Spinal Teratoma Concomitant with Intracranial Lipid Droplet Dissemination

Hyung Sug Oh,김태완,박관호 대한척추신경외과학회 2015 Neurospine Vol.12 No.1

A teratoma is a neoplasm that contains tissues originating from three germ cell layers at ectopic sites. The embryology of teratomas remains unclear. Teratomas are usually composed of cystic and solid components, and they are usually associated with syringomyelia. Cystic lesions of teratomas may rupture in a spontaneous, iatrogenic, or traumatic manner. Lipid droplets in the ventricles and subarachnoid space are rare. We managed a case of a spinal teratoma in the lumbar region in a 67-year-old man. He complained of nocturia, frequent urination, and difficulty in walking for 2 months. Radiographic imaging revealed a lumbar spinal intradural mass. Intracranial lipid droplets dissemination was also existed. The patient underwent surgery, and a diagnosis of mature teratoma was confirmed histopathologically. During the operation, the cystic portion of the intradural mass ruptured. During the hospital stay, the patient’s mental status declined. On radiological examination, slightly enlarged ventricle size was observed. Dissemination of lipid droplets within ventricles occurs because of spontaneous, iatrogenic, or traumatic rupture. Additional lipid droplet dissemination to the intracranial space associated with neurologic deterioration after a spinal teratoma surgery should be considered when iatrogenic rupture of the cyst portion occurs.

Case Report : A Case Report of Familial Renal Hypouricemia Confirmed by Genotyping of SLC22A12, and a Literature Review

( Hyung Oh Kim ),( Chun Gyoo Ihm ),( Kyung Hwan Jeong ),( Hyun Joon Kang ),( Jae Min Kim ),( Hyung Suk Lim ),( Jin Sug Kim ),( Tae Won Lee ) 대한전해질학회 2015 Electrolytes & Blood Pressure Vol.13 No.2

A 24-year-old male visited our hospital because of pain in both flanks. His biochemistry profile showed an elevated serum creatinine level and low serum uric acid level. History taking revealed that he had undertaken exercise prior to the acute kidney injury (AKI) event, and he stated that family members had a history of urolithiasis. His renal profile improved after hydration and supportive care during hospitalization. Although the patient was subsequently admitted again due to AKI, his status recovered with similar treatment. Since the diagnosis of the patient was familial renal hypouricemia with exercise-induced AKI, we performed genotyping of SLC22A12, which encodes human urate transporter 1. The diagnosis was confirmed by the detection of a homozygous mutation of W258X. We herein, report a case of familial renal hypouricemia confirmed by genotyping of SLC22A12, and review the relevant literature.

Frameshift mutations of MUC15 gene in gastric and its regional heterogeneity in gastric and colorectal cancers.

Oh, Hye Rim,An, Chang Hyeok,Yoo, Nam Jin,Lee, Sug Hyung Science Press ; W.B. Saunders 2015 PATHOLOGY ONCOLOGY RESEARCH Vol.21 No.3

<P>Mucins are important in tumorigenesis and expressional alterations of mucins are common in human cancers. A membrane-bound mucin MUC15 and secreted mucins MUC4 and MUC7 are known to involve in tumorigenesis, but their mutation status in cancers remains unknown. Aim of this study was to explore whether MUC4, MUC7 and MUC15 genes are mutated and expressionally altered in gastric (GC) and colorectal cancers (CRC). In a public database, we found that MUC15 and MUC7 genes had mononucleotide repeats in the coding sequences that might be mutation targets in the cancers with microsatellite instability (MSI). We analyzed the mutations in 90 GC and 141 CRC (high MSI (MSI-H) or stable MSI/low MSI (MSS/MSI-L)) by single-strand conformation polymorphism analysis and DNA sequencing. In the present study, we found MUC15 frameshift mutations (14.7% of GC and 15.2% of CRC with MSI-H), MUC 7 frameshift mutations (2.9% of GC with MSI-H) and MUC4 frameshift mutations (8.8% of GC and 3.8% of CRC with MSI-H). These mutations were not found in in MSS/MSI-L (0/118). Additionally, we analyzed intratumoral heterogeneity (ITH) of MUC15 mutation in 16 CRC and found that seven CRC (43.8%) harbored regional ITH of MUC15. We also analyzed MUC15 expression in GC and CRC by immunohistochemistry. Negative MUC15 expression was identified in 15-41% of the GC and CRC irrespective of MSI status. Of note, the negative expression was more common in those with MUC15 mutations. We identified alterations of MUC genes at various levels (frameshift mutations, genetic ITH and expression loss), which together might play a role in tumorigenesis of GC and CRC with MSI-H. Our data suggest that mutation analysis in multiple regions is needed for a better evaluation of mutation status in CRC with MSI-H.</P>

