Journal of Pathology and Translational Medicine

Review

Lymphoproliferative disorder involving body fluid: diagnostic approaches and roles of ancillary studies: Jiwon Koh, Sun Ah Shin, Ji Ae Lee, Yoon Kyung Jeon; J Pathol Transl Med. 2022;56(4):173-186. Published online July 4, 2022; DOI: https://doi.org/10.4132/jptm.2022.05.16

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Lymphocyte-rich effusions represent benign reactive process or neoplastic condition. Involvement of lymphoproliferative disease in body cavity is not uncommon, and it often causes diagnostic challenge. In this review, we suggest a practical diagnostic approach toward lymphocyte-rich effusions, share representative cases, and discuss the utility of ancillary tests. Cytomorphologic features favoring neoplastic condition include high cellularity, cellular atypia/pleomorphism, monomorphic cell population, and frequent apoptosis, whereas lack of atypia, polymorphic cell population, and predominance of small T cells usually represent benign reactive process. Involvement of non-hematolymphoid malignant cells in body fluid should be ruled out first, followed by categorization of the samples into either small/medium-sized cell dominant or large-sized cell dominant fluid. Small/medium-sized cell dominant effusions require ancillary tests when either cellular atypia or history/clinical suspicion of lymphoproliferative disease is present. Large-sized cell dominant effusions usually suggest neoplastic condition, however, in the settings of initial presentation or low overall cellularity, ancillary studies are helpful for more clarification. Ancillary tests including immunocytochemistry, in situ hybridization, clonality test, and next-generation sequencing can be performed using cytologic preparations. Throughout the diagnostic process, proper review of clinical history, cytomorphologic examination, and application of adequate ancillary tests are key elements for successful diagnosis.

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The urgency of Burkitt lymphoma diagnosis in fluid cytology—A tertiary care experience
Soundarya Ravi, Anu K. Devi, Prabhu Manivannan, Debasis Gochhait, Rakhee Kar, Neelaiah Siddaraju
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Immunocytochemistry on frozen-embedded cell block for the diagnosis of hematolymphoid cytology specimen: a straightforward alternative to the conventional cell block
Youjeong Seo, Sanzida Alam Prome, Lucia Kim, Jee Young Han, Joon Mee Kim, Suk Jin Choi
Journal of Hematopathology.2024; 17(1): 1. CrossRef
Lymphoma presenting as the first finding in pleural fluid cytology: A rare cytologic presentation
Kafil Akhtar, Gowthami Nagendhran, Anjum Ara, Masheera Akhtar
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Original Articles

Clinical Utility of a Fully Automated Microsatellite Instability Test with Minimal Hands-on Time: Miseon Lee, Sung-Min Chun, Chang Ohk Sung, Sun Y. Kim, Tae W. Kim, Se Jin Jang, Jihun Kim; J Pathol Transl Med. 2019;53(6):386-392. Published online October 11, 2019; DOI: https://doi.org/10.4132/jptm.2019.09.25

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Abstract PDF Supplementary Material

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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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

Higher Expression of Toll-like Receptors 3, 7, 8, and 9 in Pityriasis Rosea: Mostafa Abou El-Ela, Mohamed El-Komy, Rania Abdel Hay, Rehab Hegazy, Amin Sharobim, Laila Rashed, Khalda Amr; J Pathol Transl Med. 2017;51(2):148-151. Published online February 13, 2017; DOI: https://doi.org/10.4132/jptm.2016.09.09

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Abstract PDF

Background
Pityriasis rosea (PR) is a common papulosquamous skin disease in which an infective agent may be implicated. Toll-like receptors (TLRs) play an important role in immune responses and in the pathophysiology of inflammatory skin diseases. Our aim was to determine the possible roles of TLRs 3, 7, 8, and 9 in the pathogenesis of PR. Methods: Twenty-four PR patients and 24 healthy individuals (as controls) were included in this case control study. All recruits were subjected to routine laboratory investigations. Biopsies were obtained from one active PR lesion and from healthy skin of controls for the detection of TLR 3, 7, 8, and 9 gene expression using real-time polymerase chain reaction. Results: This study included 24 patients (8 females and 16 males) with active PR lesions, with a mean age of 28.62 years. Twenty four healthy age- and sex-matched individuals were included as controls (8 females and 16 males, with a mean age of 30.83 years). The results of the routine laboratory tests revealed no significant differences between both groups. Significantly elevated expression of all studied TLRs were detected in PR patients relative to healthy controls (p < .001). Conclusions: TLRs 3, 7, 8, and 9 might be involved in the pathogenesis of PR.

