• 제목/요약/키워드: case marker

검색결과 290건 처리시간 0.023초

Evaluation of MT1XT20 Single Quasi-Monomorphic Mononucleotide Marker for Characterizing Microsatellite Instability in Persian Lynch Syndrome Patients

  • Farahani, Najmeh;Nikpour, Parvaneh;Emami, Mohammad Hassan;Hashemzadeh, Morteza;Zeinalian, Mehrdad;Shariatpanahi, Seyed Shervin;Salehi, Rasoul
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권9호
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    • pp.4259-4265
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    • 2016
  • Background: Colorectal malignancies with high microsatellite instability (MSI-H), either hereditary (Lynch syndrome) or sporadic, demonstrate better prognosis and altered response to 5FU chemotherapy. It is now recommended to perform MSI testing for all new cases of colorectal cancer regardless of being categorized as hereditary or sporadic. For MSI detection, immunohistochemistry or PCR-based protocols using a cohort of various sets of STR markers are recommended. Here we aimed to evaluate a simplified protocol using just a single STR marker, MT1XT20 mononucleotide repeat, for detection of MSI in Lynch syndrome patients. A Promega five-marker MSI testing panel and immunohistochemistry (IHC) were used as the gold standard in conjunction with MT1XT20. Materials and Methods: Colorectal patients with a positive history of familial cancers were selected by evaluating medical records. Based on Amsterdam II criteria for Lynch syndrome 20 families were short listed. DNA was extracted from formalin fixed paraffin embedded tumour and adjacent normal tissues resected from the index case in each family. Extracted DNA was subjected to MT1XT20 mononucleotide marker analysis and assessment with a commercially available five marker MSI testing kit (Promega, USA). IHC also was performed on tissue sections and the results were compared with PCR based data. Results: Eight (40%), seven (35%) and five (25%) cases were MSI positive using with the Promega kit, IHC and MT1XT20, respectively. Among the markers included in Promega kit, BAT26 marker showed instability in all 8 samples. NR24 and NR21 markers showed instability in 7 (87.5%), and BAT25 and MONO 27 in 6 (75%) and 5 (62.5%). Conclusions: Although MT1XT20 was earlier reported as a valid standalone marker for MSI testing in CRC patients, we could not verify this in our Iranian patients. Instead BAT26 among the markers included in Promega MSI testing kit showed instability in all 8 MSI-H CRC samples. Therefore, it seems BAT26 could act well as a single marker for MSI testing in Iranian CRC patients.

Fiducial Marker가 삽입된 전립선암 환자를 대상으로 한 양사방향 촬영의 유용성 평가 (Evaluation of Usability Both Oblique Verification for Inserted Fiducial Marker of Prostate Cancer Patients)

