- BRCA-mutated gastric adenocarcinomas are associated with chromosomal instability and responsiveness to platinum-based chemotherapy
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Ji Hyun Oh, Chang Ohk Sung, Hyung-Don Kim, Sung-Min Chun, Jihun Kim
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J Pathol Transl Med. 2023;57(6):323-331. Published online November 14, 2023
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DOI: https://doi.org/10.4132/jptm.2023.10.22
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Abstract
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- Background
Homologous recombination defect is an important biomarker of chemotherapy in certain tumor types, and the presence of pathogenic or likely pathogenic mutations involving BRCA1 or BRCA2 (p-BRCA) mutations is the most well-established marker for the homologous recombination defect. Gastric cancer, one of the most prevalent tumor types in Asia, also harbors p-BRCA mutations.
Methods To investigate the clinical significance of p-BRCA mutations, we analyzed 366 gastric cancer cases through next-generation sequencing. We determined the zygosity of p-BRCA mutations based on the calculated tumor purity through variant allelic fraction patterns and investigated whether the presence of p-BRCA mutations is associated with platinum-based chemotherapy and a certain molecular subtype.
Results Biallelic p-BRCA mutation was associated with better response to platinum-based chemotherapy than heterozygous p-BRCA mutation or wild type BRCA genes. The biallelic p-BRCA mutations was observed only in the chromosomal instability subtype, while all p-BRCA mutations were heterozygous in microsatellite instability subtype.
Conclusions In conclusion, patients with gastric cancer harboring biallelic p-BRCA mutations were associated with a good initial response to platinum-based chemotherapy and those tumors were exclusively chromosomal instability subtype. Further investigation for potential association with homologous recombination defect is warranted.
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- Risk prediction criteria for the primary hepatic perivascular epithelioid cell tumour family, including angiomyolipoma: analysis of 132 cases with a literature review
Youngeun Yoo, Jihun Kim, In Hye Song Histopathology.2025; 86(6): 979. CrossRef - Presence of RB1 or Absence of LRP1B Mutation Predicts Poor Overall Survival in Patients with Gastric Neuroendocrine Carcinoma and Mixed Adenoneuroendocrine Carcinoma
In Hye Song, Bokyung Ahn, Young Soo Park, Deok Hoon Kim, Seung-Mo Hong Cancer Research and Treatment.2025; 57(2): 492. CrossRef - Artificial intelligence algorithm for neoplastic cell percentage estimation and its application to copy number variation in urinary tract cancer
Jinahn Jeong, Deokhoon Kim, Yeon-Mi Ryu, Ja-Min Park, Sun Young Yoon, Bokyung Ahn, Gi Hwan Kim, Se Un Jeong, Hyun-Jung Sung, Yong Il Lee, Sang-Yeob Kim, Yong Mee Cho Journal of Pathology and Translational Medicine.2024; 58(5): 229. CrossRef
- Clinical Utility of a Fully Automated Microsatellite Instability Test with Minimal Hands-on Time
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Miseon Lee, Sung-Min Chun, Chang Ohk Sung, Sun Y. Kim, Tae W. Kim, Se Jin Jang, Jihun Kim
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J Pathol Transl Med. 2019;53(6):386-392. Published online October 11, 2019
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DOI: https://doi.org/10.4132/jptm.2019.09.25
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Abstract
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- Background
Microsatellite instability (MSI) analysis is becoming increasingly important in many types of tumor including colorectal cancer (CRC). The commonly used MSI tests are either time-consuming or labor-intensive. A fully automated MSI test, the Idylla MSI assay, has recently been introduced. However, its diagnostic performance has not been extensively validated in clinical CRC samples.
Methods We evaluated 133 samples whose MSI status had been rigorously validated by standard polymerase chain reaction (PCR), clinical nextgeneration sequencing (NGS) cancer panel test, or both. We evaluated the diagnostic performance of the Idylla MSI assay in terms of sensitivity, specificity, and positive and negative predictive values, as well as various sample requirements, such as minimum tumor purity and the quality of paraffin blocks.
Results Compared with the gold standard results confirmed through both PCR MSI test and NGS, the Idylla MSI assay showed 99.05% accuracy (104/105), 100% sensitivity (11/11), 98.94% specificity (93/94), 91.67% positive predictive value (11/12), and 100% negative predictive value (93/93). In addition, the Idylla MSI assay did not require macro-dissection in most samples and reliably detected MSI-high in samples with approximately 10% tumor purity. The total turnaround time was about 150 minutes and the hands-on time was less than 2 minutes.