Citations

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Toll-like Receptor-Mediated Immunomodulation of Th1-Type Response Stimulated by Recombinant Antigen of Type 2 Porcine Reproductive and Respiratory Syndrome Virus (PRRSV-2)
Rika Wahyuningtyas, Mei-Li Wu, Wen-Bin Chung, Hso-Chi Chaung, Ko-Tung Chang
Viruses.2023; 15(3): 775. CrossRef
Pityriasis Rosea: An Updated Review
Alexander K.C. Leung, Joseph M. Lam, Kin Fon Leong, Kam Lun Hon
Current Pediatric Reviews.2021; 17(3): 201. CrossRef
Double-blind randomized placebo-controlled trial to evaluate the efficacy and safety of short-course low-dose oral prednisolone in pityriasis rosea
Sidharth Sonthalia, Akshy Kumar, Vijay Zawar, Adity Priya, Pravesh Yadav, Sakshi Srivastava, Atula Gupta
Journal of Dermatological Treatment.2018; 29(6): 617. CrossRef

Does Polymerase Chain Reaction of Tissue Specimens Aid in the Diagnosis of Tuberculosis?: Yoo Jin Lee, Seojin Kim, Youngjin Kang, Jiyoon Jung, Eunjung Lee, Joo-Young Kim, Jeong Hyeon Lee, Youngseok Lee, Yang-seok Chae, Chul Hwan Kim; J Pathol Transl Med. 2016;50(6):451-458. Published online October 10, 2016; DOI: https://doi.org/10.4132/jptm.2016.08.04

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Abstract PDF

Background
Mycobacterial culture is the gold standard test for diagnosing tuberculosis (TB), but it is time-consuming. Polymerase chain reaction (PCR) is a highly sensitive and specific method that can reduce the time required for diagnosis. The diagnostic efficacy of PCR differs, so this study determined the actual sensitivity of TB-PCR in tissue specimens.
Methods
We retrospectively reviewed 574 cases. The results of the nested PCR of the IS6110 gene, mycobacterial culture, TB-specific antigen-induced interferon-γ release assay (IGRA), acid-fast bacilli (AFB) staining, and histological findings were evaluated.
Results
The positivity rates were 17.6% for PCR, 3.3% for the AFB stain, 22.2% for mycobacterial culture, and 55.4% for IGRA. PCR had a low sensitivity (51.1%) and a high specificity (86.3%) based on the culture results of other studies. The sensitivity was higher (65.5%) in cases with necrotizing granuloma but showed the highest sensitivity (66.7%) in those with necrosis only. The concordance rate between the methods indicated that PCR was the best method compared to mycobacterial culture, and the concordance rate increased for the methods using positive result for PCR or histologic features.
Conclusions
PCR of tissue specimens is a good alternative to detect tuberculosis, but it may not be as sensitive as previously suggested. Its reliability may also be influenced by some histological features. Our data showed a higher sensitivity when specimens contained necrosis, which indicated that only specimens with necrosis should be used for PCR to detect tuberculosis.

Citations

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The Need for Persistence in the Diagnosis of Mycobacterium Tuberculosis Mono-arthritis: A Unique Case Presentation
T. Bekoulis, P. Christodoulou, K. Dogramatzis, E. Markopoulou, Emmanouel Antonogiannakis, E. Kokkinakis, Alexandros P. Apostolopoulos, A. Manimanaki
Journal of Long-Term Effects of Medical Implants.2024; 34(1): 35. CrossRef
A Case Report on Scrofuloderma: A Cutaneous Manifestation of Tuberculosis
Soham R Meghe, Adarshlata Singh, Drishti M Bhatt, Shreya N Gupta, Varun Hanumanthaiah, Shree Ramya Talasila
Cureus.2024;[Epub] CrossRef
An overview of infectious disease laboratory methods: an update for the histopathologist
Daniel R. Stevenson
Diagnostic Histopathology.2024; 30(10): 534. CrossRef
Diagnostic Utility of Biplex/Multiplex Polymerase Chain Reaction in Infectious Granulomatous Dermatitis in North Indian Population
Mayur Parkhi, Mukin Kumar S, Dipankar De, Rakesh Yadav, Sunil Sethi, Bishan Dass Radotra, Uma Nahar Saikia
The American Journal of Dermatopathology.2021; 43(8): 567. CrossRef
Reduction of turnaround time for non-tuberculous mycobacteria detection in heater–cooler units by propidium monoazide–real-time polymerase chain reaction
S. Ditommaso, M. Giacomuzzi, G. Memoli, R. Cavallo, A. Curtoni, M. Avolio, C. Silvestre, C.M. Zotti
Journal of Hospital Infection.2020; 104(3): 365. CrossRef
Ergonomic Diagnostic Tool based on Chip Mini RT-PCR for Diagnosis of Pulmonary and Extra Pulmonary Tuberculosis
V Mangayarkarasi, Sneka P, Sujith R, Jayaprakash Jayaprakash
Journal of Pure and Applied Microbiology.2019; 13(2): 1185. CrossRef
Cutaneous Tuberculosis: Clinicopathologic Arrays and Diagnostic Challenges
Priyatam Khadka, Soniya Koirala, Januka Thapaliya
Dermatology Research and Practice.2018; 2018: 1. CrossRef
Utility of Real-Time Quantitative Polymerase Chain Reaction in DetectingMycobacterium tuberculosis
Zhongquan Lv, Mingxin Zhang, Hui Zhang, Xinxin Lu
BioMed Research International.2017; 2017: 1. CrossRef
Primary Appendicular Tuberculosis
Vipul D Yagnik
Gastroenterology & Hepatology: Open Access.2017;[Epub] CrossRef