  • 김군주;이정진;김성기;임현실;김완선;강수만
    • 대한방사선치료학회지
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    • 제25권2호
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    • pp.123-129
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    • 2013
  • 목 적: 전립선암 환자의 정확한 방사선치료를 위해 사전에 fiducial marker를 삽입하고 매 치료 전에 전립선의 위치를 확인 하는 방법이 있다. OBI (On-Board Imager)를 이용하여 대퇴부와 골반부에 가려져 잘 보이지 않았던 fiducial marker를 보다 명확히 확인할 수 있는 KV X-ray Both oblique (양사방향)촬영을 시행하고 기존의 2D/2D match (AP/LAT)촬영방법과 비교해서 그 유용성을 평가해 보고자 한다. 대상 및 방법: 2012년 9월부터 2013년 4월까지 본과의 전립선암 환자 중 fiducial marker를 삽입하고 직장 ballooning을 시행한 환자 5명을 대상으로 치료 전 기존의 위치잡이 방법인 2D/2D match (AP/LAT) 즉 $0^{\circ}$$270^{\circ}$ 각도의 DRR (digital reconstruction radiography) 영상을 구성하고, 치료실에서는 환자 셋업 후 On-Board Imager로 얻어낸 $0^{\circ}$$270^{\circ}$ 방향의 KV X-ray Live 영상과 융합시켜 marker matching을 하고 X, Y, Z축에 대한 보정 값을 산출하였다. 또한 이와 비교 평가하는 양사방향 촬영에 적합한 각도를 결정하기 위하여 OBI source 각도 $10^{\circ}$ 간격으로 $0{\sim}360^{\circ}$ 방향의 DRR (digital reconstruction radiography) 영상을 구성한 후 그 중에서 fiducial maker가 가장 명확히 보이는 정 양사방향 $45^{\circ}$$315^{\circ}$ 방향의 영상을 선택하여 X, Y, Z축에 대한 보정 값을 산출하였으며, 기존의 AP/LAT ($0^{\circ}$$270^{\circ}$) matching 방법 비교평가 하기 위해 새롭게 구성한 양사방향($45^{\circ}$$315^{\circ}$) matching 방법을 격일로 병행하면서 fiducial maker matching을 실시하였다. 각 방법별 발생된 오차 이동 값에 대해서는 matching 후 보정하여 치료에 적용하였다. 결 과: OBI KV X-ray 영상을 이용한 2D/2D match는 직교하는 두 개의 영상이 필요하므로 직교가 되면서 fiducial marker의 위치파악이 명확하고, matching이 가장 유용한 DRR (digital reconstruction radiography) 영상은 OBI source 각도 $45^{\circ}$$315^{\circ}$ 방향에서 marker matching이 가장 유용하였으며, 각각의 matching 방법에 따라 환자를 셋업 하고 각 환자별로 치료 분할 수에 따른 각각의 X, Y, Z축의 오차 이동 값 $Mean{\pm}SD$를 산출한 결과, X축에서 AP/LAT: $0.4{\pm}1.67$ mm, OBLIQUE: $0.4{\pm}1.82$ mm, Y축에서 AP/LAT: $0.7{\pm}1.73$ mm, OBLIQUE: $0.2{\pm}1.77$ mm, Z축에서 AP/LAT: $0.8{\pm}1.94$ mm, OBLIQUE: $1.5{\pm}2.8$ mm로 나타났다. 즉 기존의 AP/LAT방향과 양사방향 촬영의 비교결과 오차 이동 값은 Z축 방향으로 다소 높게 나타났다. 이러한 오차 이동 값은 대상 환자의 적절한 전 처치 시행 여부와 치료 시 필연적으로 발생하는 셋업오차라 사료되며 각 환자별로 오차 값을 보정해서 치료에 적용하였다. 결 론: 전립선암 환자의 치료 전 자세 위치잡이 단계 시 OBI source angle $45^{\circ}/315^{\circ}$ 양사방향 촬영은 기존의 OBI source 각도 $0^{\circ}/270^{\circ}$ 방향의 AP/LAT 촬영보다 명확하게 fiducial marker를 확인 할 수 있으므로 보다 정확한 fiducial matching이 가능하였다. 또한 명확한 marker의 위치확인으로 matching에 소요되는 시간도 단축시킬 수 있었다. 그리고 기존의 방법 보다 적은 피폭선량으로 촬영이 가능 하였다. 따라서 전립선암 환자 뿐 만 아니라 양사방향 위치잡이 방법을 이용 할 수 있는 다른 치료부위에 대해서도 프로토콜을 마련하여 적용하면 정확한 치료에 필수적인 위치잡이 방법의 질을 향상 시키는데 기여 할 수 있으리라고 사료된다.

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A case of isodicentric chromosome 15 presented with epilepsy and developmental delay

  • Kim, Jon Soo;Park, Jinyu;Min, Byung-Joo;Oh, Sun Kyung;Choi, Jin Sun;Woo, Mi Jung;Chae, Jong-Hee;Kim, Ki Joong;Hwang, Yong Seung;Lim, Byung Chan
    • Clinical and Experimental Pediatrics
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    • 제55권12호
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    • pp.487-490
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    • 2012
  • We report a case of isodicentric chromosome 15 (idic(15) chromosome), the presence of which resulted in uncontrolled seizures, including epileptic spasms, tonic seizures, and global developmental delay. A 10-month-old female infant was referred to our pediatric neurology clinic because of uncontrolled seizures and global developmental delay. She had generalized tonic-clonic seizures since 7 months of age. At referral, she could not control her head and presented with generalized hypotonia. Her brain magnetic resonance imaging scans and metabolic evaluation results were normal. Routine karyotyping indicated the presence of a supernumerary marker chromosome of unknown origin (47, XX +mar). An array-comparative genomic hybridization (CGH) analysis revealed amplification from 15q11.1 to 15q13.1. Subsequent fluorescence in situ hybridization analysis confirmed a idic(15) chromosome. Array-CGH analysis has the advantage in determining the unknown origin of a supernumerary marker chromosome, and could be a useful method for the genetic diagnosis of epilepsy syndromes associated with various chromosomal aberrations.