Conclusions The Idylla MSI assay shows good diagnostic performance that is sufficient for its implementation in the clinic to determine the MSI status of at least the CRC samples. In addition, the fully automated procedure requires only a few slices of formalin-fixed paraffin-embedded tissue and might greatly save time and labor.
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- Leveraging Radiomics and Hybrid Quantum–Classical Convolutional Networks for Non-Invasive Detection of Microsatellite Instability in Colorectal Cancer
T. Buvaneswari, M. Ramkumar, Prabhu Venkatesan, R. Sarath Kumar Molecular Imaging and Biology.2025; 27(2): 227. CrossRef - Molecular Profiling of H-MSI/dMMR/for Endometrial Cancer Patients: “New Challenges in Diagnostic Routine Practice”
Riccardo Adorisio, Giancarlo Troncone, Massimo Barberis, Francesco Pepe Journal of Molecular Pathology.2024; 5(2): 187. CrossRef - Enhanced Commendable Sensitivity and Specificity for MSI in Colorectal Cancer by a New PCR‐HRM Based 8‐Loci MSI Assay
Xueping Xiang, Xiaojing Ma, Linlin Ying, Hong Zou Journal of Clinical Laboratory Analysis.2024;[Epub] CrossRef - Endometriumkarzinom: molekulare Klassifikation in der Routinepathologie
Udo Siebolts, Birgid Schömig-Markiefka, Janna Siemanowski-Hrach, Sabine Merkelbach-Bruse Die Pathologie.2024; 45(5): 347. CrossRef - Integration of rapid PCR testing as an adjunct to NGS in diagnostic pathology services within the UK: evidence from a case series of non-squamous, non-small cell lung cancer (NSCLC) patients with follow-up
Alison Finall, Gareth Davies, Trevor Jones, Gwion Emlyn, Pearl Huey, Anna Mullard Journal of Clinical Pathology.2023; 76(6): 391. CrossRef - Analytical Validation and Clinical Utilization of the Oncomine Comprehensive Assay Plus Panel for Comprehensive Genomic Profiling in Solid Tumors
Catherine I. Dumur, Ramakrishnan Krishnan, Jorge A. Almenara, Kathleen E. Brown, Kailyn R. Dugan, Christiana Farni, Fatima Z. Ibrahim, Naomi A. Sanchez, Sumra Rathore, Dinesh Pradhan, Jonathan H. Hughes Journal of Molecular Pathology.2023; 4(2): 109. CrossRef - Performance of Immunohistochemical and Molecular Methods in Detecting Microsatellite Instability in Gastric Cancer: A Multicenter Study
Diogo Sousa Marques, Irene Gullo, Luís Mascarenhas-Lemos, João Ricardo Silva, Catarina Neto do Nascimento, Patrícia Pontes, Lídia Pinho, Luis Cirnes, Xiaogang Wen, Marília Cravo, Fátima Carneiro Pathobiology.2023; 90(6): 389. CrossRef - Diagnostic mutationnel rapide Idylla™ : applications théranostiques actuelles et futures
Amélie Bourhis, Annabelle Remoué, Laura Samaison, Arnaud Uguen Annales de Pathologie.2022; 42(4): 329. CrossRef - Comparison of the Idylla™ MSI assay with the Promega™ MSI Analysis System and immunohistochemistry on formalin-fixed paraffin-embedded tissue of endometrial carcinoma: results from an international, multicenter study
Sonia Gatius, Ana Velasco, Mar Varela, Miriam Cuatrecasas, Pedro Jares, Lisa Setaffy, Benjamin Bonhomme, Almudena Santon, Kristina Lindemann, Sabrina Croce, Ben Davidson, Sigurd Lax, Jose Palacios, Xavier Matias-Guiu Virchows Archiv.2022; 480(5): 1031. CrossRef - Idylla MSI test combined with immunohistochemistry is a valuable and cost effective strategy to search for microsatellite instable tumors of noncolorectal origin
Laura Samaison, Arnaud Uguen Pathology International.2022; 72(4): 234. CrossRef - Detection of microsatellite instability in a panel of solid tumours with the Idylla MSI Test using extracted DNA
Adrien Pécriaux, Loetitia Favre, Julien Calderaro, Cécile Charpy, Jonathan Derman, Anaïs Pujals Journal of Clinical Pathology.2021; 74(1): 36. CrossRef - Idylla microsatellite instability assay versus mismatch repair immunohistochemistry: a retrospective comparison in gastric adenocarcinoma
Luke Farmkiss, Ilona Hopkins, Mary Jones Journal of Clinical Pathology.2021; 74(9): 604. CrossRef - Multi-center real-world comparison of the fully automated Idylla™ microsatellite instability assay with routine molecular methods and immunohistochemistry on formalin-fixed paraffin-embedded tissue of colorectal cancer
