- Prediction of TP53 mutations by p53 immunohistochemistry and their prognostic significance in gastric cancer
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Hye Jung Hwang, Soo Kyung Nam, Hyunjin Park, Yujun Park, Jiwon Koh, Hee Young Na, Yoonjin Kwak, Woo Ho Kim, Hye Seung Lee
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J Pathol Transl Med. 2020;54(5):378-386. Published online July 1, 2020
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DOI: https://doi.org/10.4132/jptm.2020.06.01
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- Background
Recently, molecular classifications of gastric cancer (GC) have been proposed that include TP53 mutations and their functional activity. We aimed to demonstrate the correlation between p53 immunohistochemistry (IHC) and TP53 mutations as well as their clinicopathological significance in GC.
Methods Deep targeted sequencing was performed using surgical or biopsy specimens from 120 patients with GC. IHC for p53 was performed and interpreted as strong, weak, or negative expression. In 18 cases (15.0%) with discrepant TP53 mutation and p53 IHC results, p53 IHC was repeated.
Results Strong expression of p53 was associated with TP53 missense mutations, negative expression with other types of mutations, and weak expression with wild-type TP53 (p<.001). The sensitivity for each category was 90.9%, 79.0%, and 80.9%, and the specificity was 95.4%, 88.1%, and 92.3%, respectively. The TNM stage at initial diagnosis exhibited a significant correlation with both TP53 mutation type (p=.004) and p53 expression status (p=.029). The Kaplan-Meier survival analysis for 109 stage II and III GC cases showed that patients with TP53 missense mutations had worse overall survival than those in the wild-type and other mutation groups (p=.028). Strong expression of p53 was also associated with worse overall survival in comparison to negative and weak expression (p=.035).
Conclusions Results of IHC of the p53 protein may be used as a simple surrogate marker of TP53 mutations. However, negative expression of p53 and other types of mutations of TP53 should be carefully interpreted because of its lower sensitivity and different prognostic implications.
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J Pathol Transl Med. 2018;52(3):179-182. Published online December 27, 2017
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- We report a case of adenocarcinoma originating from the duodenal Brunner glands in a 47-year-old female patient. The lesion was 0.8 cm in extent and located at the posterior wall of the first part of the duodenum. Histologically, the tumor showed transition from non-neoplastic Brunner glands through dysplastic epithelium into adenocarcinoma. The carcinoma cells were strongly positive for MUC6 protein, which is an epithelial marker for the Brunner glands. Tumor protein p53 was overexpressed in the carcinoma cells, but not in the non-neoplastic or dysplastic epithelium. Dystrophic calcification was predominant. This is the first case report of duodenal adenocarcinoma of Brunner gland origin in Korea.
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DOI: https://doi.org/10.4132/jptm.2017.09.16
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- Perivascular epithelioid cell tumors or PEComas can arise in any location in the body. However, a limited number of cases of gastric PEComa have been reported. We present two cases of gastric PEComas. The first case involved a 62-year-old woman who presented with a 4.2 cm gastric subepithelial mass in the prepyloric antrum, and the second case involved a 67-year-old man with a 5.0 cm mass slightly below the gastroesophageal junction. Microscopic examination revealed that both tumors were composed of perivascular epithelioid cells that were immunoreactive for melanocytic and smooth muscle markers. Prior to surgery, the clinical impression of both tumors was gastrointestinal stromal tumor (GIST), and the second case was erroneously diagnosed as GIST even after microscopic examination. Although gastric PEComa is a very rare neoplasm, it should be considered in the differential diagnosis of gastric submucosal lesions.
