1.Comparison of the Data of a Next-Generation Sequencing Panel from K-MASTER Project with That of Orthogonal Methods for Detecting Targetable Genetic Alterations
Yoon Ji CHOI ; Jung Yoon CHOI ; Ju Won KIM ; Ah Reum LIM ; Youngwoo LEE ; Won Jin CHANG ; Soohyeon LEE ; Jae Sook SUNG ; Hee-Joon CHUNG ; Jong Won LEE ; Eun Joo KANG ; Jung Sun KIM ; Taekyu LIM ; Hye Sook KIM ; Yu Jung KIM ; Mi Sun AHN ; Young Saing KIM ; Ji Hyun PARK ; Seungtaek LIM ; Sung Shim CHO ; Jang Ho CHO ; Sang Won SHIN ; Kyong Hwa PARK ; Yeul Hong KIM
Cancer Research and Treatment 2022;54(1):30-39
Purpose:
K-MASTER project is a Korean national precision medicine platform that screened actionable mutations by analyzing next-generation sequencing (NGS) of solid tumor patients. We compared gene analyses between NGS panel from the K-MASTER project and orthogonal methods.
Materials and Methods:
Colorectal, breast, non–small cell lung, and gastric cancer patients were included. We compared NGS results from K-MASTER projects with those of non-NGS orthogonal methods (KRAS, NRAS, and BRAF mutations in colorectal cancer [CRC]; epidermal growth factor receptor [EGFR], anaplastic lymphoma kinase [ALK] fusion, and reactive oxygen species 1 [ROS1] fusion in non–small cell lung cancer [NSCLC], and Erb-B2 receptor tyrosine kinase 2 (ERBB2) positivity in breast and gastric cancers).
Results:
In the CRC cohort (n=225), the sensitivity and specificity of NGS were 87.4% and 79.3% (KRAS); 88.9% and 98.9% (NRAS); and 77.8% and 100.0% (BRAF), respectively. In the NSCLC cohort (n=109), the sensitivity and specificity of NGS for EGFR were 86.2% and 97.5%, respectively. The concordance rate for ALK fusion was 100%, but ROS1 fusion was positive in only one of three cases that were positive in orthogonal tests. In the breast cancer cohort (n=260), ERBB2 amplification was detected in 45 by NGS. Compared with orthogonal methods that integrated immunohistochemistry and in situ hybridization, sensitivity and specificity were 53.7% and 99.4%, respectively. In the gastric cancer cohort (n=64), ERBB2 amplification was detected in six by NGS. Compared with orthogonal methods, sensitivity and specificity were 62.5% and 98.2%, respectively.
Conclusion
The results of the K-MASTER NGS panel and orthogonal methods showed a different degree of agreement for each genetic alteration, but generally showed a high agreement rate.
2.Evaluating Genetic Diversity of Agaricus bisporus Accessions through Phylogenetic Analysis Using Single-Nucleotide Polymorphism (SNP) Markers
Youn-Lee OH ; In-Geol CHOI ; Won-Sik KONG ; Kab-Yeul JANG ; Min ji OH ; Ji-Hoon IM
Mycobiology 2021;49(1):61-68
Agaricus bisporus, commonly known as the button mushroom, is widely cultivated throughout the world. To breed new strains with more desirable traits and improved adaptability, diverse germplasm, including wild accessions, is a valuable genetic resource. To better understand the genetic diversity available in A. bisporus and identify previously unknown diversity within accessions, a phylogenetic analysis of 360 Agaricus spp. accessions using single-nucleotide polymorphism genotyping was performed. Genetic relationships were compared using principal coordinate analysis (PCoA) among accessions with known origins and accessions with limited collection data. The accessions clustered into four groups based on the PCoA with regard to genetic relationships. A subset of 67 strains, which comprised a core collection where repetitive and uninformative accessions were not included, clustered into 7 groups following analysis. Two of the 170 accessions with limited collection data were identified as wild germplasm. The core collection allowed for the accurate analysis of A. bisporus genetic relationships, and accessions with an unknown pedigree were effectively grouped, allowing for origin identification, by PCoA analysis in this study.