Mutational analysis of JAK1 exon 10 and 13 in common solid cancers

Oh, Ji Eun,Yoon, Hyung Gyu,Woo, In Sook,Yoo, Nam Jin,Lee, Sug Hyung Elsevier 2009 Pathology Vol.41 No.5

Frameshift mutations of TAF1C gene, a core component for transcription by RNA polymerase I, and its regional heterogeneity in gastric and colorectal cancers.

Oh, Hye Rim,An, Chang Hyeok,Yoo, Nam Jin,Lee, Sug Hyung Modern Medicine, etc.] 2015 Pathology Vol.47 No.2

<P>Initiation of transcription for ribosomal RNA (rRNA) by RNA polymerase I requires TATA-binding protein (TBP) and TBP-associated factors (TAF1A, TAF1B and TAF1C). p53 tumour suppressor inhibits rRNA transcription by blocking TAF1C-UBF interaction, but alterations of TAF1C itself in tumorigenesis remain unknown. The aim of this study was to explore whether TAF1C gene was mutated in gastric (GC) and colorectal cancers (CRC).In a public database, we found that TAF1C gene had a mononucleotide repeat (C8) in the coding sequences that might be a mutation target in the cancers with microsatellite instability (MSI). We analysed 79 GC and 124 CRC by single-strand conformation polymorphism and DNA sequencing analyses. In this study, we found TAF1C frameshift mutations (8.8% of GC and 10.1% of CRC with MSI-H), which were not found in stable MSI/low MSI (MSS/MSI-L) (0/90). In addition, we analysed intratumoural heterogeneity (ITH) of TAF1C frameshift mutations in 16 CRC and found that three CRC (18.8%) harboured regional ITH of the TAF1C frameshift mutations. Our results indicate that TAF1C gene harboured not only somatic frameshift mutations but also the mutational ITH, which together might play a role in tumourigenesis of GC and CRC. Our data also suggest that multi-regional mutation analysis is needed for a better evaluation of the mutation status in CRC.</P>

Detection of Low-Level <i>KRAS</i> Mutations Using PNA-Mediated Asymmetric PCR Clamping and Melting Curve Analysis with Unlabeled Probes

Oh, Ji Eun,Lim, Hee Sun,An, Chang Hyeok,Jeong, Eun Goo,Han, Ji Youn,Lee, Sug Hyung,Yoo, Nam Jin Elsevier 2010 The Journal of Molecular Diagnostics Vol.12 No.4