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- With recent advances in molecular diagnostic methods and targeted cancer therapies, several molecular tests have been recommended for gastric cancer (GC) and colorectal cancer (CRC). Microsatellite instability analysis of gastrointestinal cancers is performed to screen for Lynch syndrome, predict favorable prognosis, and screen patients for immunotherapy. The epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor has been approved in metastatic CRCs with wildtype RAS (KRAS and NRAS exon 2–4). A BRAF mutation is required for predicting poor prognosis. Additionally, amplification of human epidermal growth factor receptor 2 (HER2) and MET is also associated with resistance to EGFR inhibitor in metastatic CRC patients. The BRAF V600E mutation is found in sporadic microsatellite unstable CRCs, and thus is helpful for ruling out Lynch syndrome. In addition, the KRAS mutation is a prognostic biomarker and the PIK3CA mutation is a molecular biomarker predicting response to phosphoinositide 3-kinase/AKT/mammalian target of rapamycin inhibitors and response to aspirin therapy in CRC patients. Additionally, HER2 testing should be performed in all recurrent or metastatic GCs. If the results of HER2 immunohistochemistry are equivocal, HER2 silver or fluorescence in situ hybridization testing are essential for confirmative determination of HER2 status. Epstein-Barr virus–positive GCs have distinct characteristics, including heavy lymphoid stroma, hypermethylation phenotype, and high expression of immune modulators. Recent advances in next-generation sequencing technologies enable us to examine various genetic alterations using a single test. Pathologists play a crucial role in ensuring reliable molecular testing and they should also take an integral role between molecular laboratories and clinicians.
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Nathália de Angelis de Carvalho, Bianca Naomi Niitsuma, Vanessa Nascimento Kozak, Felipe D’almeida Costa, Mariana Petaccia de Macedo, Bruna Elisa Catin Kupper, Maria Letícia Gobo Silva, Maria Nirvana Formiga, Sahlua Miguel Volc, Samuel Aguiar Junior, Eden Cancers.2020; 12(7): 1848. CrossRef - Farnesoid X receptor antagonizes Wnt/β-catenin signaling in colorectal tumorigenesis
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Tania Fleitas-Kanonnikoff, Carolina Martinez‐Ciarpaglini, Josefina Ayala, Cinthia Gauna, Rita Denis, Ita Yoffe, Silvia Sforza, María Teresa Martínez, Alicia Pomata, Maider Ibarrola‐Villava, Sipan Arevshatyan, Verónica Burriel, Diego Boscá, Oscar Pastor, A Cancer Medicine.2019; 8(6): 3120. CrossRef - Human epidermal growth factor receptor 2-positive digestive tumors
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Carolina Martinez-Ciarpaglini, Tania Fleitas-Kanonnikoff, Valentina Gambardella, Marta Llorca, Cristina Mongort, Regina Mengual, Gema Nieto, Lara Navarro, Marisol Huerta, Susana Rosello, Desamparados Roda, Noelia Tarazona, Samuel Navarro, Gloria Ribas, An ESMO Open.2019; 4(3): e000470. CrossRef - Current and future molecular diagnostics of gastric cancer
Rachel Sin-Yu Choi, Wing Yin Xenia Lai, Lok Ting Claire Lee, Wing Lam Christa Wong, Xiao Meng Pei, Hin Fung Tsang, Joel Johnson Leung, William Chi Shing Cho, Man Kee Maggie Chu, Elaine Yue Ling Wong, Sze Chuen Cesar Wong Expert Review of Molecular Diagnostics.2019; 19(10): 863. CrossRef - Clinicopathologic significance of human leukocyte antigen class I expression in patients with stage II and III gastric cancer
