• 제목/요약/키워드: Molecular Diagnosis

검색결과 885건 처리시간 0.024초

전이성 골종양에서 $^{18}F$ FDG PET/CT를 이용한 원발성 악성 질환의 진단 (Diagnosis of Primary Malignant Lesion Using $^{18}F$ FDG PET/CT in Metastatic Bone Tumor)

  • 윤회수
    • 대한골관절종양학회지
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    • 제14권1호
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    • pp.44-50
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    • 2008
  • 목적: 전이성 골종양에서 $^{18}F$ FDG (fluorodeoxyglucose) PET (positron emission tomography)/CT를 이용한 원발성 악성 종양의 진단적 유용성에 대해 보고하고자 한다. 대상 및 방법: 2003년 12월부터 2007년 12월까지 $^{18}F$ FDG PET/CT를 시행받았던 5,452명을 대상으로 후향적 연구를 시행하였다. 이들중 악성 종양의 과거력이 없으며 근골격계 동통을 호소하며 단순 방사선 검사에서 경계가 불분명한 골 파괴를 보이는 환자들에 대해 $^{18}F$ FDG PET/CT를 시행하였던 환자를 대상으로 하였으며 이들중 검사 결과에서 명백히 양성(definitively positive)으로 판정된 예만을 대상에 포함시켰다. 해당기간 중 18F FDG PET/CT를 시행한 총 5,452례중 180례(3.3%)가 기준에 해당되었으며 남자 96례, 여자 84례였다. 연령 분포는 22~90세였으며 평균 연령은 59.1세였다. 이들에 대해 원발성 악성 종양의 진단율, 나이 성별에 따른 원발성 악성 종양의 발생 및 전이성 골종양의 발생 위치에 대해 분석하였다. 결과: 원발 병소를 진단한 경우는 152례(84.4%)였으며 진단된 원발성 악성 종양은 폐암이 51례(28.3%), 유방암이 36례(18.9%), 소화기계암이 30례(16.7%)의 빈도를 보였으며 원발성 악성 종양에 의한 가장 흔한 해부학적 골전이 위치는 척추였다. 결론: $^{18}F$ FDG PET/CT는 원발성 악성 종양의 과거력이 없는 전이성 골종양 환자에서 원발 병소를 검출할 수 있는 효과적인 방법으로 생각된다.

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미국 FDA 허가사례를 통해 본 결핵균 및 비결핵 항산균 체외진단용 시약의 성능평가 (Performance Evaluation of In Vitro Diagnostic Reagents for Mycobacterium tuberculosis and Non-tuberculous Mycobacteria by FDA Approval)

  • 김연;박선영;김정호;장연희;하선목;최연임;이혜영
    • 대한임상검사과학회지
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    • 제50권1호
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    • pp.20-28
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    • 2018
  • 결핵(TB)은 Mycobacterium tuberculosis (MTB) 복합체의 구성원에 의한 세균 감염 질병이다. 결핵은 전 세계 인구의 1/3이 감염된 것으로 알려져 있으며, 한국에서는 매년 약 4만 명의 새로운 결핵환자가 발생한다. 또한, 비결핵 항상균 감염이 증가하고 있는 추세이다. 전통적인 결핵 및 비결핵 항상균 진단방법은 세균 배양으로 3~4주 이상이 소요된다. 따라서, 신속하고 정확한 결핵균(TB) 및 비결핵 항상균(NTM) 진단법의 필요성이 요구되고 있다. 결핵균 및 비결핵 항상균을 구분하기 위하여, 전 세계적으로 다양한 진단 방법이 개발되고 있다. 특히, 결핵균과 비결핵 항상균을 신속하고 정확한 동정의 요구가 증가함에 따라, 정확하고 신속하게 진단하기 위한 체외 진단 방법이 개발 되고 있다. 그러나 현재 결핵과 비결핵 항상균에 대한 체외 진단 시약의 성능 평가는 부족한 실정이다. 최근 식약청은 결핵균 및 비결핵 항상균 체외 진단 시약에 대한 가이드 라인을 발표했다. 본 연구에서는, 미국 FDA에 승인을 받은 결핵균 및 비결핵 항산균에 대한 체외 진단 시약의 성능을 검토하였다. 이 검토는 결핵균 및 비결핵 항상균 체외 진단 시약 평가에 유용한 참고 자료가 될것으로 사료된다.