<P>Detection of somatic mutations in clinical cancer specimens is often hampered by excess wild-type DNA. The aim of this study was to develop a simple and economical protocol without using fluorescent probes to detect low-level mutations. In this study, we combined peptide nucleic acid (PNA)-clamping PCR with asymmetric primers and a melting curve analysis using an unlabeled detection probe. PNA-clamping PCR, which suppressed amplification of the wild-type allele, was more sensitive for <I>KRAS</I> codon 12 mutation detection than nonclamping PCR in 5 different mutant cell lines. Three detection probes were tested (a perfectly matched antisense, a mismatched antisense, and a mismatched sense), and the mismatched sense detection probe showed the highest sensitivity (0.1% mutant detection) under clamping conditions. With this probe, we were able to detect not only the perfectly matched <I>KRAS</I> mutation, but also 4 other mismatched mutations of <I>KRAS</I>. We then applied this protocol to 10 human colon cancer tissues with <I>KRAS</I> codon 12 mutations, successfully detecting the mutations in all of them. Our data indicate that the combination of perfectly matched antisense PNA and a mismatched sense detection probe can detect <I>KRAS</I> mutations with a high sensitivity in both cell lines and human tissues. Moreover, this study might prove an easily applicable protocol for the detection of low-level mutations in other cancer genes.</P>

Detection of low‐level <i>EGFR</i> T790M mutation in lung cancer tissues

OH, JI EUN,AN, CHANG HYEOK,YOO, NAM JIN,LEE, SUG HYUNG Blackwell Publishing Ltd 2011 APMIS Vol.119 No.7

<P>Oh JE, An CH, Yoo NJ, Lee SH. Detection of low‐level <I>EGFR</I> T790M mutation in lung cancer tissues. APMIS 2011; 119: 403–11.</P><P>Epidermal growth factor receptor (<I>EGFR</I>) gene mutation status is critical to predicting responsiveness to EGFR tyrosine kinase inhibitor (TKI) therapies in non‐small cell lung cancer (NSCLC) patients. However, a vast majority of the patients experience recurrence of the cancers by a secondary mutation of <I>EGFR</I> (T790M). Earlier studies suggested evidence that subclones bearing <I>EGFR</I> T790M mutation pre‐exist in NSCLCs even prior to the therapies. However, to date, the status of T790M mutation in primary NSCLC is largely known. In this study, we developed an assay using peptide nucleic acid (PNA)‐clamping PCR for detection of low‐level <I>EGFR</I> T790M mutation. We found that the assay showed the highest sensitivity (0.01% mutation detection) in the clamping condition. We analyzed 147 NSCLC tissues [70 adenocarcinomas (AD), 62 squamous cell carcinomas (SQ), 12 large cell carcinomas (LC), and three adenosquamous carcinomas] that had not been exposed to the TKI therapies, and found 12 (8.2%; 12/147) <I>EGFR</I> T790M mutation in eight AD (11.4%), three SQ (4.8%), and one LC (8.3%) by the PNA‐clamping PCR. However, this mutation was not detected by conventional DNA sequencing. Our data indicate that <I>EGFR</I> T790M exists in pretreatment NSCLC at low levels irrespective of histologic types. This study provides a basis for developing an applicable protocol for detecting low‐level <I>EGFR</I> T790M mutation in primary NSCLC, which might contribute to predicting recurrence of the tumor in response to the TKI therapies.</P>

Poster Session:PS 0545 ; Nephrology : A Case Report of Capd Peritonitis with the Pathogen of O. Anthropi

( Hyung Oh Kim ),( Chun Gyoo Ihm ),( Tae Won Lee ),( Kyung Hwan Jeong ),( Seul Ki Kim ),( Ji Yun Park ),( Jin Sug Kim ) 대한내과학회 2014 대한내과학회 추계학술대회 Vol.2014 No.1