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Hyung Kyu Park, Mingi Kim, Minjung Sung, Seung Eun Lee, Yu Jin Kim, Yoon-La Choi Journal of Translational Medicine.2018;[Epub] CrossRef - Design and synthesis of near-infrared fluorescence-enhancement probes for the cancer-specific enzyme hNQO1
Changyu Zhang, Bei-Bei Zhai, Tao Peng, Zelin Zhong, Lianbin Xu, Qiang-Zhe Zhang, Lu-Yuan Li, Long Yi, Zhen Xi Dyes and Pigments.2017; 143: 245. CrossRef - Progress in the treatment of advanced gastric cancer
Zheyu Song, Yuanyu Wu, Jiebing Yang, Dingquan Yang, Xuedong Fang Tumor Biology.2017; 39(7): 101042831771462. CrossRef - Pathologische Einteilung und Diagnostik des Ösophagus- und Magenkarzinoms
S. Förster, A. Tannapfel Der Gastroenterologe.2017; 12(5): 394. CrossRef - NR4A1-induced increase in the sensitivity of a human gastric cancer line to TNFα-mediated apoptosis is associated with the inhibition of JNK/Parkin-dependent mitophagy
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- Stromal Expression of MicroRNA-21 in Advanced Colorectal Cancer Patients with Distant Metastases
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Kyu Sang Lee, Soo Kyung Nam, Jiwon Koh, Duck-Woo Kim, Sung-Bum Kang, Gheeyoung Choe, Woo Ho Kim, Hye Seung Lee
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J Pathol Transl Med. 2016;50(4):270-277. Published online May 31, 2016
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DOI: https://doi.org/10.4132/jptm.2016.03.19
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Abstract
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- Background
The aim of this study was to determine the regional heterogeneity and clinicopathological significance of microRNA-21 (miR-21) in advanced colorectal cancer (CRC) patients with distant metastasis.
Methods miR-21 expression was investigated by using locked nucleic acid– fluorescence in situ hybridization in the center and periphery of the primary cancer and in distant metastasis from 170 patients with advanced CRC. In addition, α-smooth muscle actin and desmin were evaluated to identify cancer-associated fibroblasts (CAFs) by using immunohistochemistry.
Results The miR-21 signal was observed in the cancer stroma. The expression of miR-21 (a score of 1–4) in the center and periphery of the primary cancer and in distant metastasis was observed in specimens from 133 (78.2%), 105 (61.8%), and 91 (53.5%) patients, respectively. miR-21 expression was heterogeneous in advanced CRC. Discordance between miR-21 expression in the center of the primary cancer and either the periphery of the primary cancer or distant metastasis was 31.7% or 44.7%, respectively. miR-21 stromal expression in the periphery of the primary cancer was significantly associated with a better prognosis (p=.004). miR-21 expression was significantly associated with CAFs in the center of the primary cancer (p=.001) and distant metastases (p=.041).
Conclusions miR-21 expression is observed in cancer stroma related to the CAF quantity and frequently presents regional heterogeneity in CRC. Our findings indicate that the role of miR-21 in predicting prognosis may be controversial but provide a new perspective of miR-21 level measurement in cancer specimens.
