• Tuberculosis and Respiratory Diseases
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• v.45 no.2
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• pp.333-340
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• 1998

Background: Lung cancer is the leading cause of cancer over the world. P53 alteration is by far the most common genetic defect in lung cancer. The mutation of p53 protein involves the loss of inhibitory function of p53 related tumor suppressor gene and resultant oncogenesis. The analysis of p53 alterations consists of immunohistochemical stain, PCR based assay, or serologic ELISA (enzyme-linked immunosorbent assay). Methods : Serum levels of p53 mutant protein were measured in 69 cases of lung cancer (adenocarcinoma n=29, epidermoid n=16, small cell n=13, large cell n=1, undifferentiated n=1, undetermined n=9) and 42 controls of respiratory disorders using ELISA. Immunohistochemical stain in tissue was performed using monoclonal antibody of p53 in lung cancer subjects. Results: Both serum p53s in nonsmall cell cancer ($0.28{\pm}0.44ng/ml$) and in small cell cancer ($0.20{\pm}0.14ng/ml$) were not different from controls ($0.34{\pm}0.20ng/ml$). Also there was no significant difference in serum p53 according to tumor stages. P53 immunohistochemical stain showed 50% positivity overall in lung cancer. There were no close correlation between serologic level and positivity of immunohistochemical stain. Conclusion: The serologic determination of p53 mutant protein is thought to have no diagnostic role in lung cancer. Immunohistochemical stain in lung cancer specimen shows 50% positivity.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.1
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• pp.24-30
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• 2017

Gorham-Stout disease is a rare disorder characterized by lymphovascular proliferation and destruction of osseous matrix. The etiology of this condition remains poorly understood. Chylothorax as a consequence of lymphatic leakage in thoracic cage may cause a severe life-threatening complication, accompanying respiratory difficulty. Currently, there is no standard management for this extremely rare condition. Here we describe a patient affected by Gorham-Stout disease successfully managed by the combined treatment of mTOR inhibitor and beta-blocker. A previously healthy 11-year-old female developed dyspnea and chest pain with a massive pleural effusion. The ligation of right thoracic duct and bilateral pleurodesis temporarily decreased her pleural effusion, which was aggravated repetitively and required frequent admission and tube thoracotomies. Along with bilateral pleural adhesiolysis with thoracotomy, the combined treatment of oral beta-blocker and mTOR inhibitor was commenced. After 1 month of oral medication, her pleural effusion was not increased and she was free of respiratory difficulty on room air without chest tubes. Over eleven months of treatment, no serious adverse reaction was noted and her condition has been stable with no further admission required.

• Korean Journal of Head & Neck Oncology
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• v.27 no.2
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• pp.190-197
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• 2011

Background and Objective : Radiation resistance(RR) is one of main determinants of treatment outcome in oral squamous cell carcinoma(OSCC), but accurate prediction of RR is difficult. We aim to establish RR OSCC cell lines and identify genes related with RR by a measurement of altered gene expression after inducing RR. Material and Methods : OSCC cell lines, SCC15, SCC25 and QLL1, were treated with 2Gy radiation per session, and parts of them were alive in finally accumulated dosage of 60Gy through 30 times repetition of radiotherapy for inducing RR cell lines. We compared results of cDNA array and proteomics in non-radiated cell lines and RR cell lines to detect changes of gene expression. Western blot was used for the validation of results. Results : cDNA array revealed 265 commonly up-regulated genes and 268 commonly down-regulated genes in 3 RR cell lines comparing their non-radiated counterpart. Among them, 30 cancer related genes were obtained. Proteomics showed 51 commonly altered protein expressions in 3 RR cell lines and 18 cancer related proteins were obtained. Among the detected genes, we found NM23-H1 and PA2G4 were over-expressed in both cDNA array and proteomics. Western blot showed increased expression of NME1 in RR cell lines but not in PA2G4. Conclusion: We concluded that NM23-H1 may be a candidate of RR related gene and over-expression of NM23-H1 could be a biomarker to predict RR in OSCC.

• Journal of Life Science
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• v.17 no.1 s.81
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• pp.110-115
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• 2007

It has been previously described that transcription factor early growth response gene product 1 (EGR-1) functions as a tumor suppressor gene. This study was conducted to demonstrate that EGR-1 induction by phytochemical apigenin and its derivative isovitexin can mediate the growth suppression of the intestinal epithelial tumor cells. Apigenin and isovitexin induced EGR-1 gene expression both in the dose and time-dependent manners. Moreover the induction was relatively late around 9-12 hr after treatment of HCT-116 cells, while several anti-inflammatory agent such as NSAIDS and catechins elicit the ECR-1 gene expression at much earlier time about 1-3 hr after treatment. In terms of signal transduction, ERK1/2 was critical for apigenin-induced EGR-1 gene expression and its promoter activation. When EGR-1 gene expression was blocked with EGR-1 small interference RNA, the cytotoxicity of apigenin in the human epithelial cells was attenuated, suggesting the involvement of EGR-1 in the anti-tumoric activity of apigenin. To link the EGR-1 induction to EGR-1-regulated gene products in colon cancer, NSAID-Activated Gene 1 (NAG-1) was demonstrated to be elevated by apigenin and isovitexin at 24-48 hr after treatment. Taken together, apigenin-activated ERK1/2 mediated EGR-1 gene induction, which was associated with suppression of the cellular viability by apigenin compound.