Detection of Human Papillomavirus in Korean Breast Cancer Patients by Real-Time Polymerase Chain Reaction and Meta-Analysis of Human Papillomavirus and Breast Cancer: Jinhyuk Choi, Chungyeul Kim, Hye Seung Lee, Yoo Jin Choi, Ha Yeon Kim, Jinhwan Lee, Hyeyoon Chang, Aeree Kim; J Pathol Transl Med. 2016;50(6):442-450. Published online October 10, 2016; DOI: https://doi.org/10.4132/jptm.2016.07.08

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Abstract PDF

Background
Human papillomavirus (HPV) is a well-established oncogenic virus of cervical, anogenital, and oropharyngeal cancer. Various subtypes of HPV have been detected in 0% to 60% of breast cancers. The roles of HPV in the carcinogenesis of breast cancer remain controversial. This study was performed to determine the prevalence of HPV-positive breast cancer in Korean patients and to evaluate the possibility of carcinogenic effect of HPV on breast.
Methods
Meta-analysis was performed in 22 case-control studies for HPV infection in breast cancer. A total of 123 breast cancers, nine intraductal papillomas and 13 nipple tissues of patients with proven cervical HPV infection were tested by real-time polymerase chain reaction to detect 28 subtypes of HPV. Breast cancers were composed of 106 formalin-fixed and paraffin embedded (FFPE) breast cancer samples and 17 touch imprint cytology samples of breast cancers.
Results
The overall odds ratio between breast cancer and HPV infection was 5.43 (95% confidence interval, 3.24 to 9.12) with I² = 34.5% in meta-analysis of published studies with case-control setting and it was statistically significant. HPV was detected in 22 cases of breast cancers (17.9%) and two cases of intaductal papillomas (22.2%). However, these cases had weak positivity.
Conclusions
These results failed to serve as significant evidence to support the relationship between HPV and breast cancer. Further study with larger epidemiologic population is merited to determine the relationship between HPV and breast cancer.

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Bacterial-Viral Interactions in Human Orodigestive and Female Genital Tract Cancers: A Summary of Epidemiologic and Laboratory Evidence
Ikuko Kato, Jilei Zhang, Jun Sun
Cancers.2022; 14(2): 425. CrossRef
Breast cancer association with oncogenic papillomaviruses: papillomaviral DNA detection in breast cancer cells
G. M. Volgareva
Advances in Molecular Oncology.2022; 9(2): 10. CrossRef
Presence of Human Papillomavirus DNA in Malignant Neoplasia and Non-Malignant Breast Disease
Erika Maldonado-Rodríguez, Marisa Hernández-Barrales, Adrián Reyes-López, Susana Godina-González, Perla I. Gallegos-Flores, Edgar L. Esparza-Ibarra, Irma E. González-Curiel, Jesús Aguayo-Rojas, Adrián López-Saucedo, Gretel Mendoza-Almanza, Jorge L. Ayala-
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Risk Role of Breast Cancer in Association with Human Papilloma Virus among Female Population in Taiwan: A Nationwide Population-Based Cohort Study
Chia-Hsin Liu, Chi-You Liao, Ming-Hsin Yeh, James Cheng-Chung Wei
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HPV-Associated Breast Cancer: Myth or Fact?
Erik Kudela, Eva Kudelova, Erik Kozubík, Tomas Rokos, Terezia Pribulova, Veronika Holubekova, Kamil Biringer
Pathogens.2022; 11(12): 1510. CrossRef
Assessment of Human Papillomavirus Infection and Risk Factors in Egyptian Women With Breast Cancer
Nabila El-Sheikh, Nahla O Mousa, Amany M Tawfeik, Alaa M Saleh, Iman Elshikh, Mohamed Deyab, Faten Ragheb, Manar M Moneer, Ahmed Kawashti, Ahmed Osman, Mohamed Elrefaei
Breast Cancer: Basic and Clinical Research.2021;[Epub] CrossRef
Human Papillomavirus (HPV) Detection by Chromogenic In Situ Hybridization (CISH) and p16 Immunohistochemistry (IHC) in Breast Intraductal Papilloma and Breast Carcinoma
Hua Guo, Juan P. Idrovo, Jin Cao, Sudarshana Roychoudhury, Pooja Navale, Louis J. Auguste, Tawfiqul Bhuiya, Silvat Sheikh-Fayyaz
Clinical Breast Cancer.2021; 21(6): e638. CrossRef
Human Papillomavirus in Breast Carcinogenesis: A Passenger, a Cofactor, or a Causal Agent?
Rancés Blanco, Diego Carrillo-Beltrán, Juan P. Muñoz, Alejandro H. Corvalán, Gloria M. Calaf, Francisco Aguayo
Biology.2021; 10(8): 804. CrossRef
Systematic review and meta-analysis of the papillomavirus prevalence in breast cancer fresh tissues
Geilson Gomes de Oliveira, Ana Katherine Gonçalves, José Eleutério, Luiz Gonzaga Porto Pinheiro
Breast Disease.2021; 41(1): 123. CrossRef
Is human papillomavirus associated with breast cancer or papilloma presenting with pathologic nipple discharge?
Fatih Levent Balci, Cihan Uras, Sheldon Marc Feldman
Cancer Treatment and Research Communications.2019; 19: 100122. CrossRef
Is the HPV virus responsible for the development of breast cancer?
Erik Kudela, Marcela Nachajova, Jan Danko
The Breast Journal.2019; 25(5): 1053. CrossRef
Absence of Human Papillomavirus in Benign and Malignant Breast Tissue
Maryam Kazemi Aghdam, Seyed Alireza Nadji, Azadeh Alvandimanesh, Maliheh Khoddami, Yassaman Khademi
Iranian Journal of Pathology.2019; 14(4): 279. CrossRef
Oncogenic Viruses and Breast Cancer: Mouse Mammary Tumor Virus (MMTV), Bovine Leukemia Virus (BLV), Human Papilloma Virus (HPV), and Epstein–Barr Virus (EBV)
James S. Lawson, Brian Salmons, Wendy K. Glenn
Frontiers in Oncology.2018;[Epub] CrossRef
Viral infections and breast cancer – A current perspective
O.M. Gannon, A. Antonsson, I.C. Bennett, N.A. Saunders
Cancer Letters.2018; 420: 182. CrossRef
Prevalence of EBV, HPV and MMTV in Pakistani breast cancer patients: A possible etiological role of viruses in breast cancer
Wasifa Naushad, Orooj Surriya, Hajra Sadia
Infection, Genetics and Evolution.2017; 54: 230. CrossRef