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- Heterogeneity of primary and metastatic CAFs: From differential treatment outcomes to treatment opportunities (Review)
Zixing Kou, Cun Liu, Wenfeng Zhang, Changgang Sun, Lijuan Liu, Qiming Zhang International Journal of Oncology.2024;[Epub] CrossRef - Expression of Selected miRNAs in Normal and Cancer-Associated Fibroblasts and in BxPc3 and MIA PaCa-2 Cell Lines of Pancreatic Ductal Adenocarcinoma
Václav Mandys, Alexey Popov, Robert Gürlich, Jan Havránek, Lucie Pfeiferová, Michal Kolář, Jana Vránová, Karel Smetana, Lukáš Lacina, Pavol Szabo International Journal of Molecular Sciences.2023; 24(4): 3617. CrossRef - MicroRNAs and colorectal cancer: clinical potential and regulatory networks
George Yiadom Osei, Joseph Adu-Amankwaah, Selina Koomson, Solomon Beletaa, Emmanuel Akomanin Asiamah, Cecilia Smith-Togobo, Siti Razila Abdul Razak Molecular Biology Reports.2023; 50(11): 9575. CrossRef - MicroRNA-552 expression in colorectal cancer and its clinicopathological significance
Joon Im, Soo Kyung Nam, Hye Seung Lee Journal of Pathology and Translational Medicine.2021; 55(2): 125. CrossRef - Postoperative changes in plasma miR21‐5p as a novel biomarker for colorectal cancer recurrence: A prospective study
Masahiro Fukada, Nobuhisa Matsuhashi, Takao Takahashi, Nobuhiko Sugito, Kazuki Heishima, Kazuhiro Yoshida, Yukihiro Akao Cancer Science.2021; 112(10): 4270. CrossRef - Differential expression of microRNAs in colorectal cancer: Different patterns between isolated cancer gland and stromal cells
Ayaka Sato, Yasuko Fujita, Koki Otsuka, Akira Sasaki, Hiromu Suzuki, Takayuki Matsumoto, Tamotsu Sugai Pathology International.2020; 70(1): 21. CrossRef - High-Throughput Multiplex Immunohistochemical Imaging of the Tumor and Its Microenvironment
Jiwon Koh, Yoonjin Kwak, Jin Kim, Woo Ho Kim Cancer Research and Treatment.2020; 52(1): 98. CrossRef - Tumor Tissue MIR92a and Plasma MIRs21 and 29a as Predictive Biomarkers Associated with Clinicopathological Features and Surgical Resection in a Prospective Study on Colorectal Cancer Patients
Masahiro Fukada, Nobuhisa Matsuhashi, Takao Takahashi, Nobuhiko Sugito, Kazuki Heishima, Yukihiro Akao, Kazuhiro Yoshida Journal of Clinical Medicine.2020; 9(8): 2509. CrossRef - The promising role of noncoding RNAs in cancer-associated fibroblasts: an overview of current status and future perspectives
Zengli Fang, Jin Xu, Bo Zhang, Wei Wang, Jiang Liu, Chen Liang, Jie Hua, Qingcai Meng, Xianjun Yu, Si Shi Journal of Hematology & Oncology.2020;[Epub] CrossRef - Altered miR-21, miRNA-148a Expression in Relation to KRAS Mutation Status as Indicator of Adenoma-Carcinoma Transitional Pattern in Colorectal Adenoma and Carcinoma Lesions
Somayeh Igder, Javad Mohammadiasl, Pooneh Mokarram Biochemical Genetics.2019; 57(6): 767. CrossRef - Development and Validation of an Easy-to-Implement, Practical Algorithm for the Identification of Molecular Subtypes of Gastric Cancer: Prognostic and Therapeutic Implications
Jiwon Koh, Keun-Wook Lee, Soo Kyung Nam, An Na Seo, Ji-Won Kim, Jin Won Kim, Do Joong Park, Hyung-Ho Kim, Woo Ho Kim, Hye Seung Lee The Oncologist.2019; 24(12): e1321. CrossRef - Prognostic Utility of Histological Growth Patterns of Colorectal Lung Oligometastasis
Son Jae Yeong, Min Gyoung Pak, Hyoun Wook Lee, Seung Yeon Ha, Mee Sook Roh Journal of Pathology and Translational Medicine.2018; 52(2): 98. CrossRef - Effect of dietary components on miRNA and colorectal carcinogenesis