감염관리 분야에서 감시배양검사의 표준화 연구 (Study on the Standardization of a Surveillance Culture Laboratory in Infection Control Fields)

  • 박창은;정나연;양민지;김한울;주세익;김건한;성희경;황유연;임현미;손재철;윤선한;윤남섭;장인호
    • 대한임상검사과학회지
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    • 제50권3호
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    • pp.359-369
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    • 2018
  • 의료 관련 감염을 예방하기 위한 필수적 방법은 일관성이 있는 감염감시 시스템을 구축하고 효율적인 감시 통제를 수행하기 위해 신뢰할 수 있는 상황에 대해 진단을 향상시켜나가는 것이다. 또한 의료 종사자의 손과 의복 및 장비는 환자 관리 및 환경과 접촉하여 병원체가 오염되는 요인이다. 병원체를 가진 시설 표면(예: 침대 레일, 침대 옆 탁자), 음용수, 냉각탑용수, 내시경기구, 급식위생, 공기매개, 멸균검사, 내독소검사, 및 의료 장비를 포함한 의료 환경의 오염은 일반적으로 발생한다. 또한 이러한 감염원을 활동 감시를 통해 MLST, PFGE의 기법으로 역학분석을 수행한다. 따라서 HAI 예방을 위한 환경 감시배양 검사는 환자의 안전과 감염원의 차단을 향상시킬 뿐만 아니라 국가의 감염관리 시스템을 통제하여 최적의 효율적인 감염관리 예방을 가능케 하고 국가의 감염관리 시스템의 안전을 향상시킨다. 결론적으로 감시배양 검사의 표준화를 통해 실효성 있는 감염관리체계에 이바지하고 감염관리 전문인력으로서의 전문성을 확보하고자 한다. 이를 통해 표준화 마련의 일차적인 목표는 의료관련 감염을 줄이고 국가적 의료관리 체계를 향상시키는데 있다.

정상기능 갑상선 결절 환자에서 갑상선 유두암의 의미 있는 예측인자로서 혈청 갑상선 자극호르몬의 역할 (The Role of Serum Thyrotropin Level as a Meaningful Predictor of Papillary Thyroid Cancer in Patients with Nontoxic Nodular Goiter)

  • 문신제;박정환;이유화;홍상모;이창범;박용수;김동선;최웅환;안유헌
    • 대한두경부종양학회지
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    • 제27권2호
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    • pp.198-203
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    • 2011
  • Background and Objectives : Distinguishing benign from malignant lesion in thyroid noddex is important but clinically difficult. FNAB is the first investigation of choice. However, cytologic results are often indeterminable. In those cases, additional molecular biologic tests are helpful. If serologic tests are available to predict malignancy, it can be useful to fortify accurate diagnosis. We analyzed whether TSH or FreeT4 level could be used as a predictor of malignancy. Materials and Methods : From January 2008 to March 2009, 540 patients received one of thyroidectomy in a single center. We only included 167 patients from 18 to 65 years old without cardiopulmonary or renal disorders. All the patients were in euthyroid state and took no medications, which affect the thyroid function. We reviewed charts retrospectively to find out differences in TSH level and FreeT4 level between the benign and malignant groups. Results : In this study, all the patients with malignancy had the papillary cancer. In benign group, average TSH level came out to be 1.48mU/L, whereas the average TSH level of malignant group was 1.98 mU/L. Moreover, the higher the cancer stage was, the higher the TSH level was. Although we have adjusted factors that can affect TSH level(age, sex, race, goiter type), we still received the same result. The risk of malignant cancer increased in proportion with TSH level within the normal range. In free T4 level, there was no difference between benign and malignant group. Conclusion : We propose that TSH level can play a role as one of the predictors for thyroid cancer. However, there is limitation because all the patients with malignancy in this study have papillary cancer. Thus, we can apply this result only in papillary cancer, and we need more study for other types of thyroid cancer.