3.SNP-Based Genetic Linkage Map and Quantitative Trait Locus Mapping Associated with the Agronomically Important Traits of Hypsizygus marmoreus
Youn-Lee OH ; In-Geol CHOI ; Kab-Yeul JANG ; Min-Seek KIM ; Min ji OH ; Ji-Hoon IM
Mycobiology 2021;49(6):589-598
White strains of Hypsizygus marmoreus are more difficult to cultivate than are brown strains; therefore, new white strain breeding strategies are required. Accordingly, we constructed the genetic map of H. marmoreus. with 1996 SNP markers on 11 linkage groups (LGs) spanning 1380.49 cM. Prior to analysis, 82 backcrossed strains (HM8 lines) were generated by mating between KMCC03106-31 and the progenies of the F1 hybrid (Hami-18 × KMCC03106-93). Using HM8, the first 23 quantitative trait loci (QTLs) of yield-related traits were detected with high limit of detection (LOD) scores (1.98–9.86). The length, thickness, and hardness of the stipe were colocated on LG 1. Especially, length of stipe and thickness of stipe were highly correlated given that the correlation coefficients were negative (−0.39, p value ≤ .01). And a typical biomodal distribution was observed for lightness of the pileus and the lightness of the pileus trait belonged to the LG 8, as did traits of earliness and mycelial growth in potato dextrose agar (PDA) medium. Therefore, results for color traits can be suggested that color is controlled by a multi-gene of one locus. The yield trait was highly negatively correlated with the traits for thickness of the stipe (−0.45, p value ≤ .01). Based on additive effects, the white strain was confirmed as recessive; however, traits of mycelial growth, lightness, and quality were inherited by backcrossed HM8 lines. This new genetic map, finely mapped QTLs, and the strong selection markers could be used in molecular breeding of H. marmoreus.
4.Preliminary Experiences of the Combined Midline-Splitting French Door Laminoplasty with Polyether Ether Ketone (PEEK) Plate for Cervical Spondylosis and OPLL.
Chang Hyun OH ; Gyu Yeul JI ; Junseok W HUR ; Won Seok CHOI ; Dong Ah SHIN ; Jang Bo LEE
Korean Journal of Spine 2015;12(2):48-54
OBJECTIVE: The purpose of this study was to evaluate the safety and efficacy of cervical midline-splitting French-door laminoplasty with a polyether ether ketone (PEEK) plate. The authors retrospectively analyzed the results of patients with cervical laminoplasty miniplate (MAXPACER(R)) without bone grafts in multilevel cervical stenosis. METHODS: Fifteen patients (13 males and 2 females, mean age 50.0 years (range 35-72)) with multilevel cervical stenosis (ossification of the posterior longitudinal ligament and cervical spondylotic myelopathy) underwent a combined surgery of midline-splitting French-door laminoplasty with or without mini plate. All 15 patients were followed for at least 12 months (mean follow-up 13.3 months) after surgery, and a retrospective review of the clinical, radiological and surgical data was conducted. RESULTS: The radiographic results showed a significant increase over the postoperative period in anterior-posterior diameter (9.4+/-2.2 cm to 16.2+/-1.1 cm), open angles in cervical lamina (46.5+/-16.0degrees to 77.2+/-13.1degrees), and sectional volume of cervical central canal (100.5+/-0.7 cm2 to 146.5+/-4.9 cm2) (p<0.001). The sagittal alignment of the cervical spine was well preserved (31.7+/-10.0degrees to 31.2+/-7.6degrees, p=0.877) during the follow-up period. The clinical results were successful, and there were no significant intraoperative complications except for screw displacement in two cases. The mini plate constructs did not fail during the 12 month follow-up period, and the decompression was maintained. CONCLUSION: Despite the small cohort and short follow-up duration, the present study demonstrated that combined cervical expansive laminoplasty using the mini plate is an effective treatment for multilevel cervical stenosis.
Cohort Studies
;
Constriction, Pathologic
;
Decompression
;
Ether*
;
Female
;
Follow-Up Studies
;
Humans
;
Intraoperative Complications
;
Longitudinal Ligaments
;
Male
;
Postoperative Period
;
Retrospective Studies
;
Spine
;
Spondylosis*
;
Transplants
5. Antimicrobial activity and synergism of Sami-Hyanglyun-Hwan with ciprofloxacin against methicillin-resistant Staphylococcus aureus
Jang-Gi CHOI ; Ok-Hwa KANG ; Dong-Yeul KWON ; Jang-Gi CHOI ; Preeti BHARAJ ; Ji-Young CHOI ; Myong-Soo CHONG ; Su-Hyun MUN ; Dong-Won SHIN
Asian Pacific Journal of Tropical Medicine 2015;8(7):538-542
Objective: To investigate the antibacterial activity of SHH extracted with either water or ethanol against methicillin-resistant Staphylococcus aureus (MRSA) and combinatory antimicrobial effect with ciprofloxacin (CIP) by time kill assay and checkerboard dilution test. Methods: The antibacterial activity determined by broth dilution method indicated that the antibacterial activity of Sami-Hyanglyun-Hwan (SHH) water extract (SHHW) and SHH ethanol extract (SHHE) ranged from 250 to 2. 000 μg/mL and 125 to 1. 000 μg/mL against MRSA, respectively. Results: In the checkerboard method, the combinations of SHHE with CIP had a partial synergistic or synergistic effect against MRSA. The time-kill curves showed that a combined SHHE and CIP treatment reduced the bacterial counts dramatically after 24 h. Conclusions: The present study demonstrates the therapeutic ability of SHHE against MRSA infections.