Adewale Oluwaseun Fadaka, Babajide A. Ojo, Olusola Bolaji Adewale, Temitope Esho, Ashley Pretorius Cancer Cell International.2018;[Epub] CrossRef - Ligand-Independent Epidermal Growth Factor Receptor Overexpression Correlates with Poor Prognosis in Colorectal Cancer
Sumi Yun, Yoonjin Kwak, Soo Kyung Nam, An Na Seo, Heung-Kwon Oh, Duck-Woo Kim, Sung-Bum Kang, Hye Seung Lee Cancer Research and Treatment.2018; 50(4): 1351. CrossRef - Mutation analysis of CTNNB1 gene and the ras pathway genes KRAS , NRAS , BRAF , and PIK3CA in eyelid sebaceous carcinomas
Mi Jung Kwon, Eun Sook Nam, Seong Jin Cho, Hye-Rim Park, Soo Kee Min, Jinwon Seo, Ji-Young Choe Pathology - Research and Practice.2017; 213(6): 654. CrossRef - Exosomal miRNAs and miRNA dysregulation in cancer-associated fibroblasts
Fengming Yang, Zhiqiang Ning, Ling Ma, Weitao Liu, Chuchu Shao, Yongqian Shu, Hua Shen Molecular Cancer.2017;[Epub] CrossRef - Clinicopathologic implications of immune classification by PD-L1 expression and CD8-positive tumor-infiltrating lymphocytes in stage II and III gastric cancer patients
Jiwon Koh, Chan-Young Ock, Jin Won Kim, Soo Kyung Nam, Yoonjin Kwak, Sumi Yun, Sang-Hoon Ahn, Do Joong Park, Hyung-Ho Kim, Woo Ho Kim, Hye Seung Lee Oncotarget.2017; 8(16): 26356. CrossRef
- Analysis of Surgical Pathology Data in the HIRA Database: Emphasis on Current Status and Endoscopic Submucosal Dissection Specimens
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Sun-ju Byeon, Woo Ho Kim
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J Pathol Transl Med. 2016;50(3):204-210. Published online April 4, 2016
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DOI: https://doi.org/10.4132/jptm.2016.03.04
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8,585
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Abstract
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- Background
In Korea, medical institutions make claims for insurance reimbursement to the Health Insurance Review and Assessment Service (HIRA). Thus, HIRA databases reflect the general medical services that are provided in Korea. We conducted two pathology-related studies using a HIRA national patient sample (NPS) data (selection probability, 0.03). First, we evaluated the current status of general pathologic examination in Korea. Second, we evaluated pathologic issues associated with endoscopic submucosal dissection (ESD).
Methods The sample data used in this study was HIRA-NPS-2013-0094.
Results In the NPS dataset, 163,372 pathologic examinations were performed in 103,528 patients during the year 2013. Considering sampling weight (33.3), it is estimated that 5,440,288 (163,372 × 33.3) pathologic examinations were performed. Internal medicine and general surgery were the most common departments requesting pathologic examinations. The region performing pathologic examinations were different according to type of medical institution. In total, 490 patients underwent ESD, and 43.4% (213/490) underwent ESD due to gastric carcinoma. The results of the ESD led to a change in disease code for 10.5% (29/277) of non-gastric carcinoma patients. In addition, 21 patients (4.3%) underwent surgery following the ESD. The average period between ESD and surgery was 44 days.
Conclusions HIRA sample data provide the nation-wide landscape of specific procedure. However, in order to reduce the statistical error, further studies using entire HIRA data are needed.