p16 - a Possible Surrogate Marker for High-Risk Human Papillomaviruses in Oral Cancer?

  • Sritippho, Thanun;Pongsiriwet, Surawut;Lertprasertsuke, Nirush;Buddhachat, Kittisak;Sastraruji, Thanapat;Iamaroon, Anak
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권8호
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    • pp.4049-4057
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    • 2016
  • Background: High-risk human papillomaviruses (HR-HPV), particularly types 16 and 18, have been found to play an important role in head and neck cancer, including oropharyngeal squamous cell carcinoma (OPSCC) and oral squamous cell carcinoma (OSCC). p16, a cell cycle inhibitor, has been postulated as a surrogate marker for HR-HPV, since p16 is aberrantly overexpressed in such lesions, especially in HR-HPV-positive OPSCC. However, p16 as a surrogate marker for HR-HPV infection in cancers of the oral cavity remains controversial. Objective: The objectives of the study were to investigate the expression of p16 and the presence of HR-HPV in OSCC and oral verrucous carcinoma (VC) and to determine if p16 could be used as a surrogate marker for HR-HPV. Materials and Methods: Forty one formalin-fixed, paraffin-embedded tissues of OSCC (n=37) or VC (n=4) with clinical and histopathologic data of each case were collected. Expression of p16 was determined by immunohistochemistry, focusing on both staining intensity and numbers of positive cells. The presence of HPV types 16 and 18 was detected by polymerase chain reaction (PCR). Descriptive statistics were employed to describe the demographic, clinical, and histopathologic parameters. Associations between p16 overexpression, HR-HPV and all variables were determined by Fisher's exact test, odds ratios (ORs) and corresponding 95% confidence intervals (CIs). In addition, the use of p16 as a surrogate marker for HR-HPV was analyzed by sensitivity and specificity tests. Results: p16 was overexpressed in 8/37 cases (21.6%) of OSCC and 2/4 cases (50%) of VC. HPV-16 was detected in 4/34 OSCC cases (11.8%) and HPV-18 was detected in 1/34 OSCC cases (2.9%). Co-infection of HPV-16/18 was detected in 1/4 VC cases (25%). Both p16 overexpression and HR-HPV were significantly associated with young patients with both OSCC and VC (p<0.05, OR 20, 95% CI 1.9-211.8; p<0.05, OR 23.3, 95% CI 2.4-229.7, respectively). p16 was able to predict the presence of HPV-16/18 in OSCC with 40% sensitivity and 79.3% specificity and in VC with 100% sensitivity and 66.7% specificity, respectively. Conclusions: p16 overexpression was found in 24.4% of both OSCC and VC. HR-HPV, regardless of type, was detected in 15.8% in cases of OSCC and VC combined. The results of sensitivity and specificity tests suggest that p16 can be used as a surrogate marker for HR-HPV in OSCC and VC.

염색체 마이크로어레이를 이용한 표지염색체의 분자세포유전학적 특성 (Molecular Cytogenetic Characterization of Supernumerary Marker Chromosomes by Chromosomal Microarray)