• Journal of Genetic Medicine
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• v.7 no.1
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• pp.82-86
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• 2010

Jumping translocations (JT) are chromosomal rearrangements involving one donor chromosome and several recipient chromosomes. While JTs are frequently observed as acquired chromosomal abnormalities in hematologic malignancies, constitutional JTs are only rarely reported. We report two cases of constitutional JT in chorionic villi derived from the products of conception. The karyotype of the first case was 46,XY,add(18)(p11.1)[61]/45,XY,der(18;21)(q10;q10)[32]/46,XY,-18,+mar[16]/46,XY,i(18)(q10)[9]/45,XY,der(15;18)(q10;q10)[6]/46,XY,+1,dic(1;18)(p22;p11.1)[2]/45,XY,der(13;18)(q10;q10)[1]/46,XY[32]. The donor was a chromosome 18. The recipient chromosomes were chromosomes 1, 13, 15, 18 and 21. In the second case, the karyotype was 46,XY,der(22)t(9;22)(q12;q13)[22]/46,XY,der(22)t(1;22)(q21;q13)[13]/46,XY,add(22)(q13)[5]/46 XY[23]. The donor was a chromosome 22 and recipients were chromosomes 1 and 9. Both cases were de novo. The breakpoints of chromosomes were mostly in centromeric regions, pericentromeric regions, or telomeric regions. Normal cell lines were observed in both cases. This report supports the prior findings that the unstable nature of JT, resulting in chromosomal imbalance, most likely contributed to these early miscarriages.

• Journal of the Korean Society of Radiology
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• v.81 no.3
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• pp.467-487
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• 2020

Anatomical imaging is the basis of the diagnosis and treatment response assessment of brain tumors. Among the existing imaging techniques currently available in clinical practice, diffusion-weighted imaging and perfusion imaging provide additional information. Recently, with the increasing importance of evaluation of the genomic variation and heterogeneity of tumors, clinical application of imaging techniques using radiomics and deep learning is expected. In this review, we will describe recommendations for magnetic resonance imaging protocols focusing on anatomical images that are still important in the clinical application of brain tumor imaging, and the basic principles of diffusion-weighted imaging and perfusion imaging among the advanced imaging techniques, as well as their pathophysiological background and clinical application. Finally, we will review the future perspectives of radiomics and deep learning applications in brain tumor imaging, which have been studied to a great extent due to the development of computer technology.

• Korean Journal of Head & Neck Oncology
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• v.9 no.1
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• pp.25-32
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• 1993

The nodular hyperplasia of the thyroid is a common thyriod disease. Nodular hyperplasia does rarely progress to thyroid cancer. The differentiation of a nodular hyperplasia from a neoplasm may be simple or difficult, both clinically and anatomically. The papillary carcinoma of the thyroid is the most common type of thyroid malignancies. There were few studies about cytogenetic observation in thyroid cancer. But only one case of banding observation in nodular hyperplasia have been reported. In order to compare the chromosomal changes in the thyroid cancer and the noncancerous thyroid disease, we performed cytogenetic analysis in two papillary carcinoma and two nodular hyperplasia after cell culture. The chromosomal pattern of the nodular hyperplasia found was very heterogenous but no clonal abnormaly in both cases was observed. Case I : A modal chromosomal number was in 42-46 range. Chromosome 8, 19, 21. 22 were commonly lost. 9 structural anomalities among 51 analysed cells were observed but they were not clonal. Case II: A modal chromosomal number was 43. Chromosome 17 and 19 were commonly lossed. Common cytogenetic characters of this two nodular hyperplasia are hypodiploidity and very heterogenous chromosomal pattern. The result about the papillary carcinoma are as follow. In one case some numerical and structural chromosomal changes were observed. But they were not clonal abnormality. In another case the chromosomal pattern found was very heterogenous with a clonal abnormality of del(11)(q23). The modal number was 46. The del(11)(q23) a chromosomal change in papillary carcinoma of the thyroid have previously been reported(Eva Olah et al. 1989). We suggest that 11q deletion may be important role to pathogenesis of papillary carcinoma of the thyroid. According to this results, we could not find out specific differences about chromosomal changes and any relationship between the papillary carcinoma and the nodular hyperplasia.

