMI and could potentially forego BMB. Patients with negative PET/CT findings and no significant laboratory abnormalities are very unlikely to have BMI. Conclusion Our results suggest that BMI should not be decided solely based PET/CT or BMB findings. It is reasonable to use both diagnostic assays along with clinical and laboratory findings. PET/CT result, clinical and laboratory findings could be useful for predicting BMI in patient for whom BMB is contraindicated.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.17 no.3
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• pp.186-190
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• 2014

Lymphocytic gastritis (LG) is a rare subtype of chronic gastritis. It is defined as dense proliferation of intraepithelial lymphocytes (IELs) more than 25 lymphocytes per 100 epithelial cells. The known major causes of LG are celiac disease and Helicobacter pylori infection. H. pylori associated LG (HpLG) has more enhanced cytotoxic and apoptotic tendencies than chronic H. pylori gastritis. A 12-year-old girl with postprandial epigastric pain was diagnosed HpLG on endoscopic biopsy. After the 1st eradication therapy, H. pylori bacilli were still found, and urea breathing test was positive. Although the endoscopic finding was partially improved, clinical symptoms and histologic finding were persisted. We could achieve the improvement of clinical symptoms and disappearance of IELs after the 2nd eradication. The discordant of histopathologic and endoscopic improvement occurred after the 1st eradication therapy of HpLG. Therefore the clinical and histopathologic evaluation should be considered as well as endoscopic findings.

• Clinical and Experimental Pediatrics
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• v.54 no.5
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• pp.212-218
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• 2011

Purpose: The diagnosis of acute pyelonephritis (APN) is often difficult, as its clinical and biological manifestations are non-specific in children. If not treated quickly and adequately, however, APN may cause irreversible renal damage, possibly leading to hypertension and chronic renal failure. We were suspecting the diagnostic value of $^{99m}Tc$-dimercaptosuccinic acid (DMSA) scan by experiences and so compared the results of DMSA scan to those of multi-detector row computed tomography (MDCT). Methods: We retrospectively selected and analyzed 81 patients who were diagnosed as APN by MDCT during evaluation of their acute abdomen in emergency room and then received DMSA scan also for the diagnostic work-up of APN after admission. We evaluated the results of imaging studies and compared the diagnostic value of each method by age groups, <2 years (n=45) and ${\geq}$2 years (n=36). Results: Among total 81 patients with MDCT-proven APN, DMSA scan was diagnostic only in 55 children (68%), while the remaining 26 children (32%) showed false negative normal findings. These 26 patients were predominantly male and most of them, 19 (73.1%) were <2 years of age. Conclusion: DMSA scan holds obvious limitation compared to MDCT in depicting acute inflammatory lesions of kidney in children with APN, especially in early childhood less than 2 years of age. MDCT showed hidden lesions of APN, those were undetectable through DMSA scan in children.

• The Korean Journal of Nuclear Medicine
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• v.29 no.3
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• pp.287-293
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• 1995

Anterior temporal lobectomy has become a widely used resective surgery in patients with medically intractable temporal lobe epilepsies. Prerequisites of this resection include the accurate localization of the epileptogenic focus and the determination that the proposed resection would not result in unacceptable postoperative memory or language deficits. The purpose of this study was to evaluate the performance of ictal SPECT compared to MRI findings for localization of epiletogenic foci in this group of patients. 11 patients who had been anterior temporal lobectomy were evaluated with ictal $^{99m}Tc$-HMPAO SPECT and MRI. MRI showed 8/11(73%) concordant lesion to the side of surgery and ictal SPECT also showed 8/11(73%) concordant hyperperfusion. In 3 cases with incorrect or nonlocalizing findings of MRI, ictal SPECT showed concordant hyperperfusion. In 2 cases confirmed by pre-resectional invasive EEG, MRI showed bilateral and contralateral lesion but ictal SPECT showed concordant hyperperfusion. 3 delayed injection of ictal SPECT showed discordant hyperperfusion. Thus, ictal SPECT was a useful method for localizing epileptogenic foci in temporal lobe epilepsis and appeared complementay to MRI.