Relative Frequency of Oral Malignancies and Oral Precancer in the Biopsy Service of Jazan Province, 2009-2014

  • Idris, AM;Vani, NV;Saleh, Sanna;Tubaigy, Faisal;Alharbi, Fahd;Sharwani, Abubkr;Tadrus, Nabil;Warnakulasuriya, Saman
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권2호
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    • pp.519-525
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    • 2016
  • Background: The objective of this study was to report the types and relative frequency of oral malignancies and precancer in the Jazan region of Saudi Arabia during the period 2009-2014. Materials and Methods: Pathology reports were retrieved from the archives of Histopathology Department, King Fahd hospital in Jazan. Demographic data on tobacco habits, clinical presentation and histologic grading of oral precancer and cancer cases were transcribed from the files. Results: 303 (42.7%) oral pre-malignant and malignant cases were found out of 714 oral biopsy lesions. A pathology diagnosis of squamous cell carcinoma (85.1%) was most frequent, followed by premalignant lesions/epithelial dysplasia (8.6%), verrucous carcinoma (3.3%) and malignancy of other histological types (3%) such as ameloblastic carcinoma, salivary gland malignancy and sarcomas. Oral squamous cell carcinoma was predominant in females with a male to female ratio of 1:1.9. Patient age ranged from 22 to 100 years with a mean of $65{\pm}13.9$. Almost 44.6% of oral cancer had occurred after 65 years of age. Only 16.3% cases were reported in patients younger than 50 years, predominantly females. The majority of female patients had the habit of using shammah with a long duration of usage for more than 45 years. Buccoalveolar mucosa (52.3%) was the common site of involvement followed by tongue/floor of the mouth (47.7%) and clinically presented mostly as ulceration/swelling clinically. Moderately differentiated tumours (53.9%) were common followed by well differentiated (32.2%) and poorly differentiated tumours (5.8%). The prevalence of oral verrucous carcinoma (3.3%) was comparatively low with an equal distribution in both males and females. Both bucco-alveolar mucosa and tongue were predominantly affected. Oral precancer/epithelial dysplasia (8.6%) was common in females with a shammah habit. Bucco-alveolar mucosa was commonly involved and clinically presented mostly as white/red patches. Most cases were mild followed by moderate and severe dysplasia. Tumours of other histological types (3%) include 1 ameloblastic carcinoma, 3 malignant salivary gland tumours and 5 sarcomas. Conclusions: In this study, it was found that oral cancers reported in the pathology service to be a common occurrence. This study reconfirms previous reports of the high burden of oral cancer in this population This indicates that conventional preventive programs focused on oral cancer are in need of revision. In addition, further research into identifying new risk factors and molecular markers for oral cancer are needed for screening high risk individuals.

Clinical Outcome of Turkish Metastatic Breast Cancer Patients with Currently Available Treatment Modalities - Single Center Experience

  • Cabuk, Devrim;Basaran, Gul;Teomete, Mehmet;Dane, Faysal;Korkmaz, Taner;Seber, Selcuk;Telli, Ferhat;Yumuk, Perran Fulden;Turhal, Serdar
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권1호
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    • pp.117-122
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    • 2014
  • Background: Breast cancer is the most common malignancy and the second leading cause of cancer-related death among women in the developed countries. Despite advances in screening, improved local therapies and adjuvant systemic treatments, median survival of metastatic breast cancer patients (MBC) is in the range of 2-3 years at most. We aimed to investigate whether the prognostic factors and therapeutic responses of our Turkish patients are similar to those in the literature. Materials and Methods: We reviewed the medical records of MBC patients who had been treated in our institution between 1999-2009 and analyzed their clinicopathological features and survival outcomes retrospectively Results: A hundred and sixty patients were included. Median age was 47 (23-82), median follow up was 24 (2-186) months. At the time of diagnosis 59% of patients were under the age of 50 and 46% were postmenopausal. The majority (37%) had multiple sites of metastases. Forty percent received endocrine therapy and 40% chemotherapy as first line metastatic treatment. Thirty (20%) patients were treated with molecular targeting agents like trastuzumab, lapatinib and sunitinib, frequently combined with a chemotherapy agent. Five-year overall survival (OS) was 32% and median OS was 38 months for the whole group. Five year progression free survival (PFS) was 10% and median PFS was 10 months. Menopausal status, hormone receptor expression and disease free status had a significant impact on overall survival in the multivariate analysis (p 0.018, p 0.018 and p:0.003, respectively). Conclusions: All our patients were treated with the modern oncologic therapies recommended by the international guidelines. From our data, MBC patients live up to 3-4 years, indicating that further improvement beyond that requires development of new treatment modalities. The survival outcomes of our patients were consistent with the data reported in the literature.