Comparison of Three BRAF Mutation Tests in Formalin-Fixed Paraffin Embedded Clinical Samples: Soomin Ahn, Jeeyun Lee, Ji-Youn Sung, So Young Kang, Sang Yun Ha, Kee-Taek Jang, Yoon-La Choi, Jung-Sun Kim, Young Lyun Oh, Kyoung-Mee Kim; Korean J Pathol. 2013;47(4):348-354. Published online August 26, 2013; DOI: https://doi.org/10.4132/KoreanJPathol.2013.47.4.348

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Abstract PDF

Background

Recently, BRAF inhibitors showed dramatic treatment outcomes in BRAF V600 mutant melanoma. Therefore, the accuracy of BRAF mutation test is critical.

Methods

BRAF mutations were tested by dual-priming oligonucleotide-polymerase chain reaction (DPO-PCR), direct sequencing and subsequently retested with a real-time PCR assay, cobas 4800 V600 mutation test. In total, 64 tumors including 34 malignant melanomas and 16 papillary thyroid carcinomas were analyzed. DNA was extracted from formalin-fixed paraffin embedded tissue samples and the results of cobas test were directly compared with those of DPO-PCR and direct sequencing.

Results

BRAF mutations were found in 23 of 64 (35.9%) tumors. There was 9.4% discordance among 3 methods. Out of 6 discordant cases, 4 cases were melanomas; 3 cases were BRAF V600E detected only by cobas test, but were not detected by DPO-PCR and direct sequencing. One melanoma patient with BRAF mutation detected only by cobas test has been on vemurafenib treatment for 6 months and showed a dramatic response to vemurafenib. DPO-PCR failed to detect V600K mutation in one case identified by both direct sequencing and cobas test.

Conclusions

In direct comparison of the currently available DPO-PCR, direct sequencing and real-time cobas test for BRAF mutation, real-time PCR assay is the most sensitive method.