Ana Velasco, Fatma Tokat, Jesper Bonde, Nicola Trim, Elisabeth Bauer, Adam Meeney, Wendy de Leng, George Chong, Véronique Dalstein, Lorand L. Kis, Jon A. Lorentzen, Snjezana Tomić, Keeley Thwaites, Martina Putzová, Astrid Birnbaum, Romena Qazi, Vanessa Pr Virchows Archiv.2021; 478(5): 851. CrossRef - Detection of microsatellite instability with Idylla MSI assay in colorectal and endometrial cancer
Iiris Ukkola, Pirjo Nummela, Annukka Pasanen, Mia Kero, Anna Lepistö, Soili Kytölä, Ralf Bützow, Ari Ristimäki Virchows Archiv.2021; 479(3): 471. CrossRef - Managing Difficulties of Microsatellite Instability Testing in Endometrial Cancer-Limitations and Advantages of Four Different PCR-Based Approaches
Janna Siemanowski, Birgid Schömig-Markiefka, Theresa Buhl, Anja Haak, Udo Siebolts, Wolfgang Dietmaier, Norbert Arens, Nina Pauly, Beyhan Ataseven, Reinhard Büttner, Sabine Merkelbach-Bruse Cancers.2021; 13(6): 1268. CrossRef - Evaluation of Micro Satellite Instability and Mismatch Repair Status in Different Solid Tumors: A Multicenter Analysis in a Real World Setting
Umberto Malapelle, Paola Parente, Francesco Pepe, Caterina De Luca, Pasquale Pisapia, Roberta Sgariglia, Mariantonia Nacchio, Gianluca Gragnano, Gianluca Russo, Floriana Conticelli, Claudio Bellevicine, Elena Vigliar, Antonino Iaccarino, Claudia Covelli, Cells.2021; 10(8): 1878. CrossRef - Novel Biocartis Idylla™ cartridge-based assay for detection of microsatellite instability in colorectal cancer tissues
Andres E. Mindiola-RomeroMD, Donald C. GreenBS, M. Rabie Al-TurkmaniPhD, Kelley N. GodwinBS, Anna C. MackayBS, Laura J. TafeMD, Bing RenMD, Gregory J. TsongalisPhD Experimental and Molecular Pathology.2020; 116: 104519. CrossRef - Evaluation of 3 molecular-based assays for microsatellite instability detection in formalin-fixed tissues of patients with endometrial and colorectal cancers
Pauline Gilson, Julien Levy, Marie Rouyer, Jessica Demange, Marie Husson, Céline Bonnet, Julia Salleron, Agnès Leroux, Jean-Louis Merlin, Alexandre Harlé Scientific Reports.2020;[Epub] CrossRef
- Overexpression of C-reactive Protein as a Poor Prognostic Marker of Resectable Hepatocellular Carcinomas
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Jin Ho Shin, Chong Jai Kim, Eun Jeong Jeon, Chang Ohk Sung, Hwa Jeong Shin, Jene Choi, Eunsil Yu
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J Pathol Transl Med. 2015;49(2):105-111. Published online March 12, 2015
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DOI: https://doi.org/10.4132/jptm.2015.01.19
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Abstract
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- Background
C-reactive protein (CRP) is an acute phase reactant synthesized in the liver. CRP immunoreactivity is a feature of inflammatory hepatocellular adenomas with a higher risk of malignant transformation. A high serum CRP level denotes poor prognosis in hepatocellular carcinoma (HCC) patients. This study was conducted to determine whether CRP is produced in HCC and to assess the clinicopathologic significance of CRP expression in cancer cells. Methods: CRP immunoreactivity was examined in treatment-naïve HCCs (n=224) using tissue microarrays and was correlated with clinicopathologic parameters. The expression of CRP mRNA and protein was also assessed in 12 HCC cases by quantitative real-time polymerase chain reaction and immunoblotting. Hep3B and SNU-449 HCC cell lines were used for the analysis of CRP mRNA regulation by interleukin 6 (IL-6). Results: CRP was expressed in 133 of 224 HCCs (59.4%) with a variable degree of immunoreactivity (grade 1 in 25.9%; grade 2 in 20.1%; grade 3 in 13.4%). There was an inverse relationship between grade 3 CRP immunoreactivity and cancer-specific survival (p=.0047), while no associations were found with other parameters, including recurrence-free survival. The CRP mRNA expression level was significantly higher in CRP immunopositive cases than in immunonegative cases (p<.05). CRP mRNA expression was increased in Hep3B cells, but was not detected in SNU-449 cells even after IL-6 treatment. Conclusions: We report the expression of CRP in HCC for the first time. CRP expression was associated with poor cancer-specific survival in patients with resectable HCC.