Background: We report a rare case of CAPD peritonitis caused by Ochrobacterium anthropi. Introductions: Among the continuous ambulatory peritoneal dialysis(CAPD) patients, peritonitis is one of the most commonly taken complications, and also the general cause of dialytic modality exchange to hemodialysis. Usual pathogens of CAPD peritonitis may be bacteria, fungi, mycobacteria. Coagulase negative staphylococci, S. aureus, campylobacter, pseudomonas are common reported pathogens among the bacteria, of CAPD peritonitis cases, meanwhile candida is among fungi. Ochrobacterium anthropi is one species of Brucellaceae, which is rare pathogen of human disease. Case (Methods and results): 73 years old female, who was on CAPD due to diabetic end stage renal disease visited Kyung-Hee University hospital with intermittent abdominal pain. Body fi uid analysis showed increased white blood cell(WBC) count of 26,750/mm3 with her peritoneal fi uid. Culture study with peritoneal fi uid suggested O. anthropi, and DNA sequencing with PCR was consistent with O. anthropi. Intraperitoneal ceftazidime and cefazolin were administrated as empirical antibiotics. Ceftazidime resistance was noted with the result of antibiotics sensitivity test at 7th day of hospitalization, and antibiotics were changed into intraperitoneal gentamicin, which showed sensitivity to the pathogen. CAPD catheter removal and antibiotics re-exchange into imipenem and cefazolin, which were other sensitive antibiotics by the sensitivity test, were done since clinical manifestation and peritoneal fi uid WBC count was repeatedly improved and aggravated. The patient discharged with improved lab test results and resolving clinical symptoms afterward. Conclusions: We presentators report rare case of CAPD peritonitis with pathogen of O. anthropi. The pathogen of the case confi rmed by classical microbiologic, and molecular biologic Methods: The patient was unable to treat only with antibiotics, thus CAPD catheter, which might be act as colonizing source, was removed, and the disease resolved.

Initial On-Orbit Modulation Transfer Function Performance Analysis for Geostationary Ocean Color Imager

Oh, Eun-Song,Kim, Sug-Whan,Cho, Seong-Ick,Ryu, Joo-Hyung,Ahn, Yu-Hwan 한국우주과학회 2012 Journal of Astronomy and Space Sciences Vol.29 No.2

The world’s first geostationary ocean color imager (GOCI) is a three-mirror anastigmat optical system 140 mm in diameter. Designed for 500 m ground sampling distance, this paper deals with on-orbit modulation transfer function (MTF)measurement and analysis for GOCI. First, the knife-edge and point source methods were applied to the 8th band (865 nm) image measured April 5th, 2011. The target details used are the coastlines of the Korean peninsula and of Japan, and an island 400 meters in diameter. The resulting MTFs are 0.35 and 0.34 for the Korean East Coastline and Japanese West Coastline edge targets, respectively, and 0.38 for the island target. The daily and seasonal MTF variations at the Nyquist frequency were also checked, and the result is 0.32 ± 0.04 on average. From these results, we confirm that the GOCI on-orbit MTF performance satisfies the design requirements of 0.32 for 865 nm wavelength.

Mutational Analysis of JAK1 Exons 10 and 13 in Non-small Cell Lung Cancers

Oh, Ji Eun,Yoon, Hyung Kyu,Woo, In Sook,Kim, Seung Joon,Yoo, Nam Jin,Lee, Sug Hyung 대한폐암연구회 2008 Journal of Lung Cancer Vol.7 No.2

Purpose: JAK kinases play important roles not only in normal cellular processes, but they are also important in tumor development. A recent study identified two somatic mutations of JAK1 in leukemia cells that were detected in exon 10 (p.T478S) and exon 13 (p.V623A). The aim of this study was to see whether the JAK1 mutations in these exons occur in non-small cell lung cancers (NSCLC). Materials and Methods: We analyzed the exons 10 and 13 of JAK1 for detecting somatic mutations in NSCLC by performing polymerase chain reaction (PCR) and single-strand conformation polymorphism (SSCP) assay. Results: The SSCP analysis revealed no evidence of somatic mutation in the DNA sequences of JAK1 exon 10 and exon 13 in the 47 NSCLCs. Conclusion: The data presented here indicate that the JAK1 exons 10 and 13 may not be somatically mutated in human NSCLCs, and this suggests that the JAK1 mutation in exons 10 and 13 may not play an important role in the tumorigenesis of NSCLCs.