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Kristine Zøylner Swan, Stine Horskær Madsen, Steen Joop Bonnema, Viveque Egsgaard Nielsen, Marie Louise Jespersen
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Kyueng-Whan Min, Ji-Young Choe, Mi Jung Kwon, Hye Kyung Lee, Ho Suk Kang, Eun Sook Nam, Seong Jin Cho, Hye-Rim Park, Soo Kee Min, Jinwon Seo, Yun Joong Kim, Nan Young Kim, Ho Young Kim
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The association between dermoscopic features and BRAF mutational status in cutaneous melanoma: Significance of the blue-white veil
Miquel Armengot-Carbó, Eduardo Nagore, Zaida García-Casado, Rafael Botella-Estrada
Journal of the American Academy of Dermatology.2018; 78(5): 920. CrossRef
Comparison of Five Different Assays for the Detection of BRAF Mutations in Formalin-Fixed Paraffin Embedded Tissues of Patients with Metastatic Melanoma
Claire Franczak, Julia Salleron, Cindy Dubois, Pierre Filhine-Trésarrieu, Agnès Leroux, Jean-Louis Merlin, Alexandre Harlé
Molecular Diagnosis & Therapy.2017; 21(2): 209. CrossRef
Validation of an NGS mutation detection panel for melanoma
Anne Reiman, Hugh Kikuchi, Daniela Scocchia, Peter Smith, Yee Wah Tsang, David Snead, Ian A Cree
BMC Cancer.2017;[Epub] CrossRef
Transformation to Small Cell Lung Cancer of Pulmonary Adenocarcinoma: Clinicopathologic Analysis of Six Cases
Soomin Ahn, Soo Hyun Hwang, Joungho Han, Yoon-La Choi, Se-Hoon Lee, Jin Seok Ahn, Keunchil Park, Myung-Ju Ahn, Woong-Yang Park
Journal of Pathology and Translational Medicine.2016; 50(4): 258. CrossRef
Immunohistochemistry with the anti-BRAF V600E (VE1) antibody: impact of pre-analytical conditions and concordance with DNA sequencing in colorectal and papillary thyroid carcinoma
Katerina Dvorak, Birte Aggeler, John Palting, Penny McKelvie, Andrew Ruszkiewicz, Paul Waring
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No Detection of Simian Virus 40 in Malignant Mesothelioma in Korea: Minseob Eom, Jamshid Abdul-Ghafar, Sun-Mi Park, Joung Ho Han, Soon Won Hong, Kun Young Kwon, Eun Suk Ko, Lucia Kim, Wan Seop Kim, Seung Yeon Ha, Kyo Young Lee, Chang Hun Lee, Hye Kyoung Yoon, Yoo Duk Choi, Myoung Ja Chung, Soon-Hee Jung; Korean J Pathol. 2013;47(2):124-129. Published online April 24, 2013; DOI: https://doi.org/10.4132/KoreanJPathol.2013.47.2.124

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Abstract PDF

Background

Simian virus 40 (SV40), a polyomavirus, was discovered as a contaminant of a human polio vaccine in the 1960s. It is known that malignant mesothelioma (MM) is associated with SV40, and that the virus works as a cofactor to the carcinogenetic effects of asbestos. However, the reports about the correlation between SV40 and MM have not been consistent. The purpose of this study is to identify SV40 in MM tissue in Korea through detection of SV40 protein and DNA.

Methods

We analyzed 62 cases of available paraffin-blocks enrolled through the Korean Malignant Mesothelioma Surveillance System and performed immunohistochemistry for SV40 protein and real-time polymerase chain reaction (PCR) for SV40 DNA.

Results

Of 62 total cases, 40 had disease involving the pleura (64.5%), and 29 (46.8%) were found to be of the epithelioid subtype. Immunostaining demonstrated that all examined tissues were negative for SV40 protein. Sufficient DNA was extracted for real-time PCR analysis from 36 cases. Quantitative PCR of these samples showed no increase in SV40 transcript compared to the negative controls.

Conclusions

SV40 is not associated with the development of MM in Korea.

Citations

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Association Study of Pleural Mesothelioma and Oncogenic Simian Virus 40 in the Crocidolite-Contaminated Area of Dayao County, Yunnan Province, Southwest China
Ru-ai Liu, Bo-yong Wang, Xin Chen, Yuan-qian Pu, Jia-ji Zi, Wen Mei, Ye-pin Zhang, Lu Qiu, Wei Xiong
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Binding of SV40’s Viral Capsid Protein VP1 to Its Glycosphingolipid Receptor GM1 Induces Negative Membrane Curvature: A Molecular Dynamics Study
Raisa Kociurzynski, Sophie D. Beck, Jean-Baptiste Bouhon, Winfried Römer, Volker Knecht
Langmuir.2019; 35(9): 3534. CrossRef
Estimated future incidence of malignant mesothelioma in South Korea: Projection from 2014 to 2033
Kyeong Min Kwak, Domyung Paek, Seung-sik Hwang, Young-Su Ju, Mark Allen Pershouse
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The function, mechanisms, and role of the genes PTEN and TP53 and the effects of asbestos in the development of malignant mesothelioma: a review focused on the genes' molecular mechanisms
Leonardo Vinícius Monteiro de Assis, Mauro César Isoldi
Tumor Biology.2014; 35(2): 889. CrossRef
The role of key genes and pathways involved in the tumorigenesis of Malignant Mesothelioma
Leonardo Vinícius Monteiro de Assis, Jamille Locatelli, Mauro César Isoldi
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Pleural Mesothelioma: An Institutional Experience of 66 Cases
Soomin Ahn, In Ho Choi, Joungho Han, Jhingook Kim, Myung-Ju Ahn
Korean Journal of Pathology.2014; 48(2): 91. CrossRef

Case Report

Primary Monophasic Synovial Sarcoma Arising in the Mesentery: Case Report of an Extremely Rare Mesenteric Sarcoma Confirmed by Molecular Detection of a SYT-SSX2 Fusion Transcript: Han Suk Ryu, Ilyeong Heo, Jae Soo Koh, Sung-Ho Jin, Hye Jin Kang, Soo Youn Cho; Korean J Pathol. 2012;46(2):187-191. Published online April 25, 2012; DOI: https://doi.org/10.4132/KoreanJPathol.2012.46.2.187