6.Surface Landmarks do not Correspond to Exact Levels of the Cervical Spine: References According to the Sex, Age and Height.
Chang Hyun OH ; Gyu Yeul JI ; Seung Hwan YOON ; Dongkeun HYUN ; Chun Gil CHOI ; Hyun Kyoung LIM ; A Reum JANG
Korean Journal of Spine 2014;11(3):178-182
OBJECTIVE: A general orientation along the cervical spine could be estimated by external landmarks, and it was useful, quick and less exposable to radiation, but, sometimes it gave reference confusion of target cervical level. The authors reviewed the corresponding between the neck external landmarks and cervical levels. METHODS: Totally 1,031 cervical lateral radiographs of different patients were reviewed in single university hospital. Its compositions were 534 of males and 497 females; 86 of second decades (10-19 years-old), 169 of third decades, 159 of fourth decades, 209 of fifth decades, 275 of sixth decades, and 133 of more than seventh decades (>60 years-old). Reference external landmarks (mandible, hyoid bone, thyroid cartilage, and cricothyroid membrane) with compounding factors were reviewed. RESULTS: The reference levels of cervical landmarks were C2.13 with mandible angle, C3.54 with hyoid bone, C5.12 with thyroid cartilage, and C6.01 with cricothyroid membrane. The reference levels of cervical landmarks were differently observed by sex, age, and somatometric measurement (height) accordingly mandible angle from C1 to C3, hyoid bone from disc level of C2 and C3 to C5, thyroid cartilage from disc level of C3 and C4 to C7, and cricothyroid membrane from C4 to disc level of C7 and T1. CONCLUSION: Surface landmarks only provide general reference points, but not correspond to exact levels of the cervical spine. Intraoperative fluoroscopy ensures a more precise placement to the targeted cervical level.
Female
;
Fluoroscopy
;
Humans
;
Hyoid Bone
;
Male
;
Mandible
;
Membranes
;
Neck
;
Spine*
;
Thyroid Cartilage
7.Correlation between TSH Receptor Antibody Assays and Clinical Manifestations of Graves' Orbitopathy.
Sun Young JANG ; Dong Yeob SHIN ; Eun Jig LEE ; Young Joon CHOI ; Sang Yeul LEE ; Jin Sook YOON
Yonsei Medical Journal 2013;54(4):1033-1039
PURPOSE: To investigate an association between the levels of serum thyroid-stimulating hormone (TSH)-receptor autoantibodies (TRAbs) and Graves' orbitopathy (GO) activity/severity scores, and compare the performance of three different TRAb assays in assessing the clinical manifestations of GO. MATERIALS AND METHODS: Cross-sectional study. Medical records of 155 patients diagnosed with GO between January 2008 and December 2010 were reviewed. GO activity was assessed by clinical activity score (CAS) and severity graded with the modified NOSPECS score by a single observer. Serum TRAb was measured by three different methods: 1st generation thyrotropin-binding inhibitor immunoglobulin (TBII) assay (TRAb1st); 3rd generation TBII assay (TRAb3rd); and biological quantitative assay of thyroid-stimulating immunoglobulin (TSI) using Mc4-CHO cells (Mc4-CHO TSI assay). Results were correlated with scores of activity/severity of thyroid eye disease. RESULTS: All three assays (TRAb1st, TRAb3rd, and Mc4-CHO TSI) yielded results that were significantly positively correlated with CAS (beta=0.21, 0.21, and 0.46, respectively; p<0.05) and proptosis (beta=0.38, 0.34, and 0.33, respectively; p<0.05). Mc4-CHO TSI bioassay results were significantly positively correlated with all GO severity indices (soft tissue involvement, proptosis, extraocular muscle involvement, and total eye score; beta=0.31, 0.33, 0.25, and 0.39, respectively; p<0.05). CONCLUSION: Mc4-CHO TSI bioassay was superior over the two TBIIs in assessing active inflammation and muscle restriction due to GO, whereas TBII assay would be sufficient for evaluation of patients with proptosis.