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Céline Julien, Brigitte Le Bail, Laurence Chiche, Charles Balabaud, Paulette Bioulac-Sage JHEP Reports.2022; 4(3): 100430. CrossRef - Effect of Treatment with Colchicine after Acute Coronary Syndrome on Major Cardiovascular Events: A Systematic Review and Meta-Analysis of Clinical Trials
Erfan Razavi, Akam Ramezani, Asma Kazemi, Armin Attar, Baohui Xu Cardiovascular Therapeutics.2022; 2022: 1. CrossRef - Steatotic and Steatohepatitic Hepatocellular Carcinomas
Umut Aykutlu, Asuman Argon, Mehmet Orman, Sezgin Ulukaya, Murat Zeytunlu, Zeki Karasu, Fulya Günşar, Deniz Nart, Ulus Akarca, Funda Yilmaz American Journal of Surgical Pathology.2021; 45(9): 1252. CrossRef - Cytochrome P450 4A11 expression in tumor cells: A favorable prognostic factor for hepatocellular carcinoma patients
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Amit Kumar Ram, Biju Pottakat, Balasubramaniyan Vairappan BMC Cancer.2018;[Epub] CrossRef - C-reactive Protein Overexpression in the Background Liver of Hepatitis B Virus–Associated Hepatocellular Carcinoma Is a Prognostic Biomarker
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Yasunari Hiramine, Hirofumi Uto, Yasushi Imamura, Takuya Hiwaki, Takeshi Kure, Sho Ijuin, Kohei Oda, Seiichi Mawatari, Kotaro Kumagai, Koki Tokunaga, Hirofumi Higashi, Ichiro Kanetsuki, Osamu Kubozono, Shigeho Maenohara, Akio Ido Hepatology Research.2017; 47(6): 542. CrossRef - Elevated CRP levels predict poor outcome and tumor recurrence in patients with thymic epithelial tumors: A pro- and retrospective analysis
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- Accuracy of Core Needle Biopsy Versus Fine Needle Aspiration Cytology for Diagnosing Salivary Gland Tumors
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In Hye Song, Joon Seon Song, Chang Ohk Sung, Jong-Lyel Roh, Seung-Ho Choi, Soon Yuhl Nam, Sang Yoon Kim, Jeong Hyun Lee, Jung Hwan Baek, Kyung-Ja Cho
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J Pathol Transl Med. 2015;49(2):136-143. Published online March 12, 2015
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DOI: https://doi.org/10.4132/jptm.2015.01.03
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- Background
Core needle biopsy is a relatively new technique used to diagnose salivary gland lesions, and its role in comparison with fine needle aspiration cytology needs to be refined. Methods: We compared the results of 228 ultrasound-guided core needle biopsy and 371 fine needle aspiration procedures performed on major salivary gland tumors with their postoperative histological diagnoses. Results: Core needle biopsy resulted in significantly higher sensitivity and more accurate tumor subtyping, especially for malignant tumors, than fine needle aspiration. No patient developed major complications after core needle biopsy. Conclusions: We recommend ultrasoundguided core needle biopsy as the primary diagnostic tool for the preoperative evaluation of patients with salivary gland lesions, especially when malignancy is suspected.
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Soomin Ahn, Jae Jun Lee, Sang Yun Ha, Chang Ohk Sung, Jhingook Kim, Joungho Han
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Abstract
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- Background
Thymic neuroendocrine carcinomas (NECs) are uncommon, for which there is no established information available because of a limited number of epidemiological study in Asia. MethodsWe reviewed 21 cases of surgically resected thymic NECs, and evaluated their pathological and clinical features. ResultsIt showed male predominance (male/female ratio, 15/6) with wide age range from 20 to 72 years (mean age, 49 years). All 21 cases were divided into two types according to the World Health Organization criteria: atypical carcinoid (n=18) and large cell NEC (n=3). Three cases of atypical carcinoid (AC) were associated with ectopic Cushing's syndrome. All the patients (3/3) with large cell NEC (3/3) and 16.7% (3/18) of those with AC died of tumor progression. Common sites of metastasis included lung, lymph node, brain, lumbar spine, mediastinum, bone, and liver. ConclusionsIn conclusion, thymic neuroendocrine tumors carry a poor prognosis. Regarding the tumor classification, our results showed that a vast majority of carcinoids in the thymus correspond to ACs. In addition, our results also indicate that typical carcinoid is a very rare entity. Some cases of AC exhibited a large size, solid pattern and they showed aggressive clinical behavior, which highlights the spectrum of histologic appearances of thymic NECs.
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