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Abstract PDF

Synovial sarcoma arises in the para-articular tissues, and it can also occur in various unexpected sites. We report a rare case of primary monophasic synovial sarcoma (MSS) arising in the mesentery. A 59-year-old man presented with a palpable abdominal mass. On microscopic examination, the entire tumor comprised a dense proliferation of the spindle cells without epithelial components. The tumor cells were positive for transducin-like enhancer of split 1, bcl-2, epithelial membrane antigen and CD99 but negative for CD34, CD117, alpha-smooth muscle actin, cytokeratin, and calretinin on immunohistochemistry. The reverse transcriptase-polymerase chain reaction revealed a single 151-bp fragment representing the SYT-SSX2 fusion transcript. Because mesenteric MSS is extremely rare and many cases display histologic findings that overlap with those of more frequently involved tumors such as hemangiopericytoma and gastrointestinal stromal tumor, there is a chance of making an incorrect diagnosis that can result in an inappropriate treatment.

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A case of primary mesenteric synovial sarcoma: a challenging presentation
Nihed Abdessayed, Malek Barka, Samiha Mabrouk, Zeineb Nfikha, Zeineb Maatoug, Yosra Fejji, Mohamed Salah Jarrar, Sabri Youssef, Moncef Mokni
Surgical Case Reports.2023;[Epub] CrossRef
Giant solitary fibrous tumor of the pelvis: A case report and review of literature
Gerardo Palmieri, Carmine Grassi, Luigi Conti, Filippo Banchini, Maria Diletta Daccò, Gaetano M. Cattaneo, Patrizio Capelli
International Journal of Surgery Case Reports.2020; 77: S52. CrossRef
Tumeur neuroectodermique gastro-intestinale (GNET) : à propos d’un cas de tumeur du grêle avec métastases hépatiques
Thibault Kervarrec, Claire Lecointre, Rémy Kerdraon, Guido Bens, Arnaud Piquard, Patrick Michenet
Annales de Pathologie.2015; 35(6): 506. CrossRef

Original Articles

Expression of Hepatocyte Growth Factor/c-met by RT-PCR in Meningiomas.: Na Rae Kim, Yang Seok Chae, Weon Jeong Lim, Seong Jin Cho; Korean J Pathol. 2011;45(5):463-468.; DOI: https://doi.org/10.4132/KoreanJPathol.2011.45.5.463

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Abstract PDF: BACKGROUND
Hepatocyte growth factor (HGF) is a potent mitogenic cytokine. C-met protein, which is known to be the HGF receptor has transmembrane tyrosine kinase activity and is encoded by the c-met oncogene. The HGF/c-met signaling pathway may play various roles in the carcinogenesis of various organs.
METHODS
We examined HGF and c-met mRNA expression by utilizing reverse transcription polymerase chain reaction on 40 surgically resected intracranial meningiomas (25 benign, 10 atypical, and 5 anaplastic cases).
RESULTS
An HGF overexpression was detected in 28%, 50%, and 80% of the benign, atypical and anaplastic meningiomas, respectively; a high expression of HGF or the coexpression of HGF/c-met was detected in the high grade meningiomas (the atypical and anaplastic cases, p=0.046, p=0.014). An HGF expression was statistically significant in the recurrent meningiomas (p=0.003), and HGF expression was significantly lower than c-met mRNA expression in benign meningiomas (p=0.034).
CONCLUSIONS
There was no correlation between histologic subtypes and HGF/c-met expression. Determination of HGF expression can be used as a molecular predictor for recurrence of meningioimas. These results suggest that HGF and c-met expression in meningiomas may be associated with anaplastic progression.

Rapid and Sensitive Detection of KRAS Mutation by Peptide Nucleic Acid-based Real-time PCR Clamping: A Comparison with Direct Sequencing between Fresh Tissue and Formalin-fixed and Paraffin Embedded Tissue of Colorectal Cancer.: Dongjun Jeong, Yujun Jeong, Jonghyun Lee, Moo Jun Baek, Yongbae Kim, Ji Hye Lee, Hyun Deuk Cho, Mee Hye Oh, Chang Jin Kim; Korean J Pathol. 2011;45(2):151-159.; DOI: https://doi.org/10.4132/KoreanJPathol.2011.45.2.151

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Abstract PDF

BACKGROUND
Rapid and sensitive detection of KRAS mutation is needed to maximize the benefits for patients who are being treated with monoclonal antibodies to target the epidermal growth factor receptor in colorectal cancer. The aim of this study is to evaluate the efficacy of the peptide nucleic acid clamp real-time PCR (PCqPCR) as compared to that of direct sequencing (DS) between using fresh colorectal cancer tissue and the matched formalin-fixed and paraffin-embedded (FFPE) colorectal cancer tissue.
METHODS
The efficacy of PCqPCR was evaluated and compared with that of DS using fresh tissue and matched FFPE tissue from 30 cases of colorectal cancer.
RESULTS
PCqPCR is more sensitive than DS for detecting KRAS mutation. PCqPCR detected 1% of mutants in 1 ng DNA. PCqPCR detected mutation in 1% of mutant cells, while DS barely detected, by manual reading, that in 20-50% of mutant cells. In the clinical samples, PCqPCR detected KRAS mutation in 60.0% while DS detected KRAS mutation in 53.3% of the colorectal cancers. The two methods showed a 100% concordance rate for detecting KRAS mutation between the fresh tissue and FFPE tissue.
CONCLUSIONS
The PCqPCR method is efficiently applicable for the detection of KRAS mutation in a clinical setting.