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Citations
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- Impact of the COVID-19 Pandemic on Esophagogastroduodenoscopy and Gastric Cancer Claims in South Korea: A Nationwide, Population-Based Study
Min Ah Suh, Su Bee Park, Min Seob Kwak, Jin Young Yoon, Jae Myung Cha Yonsei Medical Journal.2023; 64(9): 549. CrossRef - Using big data to see the forest and the trees: endoscopic submucosal dissection of early gastric cancer in Korea
Chang Seok Bang, Gwang Ho Baik The Korean Journal of Internal Medicine.2019; 34(4): 772. CrossRef - Current Status of Pathologic Examinations in Korea, 2011–2015, Based on the Health Insurance Review and Assessment Service Dataset
Sun-ju Byeon Journal of Pathology and Translational Medicine.2017; 51(2): 137. CrossRef
- Proposal for a Standardized Pathology Report of Gastroenteropancreatic Neuroendocrine Tumors: Prognostic Significance of Pathological Parameters
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Mee-Yon Cho, Jin Hee Sohn, So Young Jin, Hyunki Kim, Eun Sun Jung, Mi-Jung Kim, Kyoung-Mee Kim, Woo Ho Kim, Joon Mee Kim, Yun Kyung Kang, Joon Hyuk Choi, Dae Young Kang, Youn Wha Kim, Eun Hee Choi
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Korean J Pathol. 2013;47(3):227-237. Published online June 25, 2013
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DOI: https://doi.org/10.4132/KoreanJPathol.2013.47.3.227
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14,112
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Abstract
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- Background
There is confusion in the diagnosis and biological behaviors of gastroenteropancreatic neuroendocrine tumors (GEP-NETs), because of independently proposed nomenclatures and classifications. A standardized form of pathology report is required for the proper management of patients. MethodsWe discussed the proper pathological evaluation of GEP-NET at the consensus conference of the subcommittee meeting for the Gastrointestinal Pathology Study Group of the Korean Society of Pathologists. We then verified the prognostic significance of pathological parameters from our previous nationwide collection of pathological data from 28 hospitals in Korea to determine the essential data set for a pathology report. ResultsHistological classification, grading (mitosis and/or Ki-67 labeling index), T staging (extent, size), lymph node metastasis, and lymphovascular and perineural invasion were significant prognostic factors and essential for the pathology report of GEP-NET, while immunostaining such as synaptophysin and chromogranin may be optional. Furthermore, the staging system, either that of the 2010 American Joint Cancer Committee (AJCC) or the European Neuroendocrine Tumor Society (ENETS), should be specified, especially for pancreatic neuroendocrine neoplasms. ConclusionsA standardized pathology report is crucial for the proper management and prediction of prognosis of patients with GEP-NET.
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- Analysis of Prognostic Risk Factors of Endoscopic Submucosal Dissection (ESD) and Curative Resection of Gastrointestinal Neuroendocrine Neoplasms
Yuan Si, ChaoKang Huang, JingBin Yuan, XianHui Zhang, QingQiang He, ZhiJin Lin, Ling He, ZhongXin Liu, Yuvaraja Teekaraman Contrast Media & Molecular Imaging.2022;[Epub] CrossRef - Standardization of the pathologic diagnosis of appendiceal mucinous neoplasms
Dong-Wook Kang, Baek-hui Kim, Joon Mee Kim, Jihun Kim, Hee Jin Chang, Mee Soo Chang, Jin-Hee Sohn, Mee-Yon Cho, So-Young Jin, Hee Kyung Chang, Hye Seung Han, Jung Yeon Kim, Hee Sung Kim, Do Youn Park, Ha Young Park, So Jeong Lee, Wonae Lee, Hye Seung Lee, Journal of Pathology and Translational Medicine.2021; 55(4): 247. CrossRef - Preoperative diagnosis of well‐differentiated neuroendocrine tumor in common hepatic duct by brush cytology: A case report
Jiwoon Choi, Kyong Joo Lee, Sung Hoon Kim, Mee‐Yon Cho Diagnostic Cytopathology.2019; 47(7): 720. CrossRef - Primary renal well-differentiated neuroendocrine tumors: report of six cases with an emphasis on the Ki-67 index and mitosis