Knockdown of GCF2/LRRFIP1 by RNAi Causes Cell Growth Inhibition and Increased Apoptosis in Human Hepatoma HepG2 Cells

  • Li, Jing-Ping;Cao, Nai-Xia;Jiang, Ri-Ting;He, Shao-Jian;Huang, Tian-Ming;Wu, Bo;Chen, De-Feng;Ma, Ping;Chen, Li;Zhou, Su-Fang;Xie, Xiao-Xun;Luo, Guo-Rong
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권6호
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    • pp.2753-2758
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    • 2014
  • Background: GC-binding factor 2 (GCF2) is a transcriptional regulator that represses transcriptional activity of the epidermal growth factor receptor (EGFR) by binding to a specific GC-rich sequence in the EGFR gene promoter. In addition to this function, GCF2 has also been identified as a tumor-associated antigen and regarded as a potentially valuable serum biomarker for early human hepatocellular carcinoma (HCC) diagnosis. GCF2 is high expressed in most HCC tissues and cell lines including HepG2. This study focused on the influence of GCF2 on cell proliferation and apoptosis in HepG2 cells. Materials and Methods: GCF2 expression at both mRNA and protein levels in HepG2 cells was detected with reverse transcription (RT) PCR and Western blotting, respectively. RNA interference (RNAi) technology was used to knock down GCF2 mRNA and protein expression. Afterwards, cell viability was analyzed with a Cell Counting Kit-8 (CCK-8), and cell apoptosis and caspase 3 activity by flow cytometry and with a Caspase 3 Activity Kit, respectively. Results: Specific down-regulation of GCF2 expression caused cell growth inhibition, and increased apoptosis and caspase 3 activity in HepG2 cells. Conclusions: These primary results suggest that GCF2 may influence cell proliferation and apoptosis in HepG2 cells, and also provides a molecular basis for further investigation into the possible mechanism at proliferation and apoptosis in HCC.

Effects of miR-152 on Cell Growth Inhibition, Motility Suppression and Apoptosis Induction in Hepatocellular Carcinoma Cells

  • Dang, Yi-Wu;Zeng, Jing;He, Rong-Quan;Rong, Min-Hua;Luo, Dian-Zhong;Chen, Gang
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권12호
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    • pp.4969-4976
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    • 2014
  • Background: miR-152 is involved in the genesis and development of several malignancies. However, its role in HCC has not been fully clarified. The aim of this study was to investigate the clinicopathological significance of miR-152 and its effect on the malignant phenotype of HCC cells. Methods: miR-152 expression was detected using real-time quantitative RT-PCR in 89 pairs of HCC formalin-fixed paraffin-embedded and their adjacent tissues. Functionally, in vitro effects and mechanisms of action of miR-152 on proliferation, viability, caspase activity, apoptosis and motility were explored in HepG2, HepB3 and SNU449 cells, as assessed by spectrophotometry, fluorimetry, fluorescence microscopy, wound-healing and Western blotting, respectively. Results: miR-152 expression in HCC was downregulated remarkably compared to that in adjacent hepatic tissues. miR-152 levels in groups of advanced clinical stage, larger tumor size and positive HBV infection, were significantly lower than in other groups. A miR-152 mimic could suppress cell growth, inhibit cell motility and increase caspase activity and apoptosis in HCC cell lines. Furthermore, Western blotting showed that the miR-152 mimic downregulated Wnt-1, DNMT1, ERK1/2, AKT and TNFRS6B signaling. Intriguingly, inverse correlation of TNFRF6B and miR-152 expression was found in HCC and bioinformatics confirmed that TNFRF6B might be a target of miR-152. Conclusions: Underexpression of miR-152 plays a vital role in hepatocarcinogenesis and lack of miR-152 is related to the progression of HCC through deregulation of cell proliferation, motility and apoptosis. miR-152 may act as a tumor suppressor miRNA by also targeting TNFRSF6B and is therefore a potential candidate biomarker for HCC diagnosis, prognosis and molecular therapy.