Citations

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NTRK oncogenic fusions are exclusively associated with the serrated neoplasia pathway in the colorectum and begin to occur in sessile serrated lesions
Jung Ho Kim, Jeong Hoon Hong, Yoon‐La Choi, Ji Ae Lee, Mi‐kyoung Seo, Mi‐Sook Lee, Sung Bin An, Min Jung Sung, Nam‐Yun Cho, Sung‐Su Kim, Young Kee Shin, Sangwoo Kim, Gyeong Hoon Kang
The Journal of Pathology.2021; 255(4): 399. CrossRef
Discrimination of the V600E Mutation in BRAF by Rolling Circle Amplification and Förster Resonance Energy Transfer
Mariia Dekaliuk, Xue Qiu, Frédéric Troalen, Pierre Busson, Niko Hildebrandt
ACS Sensors.2019; 4(10): 2786. CrossRef
Sensitive Genotyping of Somatic Mutations in the EGFR, KRAS, PIK3CA, BRAF Genes from NSCLC Patients Using Hydrogel Biochips
Marina Emelyanova, Ksenia Arkhipova, Natalia Mazurenko, Alexander Chudinov, Irina Demidova, Irina Zborovskaya, Lyudmila Lyubchenko, Alexander Zasedatelev, Tatiana Nasedkina
Applied Immunohistochemistry & Molecular Morphology.2015; 23(4): 255. CrossRef
Low Frequency of KRAS Mutation in Pancreatic Ductal Adenocarcinomas in Korean Patients and Its Prognostic Value
Mi Jung Kwon, Jang Yong Jeon, Hye-Rim Park, Eun Sook Nam, Seong Jin Cho, Hyung Sik Shin, Ji Hyun Kwon, Joo Seop Kim, Boram Han, Dong Hoon Kim, Yoon-La Choi
Pancreas.2015; 44(3): 484. CrossRef
Comparison of PNA clamping and direct sequencing for detecting KRAS mutations in matched tumour tissue, cell block, pleural effusion and serum from patients with malignant pleural effusion
Ji Young Kang, Chan Kwon Park, Chang Dong Yeo, Hea Yeon Lee, Chin Kook Rhee, Seung Joon Kim, Seok Chan Kim, Young Kyoon Kim, Mi Sun Park, Hyeon Woo Yim
Respirology.2015; 20(1): 138. CrossRef
BRAF V600E Mutation Analysis in Papillary Thyroid Carcinomas by Peptide Nucleic Acid Clamp Real-time PCR
Dongjun Jeong, Yujun Jeong, Ji Hye Park, Sun Wook Han, Sung Yong Kim, Yeo Joo Kim, Sang Jin Kim, Young Hwangbo, Soyoung Park, Hyun Deuk Cho, Mee Hye Oh, Seung Ha Yang, Chang Jin Kim
Annals of Surgical Oncology.2013; 20(3): 759. CrossRef
Detection and comparison of EGFR mutations in matched tumor tissues, cell blocks, pleural effusions, and sera from patients with NSCLC with malignant pleural effusion, by PNA clamping and direct sequencing
Chang Dong Yeo, Jin Woo Kim, Kwan Hyoung Kim, Jick Hwan Ha, Chin Kook Rhee, Seung Joon Kim, Young Kyoon Kim, Chan Kwon Park, Sang Haak Lee, Mi Sun Park, Hyeon Woo Yim
Lung Cancer.2013; 81(2): 207. CrossRef
Detection ofBRAFV600EMutations in Papillary Thyroid Carcinomas by Peptide Nucleic Acid Clamp Real-Time PCR: A Comparison with Direct Sequencing
Dongjun Jeong, Yujun Jeong, Sungche Lee, Hyeran Lee, Wanju Lee, Hyungjoo Kim, Doosan Park, Soyoung Park, Wenxia Mu, Hyun-Deuk Cho, Mee-Hye Oh, Sung Soo Lee, Seung-Ha Yang, Chang-Jin Kim
Korean Journal of Pathology.2012; 46(1): 61. CrossRef

A Consideration of MGMT Gene Promotor Methylation Analysis for Glioblastoma Using Methylation-Specific Polymerase Chain Reaction and Pyrosequencing.: Sang Hwa Lee, Tae Sook Hwang, Young Cho Koh, Wook Youn Kim, Hye Seung Han, Wan Seop Kim, Young Sin Ko, So Dug Lim; Korean J Pathol. 2011;45(1):21-29.; DOI: https://doi.org/10.4132/KoreanJPathol.2011.45.1.21