Adult
;
Animals
;
Autoantibodies/*blood
;
CHO Cells
;
Cricetulus
;
Cross-Sectional Studies
;
Female
;
Graves Ophthalmopathy/blood/*etiology/*immunology
;
Humans
;
Immunoassay/*methods
;
Male
;
Middle Aged
;
Receptors, Thyrotropin/blood/*immunology
8.Transcatheter Coil Embolization of an Arc of Buhler Aneurysm.
Su Jin JEONG ; Nam Yeul LIM ; Nam Kyu JANG ; Soo Jin Nah CHOI ; Jae Kyu KIM ; Yong Yeon JEONG ; Heoung Keun KANG
Korean Journal of Radiology 2008;9(Suppl):S77-S80
We report the findings of a patient with an asymptomatic Arc of Buhler (AOB) aneurysm, which was successfully treated by transcatheter coil embolization. An abdominal CT and angiography revealed an intact pancreaticoduodenal artery arcade (PDAA) and an anomalous communication between the SMA and celiac axis, termed an AOB. An aneurysm was observed at the origin of the AOB and treated with a transcatheter embolization using coils. A follow-up CT imaging confirmed the total occlusion of the aneurysm with a patent PDAA. The successful results of this treatment suggest that the endovascular therapy of an AOB aneurysm with a celiac axis occlusion and an intact PDAA is feasible and safe.
Adult
;
Aneurysm/radiography/*therapy
;
Angiography
;
Celiac Artery/*abnormalities
;
*Embolization, Therapeutic
;
Humans
;
Male
;
Mesenteric Artery, Superior/*abnormalities
;
Tomography, X-Ray Computed
9.Distributions of HLA Microsatellite Markers and the Linkage Disequilibria between HLA and Microsatellites in Koreans.
Jung Pil JANG ; Eun Jeong CHOI ; Ho Yeul YOON ; Hee Baeg CHOI ; Hee Je KIM ; Byung Sik CHO ; Woo Sung MIN ; Jong Wook LEE ; Chun Choo KIM ; Tai Gyu KIM
Immune Network 2007;7(3):149-157
10.Surgical approaches for gynecologic malignancies causing peritoneal dissemination.
Sang Hyun LEE ; Jang Yeul CHOI ; Jung In SONG ; Yong Won CHA ; Kwang Beum LEE ; Jong Min LEE ; Sung Jun YOON ; Suk Young KIM ; Soon Pyo LEE ; Ji Sung LEE ; Chan Yong PARK
Korean Journal of Obstetrics and Gynecology 2005;48(3):651-658
OBJECTIVE: The aims of this study were to compare the efficacy and morbidity of optimal debulking operation with those of suboptimal operation for patients with advanced gynecologic malignancies and to establish the precluding factors for performing the optimal cytoreductive surgery. METHODS: From January 1998 to December 2003, debulking operation for advanced gynecologic malignancy was performed in thirty-nine patients with ovarian cancer (32), tubal cancer (4), and primary peritoneal carcinoma (3) at the department of obstetrics and gynecology, Ghil Medical Center. Of them, 38 patients had FIGO Stage IIIC disease and only one patient had FIGO Stage IV disease. Most informations were obtained by hospital records and were analyzed retrospectively. RESULTS: The mean follow-up was 23 months (range, 1-62 months). The optimal debulking operation could be performed in 25 patients (64.1%). In multivariate analysis, the largest diameter of residual tumor was the most important prognostic factor. Two-year overall survival rate of optimally debulked patients was 86.5% and that of suboptimally debulked patients was 41.3% (p=0.015). Two-year disease free survival rates were 75.9% and 7.1%, respectively (p=0.0003). Complication rates associated with surgery were 40% in optimally debulked patients and 35.7% in suboptimally debulked patients (p=0.083). Major causes of suboptimal surgery were old age (>69 yrs), poor medical condition (cardiac problem, intraoperative unstable vital sign, bronchiectasis), no submission of permission, and involvement of the base of mesentery and small bowel. CONCLUSION: Optimal debulking operation is possible if there were no significant clinical problem and involvement of base of mesentery and small bowel. It appears acceptable surgical morbidity and better prognosis. Therefore, the surgeon should use every technique aimed at removing the tumor as much as possible.
Disease-Free Survival
;
Follow-Up Studies
;
Gynecology
;
Hospital Records
;
Humans
;
Mesentery
;
Multivariate Analysis
;
Neoplasm, Residual
;
Obstetrics
;
Ovarian Neoplasms
;
Prognosis
;
Retrospective Studies
;
Survival Rate
;
Vital Signs

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