Assessment of the Prognostic Value of Methylation Status and Expression Levels of FHIT, GSTP1 and p16 in Non-Small Cell Lung Cancer in Egyptian Patients

  • Haroun, Riham Abdel-Hamid;Zakhary, Nadia Iskandar;Mohamed, Mohamed Ragaa;Abdelrahman, Abdelrahman Mohamed;Kandil, Eman Ibrahim;Shalaby, Kamal Ali
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권10호
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    • pp.4281-4287
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    • 2014
  • Background: Methylation of tumor suppressor genes has been investigated in all kinds of cancer. Tumor specific epigenetic alterations can be used as a molecular markers of malignancy, which can lead to better diagnosis, prognosis and therapy. Therefore, the aim of this study was to evaluate the association between gene hypermethylation and expression of fragile histidine triad (FHIT), glutathione S-transferase P1 (GSTP1) and p16 genes and various clinicopathologic characteristics in primary non-small cell lung carcinomas (NSCLC). Materials and Methods: The study included 28 primary non-small cell lung carcinomas, where an additional 28 tissue samples taken from apparently normal safety margin surrounding the tumors served as controls. Methylation-specific polymerase chain reaction (MSP) was performed to analyze the methylation status of FHIT, GSTP1 and p16 while their mRNA expression levels were measured using a real-time PCR assay with SYBR Green I. Results: The methylation frequencies of the genes tested in NSCLC specimens were 53.6% for FHIT, 25% for GSTP1, and 0% for p16, and the risk of FHIT hypermethylation increased among patients with NSCLC by 2.88, while the risk of GSTP1 hypermethylation increased by 2.33. Hypermethylation of FHIT gene showed a highly significant correlation with pathologic stage (p<0.01) and a significant correlation with smoking habit and FHIT mRNA expression level (p<0.05). In contrast, no correlation was observed between the methylation of GSTP1 or p16 and smoking habit or any other parameter investigated (p>0.05). Conclusions: Results of the present study suggest that methylation of FHIT is a useful biomarker of biologically aggressive disease in patients with NSCLC. FHIT methylation may play a role in lung cancer later metastatic stages while GSTP1 methylation may rather play a role in the early pathogenesis.

당원 축적병 9D (GSD9D) 환자의 신규 PHKA1 돌연변이 (A Novel PHKA1 Mutation in a Patient with Glycogen Storage Disease Type IXD)

  • 김혜진;남수현;김상범;정기화;최병옥
    • 생명과학회지
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    • 제30권8호
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    • pp.672-679
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    • 2020
  • 원위 근병증은 원위 근육의 퇴행성 질환이며 임상적, 유전적으로 이질적인 그룹이다. 당원 축적병 9D (GSD9D)는 원위 근병증 중 하나이며, 근육의 포스포릴라아제키나아제(phosphorylase kinase) 결핍을 특징으로 하는 대사 근병증이다. GSD9D 환자는 운동 후 근육 약화, 근육 변성, 경련과 비정상적인 근육통 및 근육 경직이 발생될 수 있다. GSD9D는 글리코겐 대사의 주요 조절 효소 인 근육 포스포릴라아제키나아제의 알파 소단위를 암호화하는 PHKA1 유전자의 돌연변이로 유발된다. 이 연구에서 우리는 한국인 GSD9D 가족에 대해 PHKA1 유전자에서 c.3314T> C (p.I1105T) 돌연변이를 동정하였다. 이 돌연변이는 이전에 어떠한 돌연변이 데이터베이스에서도 보고되지 않았으며 500명의 건강한 대조군에서도 발견되지 않았다. 이 돌연변이 영역은 다양한 다른 종 내에서 잘 보존되었으며 in silico 분석에서 돌연변이가 병원성일 가능성이 있다고 예측했다. 현재까지 PHKA1 유전자에는 보고된 병원성 돌연변이가 7개뿐이며 한국에서는 보고된 사례가 없다. 따라서 이 연구는 한국 GSD9D 환자의 첫번째 사례이다. 또한 이 연구는 이전에 보고된 환자와 한국 환자의 임상 증상과 병리 상태를 비교하고 설명하고자 하였다. 아울러 우리는 본 연구가 GSD9D의 분자 진단에 유용하게 활용될 것으로 기대한다.