• Tuberculosis and Respiratory Diseases
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• v.51 no.2
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• pp.108-121
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• 2001

Background : The $p16^{INK4a}$ (p16) twnor suppressor gene is frequently inactivated in hwnan non-small cell lung cancers (NSCLCs), predominantly through homozygous deletion or in association with aberrant promotor hypermethylation. Death-associated protein kinase (DAPK) gene influences interferon $\gamma$-induced apoptotic cell death and has important role in metastasis of lung cancer in animal model. Hypermethylation of promoter region of DAP kinase gene may suppress the expression of this gene. Methods : This study was performed to investigate the aberrant methylation of p16 or DAP kinase in 35 resected primary NSCLCs by methylation-specific PCR (MSP), and demonstrated frequency, diagnostic value and clinical implication of aberrant methylation of two genes. Results : Thirty-two cases were male patients, and 3 cases were female patients with an average age was 57. $8{\pm}10.5$ years. The histologic types of lung cancer were 22 of squamous cell carcinoma, 12 of adenocarcinoma, 1 of large cell carcinoma. Pathologic stages were 11 cases of stage I (1 IA, 10 IB), 13 cases of stage II (1 IIA, 12 IIB), and 11 cases of stage III (9 IIIA, 2 IIIB). Regarding for the cancer tissue, p16 aberrant methylation was noted in 13 case of 33 cases (39.4%), DAP kinase in 21 cases of 35 cases (60%). Age over 55 year was associated with p16 aberrant methylation significantly (p<0.05). Methylation status of two genes was not different by smoking history, histologic type, size of tumor, lymph node metastasis and disease progression of lung cancer. There was no correlation between p16 and DAP kinase hypermethylation. Conclusion: This investigation demonstrates that aberrant methylation of p16 tumor suppressor gene or DAP kinase showed relatively high frequency (74.3%) in NSCLCs, and that these genes could be a biologic marker for early detection of lung cancer.

• Journal of the korean academy of Pediatric Dentistry
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• v.32 no.1
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• pp.75-88
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• 2005

Ameloblastoma is the most commonly occurring odontogenic tumor in oral cavity. Although most are benign epithelial neoplasm, they are generally considered to be locally aggressive and destructive, exhibiting a high rate of recurrence. The biological behavior of this neoplasm is a slowly growing, locally invasive tumor without metastasis, therefore malignant neoplasm, changed its histological appearance to carcinoma or showed distant metastasis, is only defined clinically. In this study, we identified the differentially expressed genes(DEGs) in stages under benign or malignant ameloblastoma compared with normal patient using ordered differential display(ODD) reverse transcription(RT)-PCR and $GeneFishing^{TM}$ technology. ODD RT-PCR is rather effective when the investigation of samples containing very small amounts of total RNA must be accomplished. ODD RT-PCR used the means of amplification with anchored T-primer and adaptor specific primer. bearing definite two bases at their 3' ends and so this method could display differential 3'-expressed sequence taqs(ESTs) patterns without using full-length cDNAs. Compared with standard differential display, ODD RT-PCR is more simple and have enough sensitivity to search for molecular markers by comparing gene expression profiles, However, this method required much effort and skill to perform. $GeneFishing^{TM}$ modified from DD-PCR is an improved method for detecting differentially expressed genes in two or more related samples. This two step RT-PCR method uses a constant reverse primer(anchor ACP-T) to prime the RT reaction and arbitrary primer pairs(annealing control primers, ACPs) during PCR. Because of high annealing specificity of ACPs than ODD RT-PCR, the application of $GeneFishing^{TM}$ to DEG discovery generates reproducible, authentic, and long(100bp to 2kb) PCR products that are detectable on agarose gels. Consequently, various DEGs observed differential expression levels on agarose gels were isolated from normal, benign, and malignant tissues using these methods. The expression patterns of the some isolated DEGs through ODD RT-PCR and $GeneFishing^{TM}$ were confirmed by Northern blot analysis and RT-PCR. The results showed that these identified DEGs were implicated in ameloblastoma neoplasm processes. Therefore, the identified DEGs will be further studied in order to be applied in candidate selection for marker as an early diagnosis during ameloblastoma neoplasm processes.

• Radiation Oncology Journal
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• v.19 no.2
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• pp.107-112
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• 2001

Purpose : To determine the prognostic significance of p53 mutations in advanced supraglottic cancer patients. Material and Methods : Twenty-six patients with pertinent tissue materials among 60 patients diagnosed as advanced supraglottic cancer in Kyung Hee university hospital and received total or partial laryngectomy followed by radiation therapy were enrolled. Immunohistochemical staining using DO7 monoclonal antibody was peformed. Tumor specimens were analyzed for p53 mutations in exons 5 through 8 by using PCR-SSCP analysis followed by DNA sequencing of all variants. Results : p53 mutations were present in 8 cases among 26 patiets. Mutations within exon 5 were 3 cases, exon 6 were 4 cases, and exon 7 was 1 case. Mean survival time was 70.2 months in patients without mutations, 61.3 months with mutations but there was no statistically significant differences (p=0.596). Mutations were $25\%$ in stage III and $36\%$ in stage IV but there was no statistically significant differences (p=0.563). Mutations were $25\%$ in lymph node negative group and $42\%$ in lymph node positive group but there was no statistically significant differences (p=0.437). Conclusion : The presence of p53 mutation detected by PCR-SSCP is not associated with survival, stage and lymph node status.