  • 배미현;유한욱;이진옥;홍마리아;서을주
    • Journal of Genetic Medicine
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    • 제8권2호
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    • pp.119-124
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    • 2011
  • 목적: 표지염색체(supernumerary marker chromosome, SMC)는 유래한 염색체에 따라서 임상 증상이 다양하다. 본 연구는 염색체 마이크로어레이를 이용하여 SMC의 기원을 밝히고 각 증례마다 분자세포유전학적 특성과 임상 표현형을 분석하고자 하였다. 대상 및 방법: 염색체 검사에서 SMC가 검출된 환자들 중에서 15번 염색체 유래를 제외한 4명의 환자에서 CGH 기법의 올리고 뉴클레오티드 염색체 마이크로어레이를 시행하였다. 결과: 3명의 환자에서 유래된 염색체 부위를 확인할 수 있었다. 증례1은 1q21.1-q23.3에서 16.1 Mb의 SMC를 가졌고, 증례2는 19p13.11-q13.12에서 21 Mb, 증례3은 22q11.1-q11.21과 22q11.22-q11.23의 두 구간에서 각각 2.5Mb와 2.0Mb로 재배열된 4.5 Mb의 SMC를 나타내었다. 결론: 증례1은 1q21.1 중복증후군을 포함하여 광범위한 임상표 현형을 나타내었다. 증례2는 아스퍼거 증후군과 유사한 정신행동 이상 소견은 19p12-q13.11, 청력장애와 사시는 19p13.11, 그 외 증상은 19q13.12의 유전자와 연관 가능성이 높다. 증례3은 묘안 증후군 type I 및 22q11.2 미세중복증후군과 비교했을 때 항문폐쇄는 22q11.1-q11.21, 그 외 증상들은 22q11.22-q11.23과 연관성을 시사하였다. 고해상도 염색체 마이크로어레이 분석은 SMC의 유래를 확인할 수 있고 유전형-표현형 상관성을 이해함으로써 유전상담에 도움이 된다.

Case Drop and Prosodic Structure in Korean

  • Hong, Sung-Hoon
    • 음성과학
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    • 제7권3호
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    • pp.35-51
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    • 2000
  • The goal of this paper is to examine how Case Drop (the drop of the case markers) correlates with the prosodic structure in Korean. On the assumption that intervocalic Lenis Stop Voicing (LSV) applies within the domain of the Accentual Phrase (AP), voicing analyses are performed on intervocalic lenis stop consonants before and after Case Drop. A statistical analysis reveals that the drop of the nominative and accusative case markers significantly alter the AP structure. Pitch values will then be extracted to verify that such changes in the AP structure conform to the pitch properties proposed for the AP (Jun 1993, 1998). The results show that the AP structure suggested by LSV does not always coincide with that imposed by the pitch properties.

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골의 거대세포종양의 재발과 면역조직화학적 표지자(MCM3, Ki-67 그리고 HH3)의 발현율과의 연관성 (Association with Recurrence of Giant cell Tumor of Bone Between Immunohistochemical Marker (MCM3, Ki-67 and HH3) Expression Rate)

  • 하종경;정훈;김용주;이관희;최경업
    • 대한골관절종양학회지
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    • 제13권2호
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    • pp.67-74
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    • 2007
  • 목적: 골의 거대세포종양의 재발과 면역조직화학적 표지자와의 연관성을 연구하였다. 대상 및 방법: 골에서 유발된 거대세포종양 10례를 대상으로 하였다. 6명은 남자, 4명은 여자였다. 모든 환자는 수술 전 생검을 통해 확진 후 수술을 시행하였다. 방사선학적 분류는 Enneking grading system에 의하여 이루어졌다. 면역조직화학적 연구를 위해 MCM3, Ki-67 그리고 HH3 표지자가 사용되었다. 면역조직화학적 검사는 Microarray block을 사용하여 시행하였다. 결과: 10례 중 3례(30%)에서 같은 위치에서 재발되었다. 재발된 3례 중 2례는 방사선학적 단계 상 단계 2였고, 1례는 단계 1이었다. 면역조직화학적 표지자의 발현율이 방사선학적 단계 1보다 2, 3에서 증가되었다. 하지만 결과의 일관성이 없어 세포 증식율과 방사선학적 단계의 연관성은 판별하기 어렵다. 평균 MCM3 표지자의 발현율은 재발하지 않은 종양에서 11.2%, 재발한 종양에서 7.2%였다. Ki-67은 12%, 8.9% 였고, HH3는 66.9%, 75.4%였다. MCM3 와 Ki-67 표지자는 재발한 종양에서 오히려 감소된 결과를 보여 재발율과는 연관이 없을 것으로 생각된다. HH3표지자는 재발한 종양에서 증가된 소견을 보여 거대세포종양의 재발과 연관이 있음을 보여주었다. 결론: 본 연구는 면역조직화학적 표지자 중 HH3표지자가 거대세포종양의 재발 가능성을 판정하는데 기준이 될 수 있을 것으로 생각된다.