Bohyun Kim, Han-Seong Kim, Kyung Chul Moon Diagnostic Pathology.2019;[Epub] CrossRef - Primary low‐grade neuroendocrine carcinoma of the skin: An exceedingly rare entity
Tiffany Y. Chen, Annie O. Morrison, Joe Susa, Clay J. Cockerell Journal of Cutaneous Pathology.2017; 44(11): 978. CrossRef - Prognostic Validity of the American Joint Committee on Cancer and the European Neuroendocrine Tumors Staging Classifications for Pancreatic Neuroendocrine Tumors
Jae Hee Cho, Ji Kon Ryu, Si Young Song, Jin-Hyeok Hwang, Dong Ki Lee, Sang Myung Woo, Young-Eun Joo, Seok Jeong, Seung-Ok Lee, Byung Kyu Park, Young Koog Cheon, Jimin Han, Tae Nyeun Kim, Jun Kyu Lee, Sung-Hoon Moon, Hyunjin Kim, Eun Taek Park, Jae Chul Hw Pancreas.2016; 45(7): 941. CrossRef - Early diagnosis and treatment of gastrointestinal neuroendocrine tumors
Hong Shen, Zhuo Yu, Jing Zhao, Xiu-Zhen Li, Wen-Sheng Pan Oncology Letters.2016; 12(5): 3385. CrossRef - Recent Updates on Neuroendocrine Tumors From the Gastrointestinal and Pancreatobiliary Tracts
Joo Young Kim, Seung-Mo Hong Archives of Pathology & Laboratory Medicine.2016; 140(5): 437. CrossRef - Pancreatic neuroendocrine tumors: Correlation between the contrast-enhanced computed tomography features and the pathological tumor grade
Koji Takumi, Yoshihiko Fukukura, Michiyo Higashi, Junnichi Ideue, Tomokazu Umanodan, Hiroto Hakamada, Ichiro Kanetsuki, Takashi Yoshiura European Journal of Radiology.2015; 84(8): 1436. CrossRef - Tumeurs neuroendocrines du tube digestif et du pancréas : ce que le pathologiste doit savoir et doit faire en 2014
Jean-Yves Scoazec, Anne Couvelard Annales de Pathologie.2014; 34(1): 40. CrossRef - Spectrum of Gastroenteropancreatic NENs in Routine Histological Examinations of Bioptic and Surgical Specimen: A Study of 161 Cases Collected from 17 Departments of Pathology in the Czech Republic
Václav Mandys, Tomáš Jirásek Gastroenterology Research and Practice.2014; 2014: 1. CrossRef - p27 Loss Is Associated with Poor Prognosis in Gastroenteropancreatic Neuroendocrine Tumors
Hee Sung Kim, Hye Seung Lee, Kyung Han Nam, Jiwoon Choi, Woo Ho Kim Cancer Research and Treatment.2014; 46(4): 383. CrossRef
- Markers for Screening Lynch Syndrome Are Reliable and Useful for Identifying the Specimen Mislabeling
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Sun-ju Byeon, Jiwoon Choi, Kyung Han Nam, Bo-Gun Jang, Hee Eun Lee, Min A Kim, Woo Ho Kim
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Korean J Pathol. 2012;46(2):131-136. Published online April 25, 2012
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DOI: https://doi.org/10.4132/KoreanJPathol.2012.46.2.131
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Abstract
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- Background
During specimen processing in surgical pathology laboratories, specimen-related adverse events (SRAEs), such as mislabeling and specimen mixed-up might occur. In these situations, molecular techniques using short tandem repeat (STR) loci are required to identify the personal identity. Microsatellite instability (MSI) test is widely used for screening the hereditary non-polyposis colon cancer (Lynch syndrome) in surgical pathologies using polymorphic STR markers. We tried to evaluate the applicability of the MSI test for SRAEs. MethodsWe obtained 253 MSI test results to analyze the allele frequencies. After calibrating the estimated nucleotide lengths, we calculated the allele frequencies, a random match probability, and a likelihood ratio (LR) of three dinucleotide STR markers (D5S349, D17S250, and D2S123). ResultsThe distribution of LR was 136.38 to 5,606,213.10. There was no case of LR<100. In addition, there were 153 cases (60.5%) of LR ranging from 100 to 10,000 and 100 cases (39.5%) of LR>10,000. Furthermore, the combined probability of identity was 9.23×10-4 and the combined power of exclusion was 0.99908. ConclusionsUsing the three STR markers that are recommended for MSI test, all the cases were positively identified in 1% range and about one-third cases showed high LR (>10,000). These results showed that MSI tests are useful to screen the personal identity in case of SRAE in pathology laboratories.
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