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Pan/Tilt스테레오 카메라를 이용한 이동 물체의 강건한 시각추적 (Robust 3D visual tracking for moving object using pan/tilt stereo cameras)

  • 조지승;정병묵;최인수;노상현;임윤규
    • 한국정밀공학회지
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    • 제22권9호
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    • pp.77-84
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    • 2005
  • In most vision applications, we are frequently confronted with determining the position of object continuously. Generally, intertwined processes ire needed for target tracking, composed with tracking and control process. Each of these processes can be studied independently. In case of actual implementation we must consider the interaction between them to achieve robust performance. In this paper, the robust real time visual tracking in complex background is considered. A common approach to increase robustness of a tracking system is to use known geometric models (CAD model etc.) or to attach the marker. In case an object has arbitrary shape or it is difficult to attach the marker to object, we present a method to track the target easily as we set up the color and shape for a part of object previously. Robust detection can be achieved by integrating voting-based visual cues. Kalman filter is used to estimate the motion of moving object in 3D space, and this algorithm is tested in a pan/tilt robot system. Experimental results show that fusion of cues and motion estimation in a tracking system has a robust performance.

한방치료와 XELOX 요법을 병행하여 호전된 간, 폐 전이 대장암 환자 1례 (A Case of Hepatic and Pulmonary Metastatic Colorectal Cancer Patient Treated by Traditional Korean Therapy and XELOX Chemotherapy)

  • 임창락;권강;서영찬;방선휘;김성수;성신
    • 대한암한의학회지
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    • 제17권1호
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    • pp.17-25
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    • 2012
  • Objective : This report is aimed to investigate the effectiveness of traditional korean therapy including intravenous Cultivated Wild Ginseng Pharmacopuncture (CWGP) and Soram immunopharmacopuncture with XELOX chemotherapy in treating metastatic colorectal cancer patient. Methods : A 47-year-old woman who was diagnosed as metastatic colorectal cancer on Oct 2011 was concurrently treated with traditional Korean therapy (TKT) and XELOX (capecitabine plus oxaliplatin) for 7 months. TKT includes intravenous CWGP, Soram immuno-pharmacopuncture, acupuncture, moxibustion, and herbal medicine. The effectiveness of therapies was evaluated with computed tomography and tumor marker levels such as carcinoembryonic antigen (CEA) and carbohydrate antigen 19-9 (CA19-9). And pain on the lateral abdomen was recorded with Visual Analogue Scale (VAS). Results : The tumor mass size of metastatic liver was decreased from 10 cm to 4.3 cm. The tumor marker levels such as CEA and CA19-9 are also decreased. From these results, this case report suggests that the TKT with palliative chemotherapy may be a useful method to treat unresectable metastatic colorectal cancer.

Gastrointestinal Tract Involvement of Gorham's Disease with Expression of D2-40 in Duodenum

  • Choi, Bong Seok;Hong, Suk Jin;Chu, Mi Ae;Lee, Seok Jong;Lee, Jong-Min;Bae, Han Ik;Choe, Byung-Ho
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • 제17권1호
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    • pp.52-56
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    • 2014
  • We present a case of a 13-year-old boy with Gorham's disease involving the thoracic and lumbar spine, femur, and gastrointestinal (GI) tract, which was complicated by recurrent chylothorax and GI bleeding. The presenting symptoms were intermittent abdominal pain, back pain, and melena. Esophagogastroduodenoscopy and colonoscopy showed no abnormal lesions, but duodenal biopsy showed marked dilation of the lymphatics in the mucosa and submucosa, which revealed positive staining with a D2-40 immunohistochemical marker. In cases of GI bleeding with osteolysis, the expression of a D2-40 marker in the lymphatic endothelium of the GI tract may help to diagnose GI involvement in Gorham's disease. To the best of our knowledge, this is the first case report to pathologically demonstrate intestinal lymphatic malformation as a cause of GI bleeding in Gorham's disease.