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Abstract PDF

BACKGROUND
O6-methylguanine-DNA methyltransferase (MGMT) gene promoter methylation is currently the most promising predictive marker for the outcome and benefit from temozolomide treatment in patients with glioblastoma, but there is no consensus on the analysis method for assessing the methylation status in the molecular diagnostic field. The objective of this study was to evaluate methylation-specific polymerase chain reaction (MSP) and pyrosequencing methods for assessing MGMT gene promotor methylation of glioblastoma as well as assessing the MGMT protein expression by immunohistochemistry.
METHODS
Twenty-seven cases of glioblastoma from the archives at the Department of Pathology Konkuk University Hospital were selected. MGMT promoter methylation was evaluated by MSP and the pyrosequencing methods. The MGMT expression was also measured at the protein level by immunohistochemistry.
RESULTS
Overall, MGMT hypermethylation was observed in 44.4% (12/27 cases) of the case of glioblastoma using either MSP or pyrosequencing. The concordant rate was 70.3% (19/27 cases) between MSP and pyrosequencing for MGMT methylation. There was no correlation between MGMT methylation and the protein expression. No significant differences in progression free survival and overall survival were seen between the methylated group and the unmethylated group by using either MSP or pyrosequencing. The status of the MGMT protein expression was correlated with progression free survival (p=0.026).
CONCLUSIONS
In this study the concordance rate between MSP and the pyrosequencing methods for assessing MGMT gene promotor methylation was relatively low for the cases of glioblastoma. This suggests that more reliable techniques for routine MGMT methylation study of glioblastoma remain to be developed because of quality control and assurance issues.

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Prognostic Role of Methylation Status of theMGMTPromoter Determined Quantitatively by Pyrosequencing in Glioblastoma Patients
Dae Cheol Kim, Ki Uk Kim, Young Zoon Kim
Journal of Korean Neurosurgical Society.2016; 59(1): 26. CrossRef
Distinct genetic alterations in pediatric glioblastomas
Sun-ju Byeon, Jae Kyung Myung, Se Hoon Kim, Seung-Ki Kim, Ji Hoon Phi, Sung-Hye Park
Child's Nervous System.2012; 28(7): 1025. CrossRef
MGMTGene Promoter Methylation Analysis by Pyrosequencing of Brain Tumour
Young Zoon Kim, Young Jin Song, Ki Uk Kim, Dae Cheol Kim
The Korean Journal of Pathology.2011; 45(5): 455. CrossRef

Utility of Promoter Hypermethylation for Differentiating Malignant and Benign Effusions in Liquid-Based Cytology Specimens.: Ga Eon Kim, Jo Heon Kim, Yeong Hui Kim, Chan Choi, Ji Shin Lee; Korean J Pathol. 2010;44(3):315-321.; DOI: https://doi.org/10.4132/KoreanJPathol.2010.44.3.315

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Abstract PDF

BACKGROUND
Making the cytologic differentiation between benign and malignant effusions can be difficult. Because promoter hypermethylation of tumor suppressor genes is a frequent epigenetic event in many human cancers, it could serve as a marker for the diagnosis of cancer. The aim of this study was to investigate the feasibility of detecting promoter hypermethylation as a diagnostic tool with using liquid-based cytology samples for differentiating between malignant and benign effusions.
METHODS
A multiplex, nested, methylation-specific polymerase chain reaction analysis was used to examine promoter methylation of 4 genes (retinoic acid receptor-beta, [RAR-beta], adenomatous polyposis coli [APC], Twist and high in normal-1 [HIN-1]) in malignant (n = 85) and benign (n = 31) liquid-based cytology samples.
RESULTS
The frequencies of hypermethylation of RAR-beta, APC, Twist and HIN-1 were significantly higher in the malignant effusions than in the benign effusions (p < 0.001 for each). On the receiver-operating characteristic analysis, the area under the curve (AUC) for APC was the greatest. The AUC for the best two-gene combination (APC/HIN-1) was not statistically different from the AUC for the best individual tumor suppressor gene (APC).
CONCLUSIONS
This study suggests that promoter methylation analysis on residual liquid-based effusion samples may be a feasible approach to detect malignant effusions, and that APC is the best marker for differentiating between malignant and benign effusions.

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A comparative analysis of conventional cytopreparatory and liquid based cytological techniques (Sure Path) in evaluation of serous effusion fluids
Hrishikesh Dadhich, Pampa Ch Toi, Neelaiah Siddaraju, Kalidas Sevvanthi
Diagnostic Cytopathology.2016; 44(11): 874. CrossRef

Comparison of Various Detection Methods of Mycobacterium Species in Formalin-Fixed Paraffin-Embedded Tissue with Chronic Granulomatous Inflammation.: Hyun Seung Lee, Hyoungnam Lee, Soyoung Im, Yun Su Lee, Kyo Young Lee, Yeong Jin Choi; Korean J Pathol. 2010;44(3):259-266.; DOI: https://doi.org/10.4132/KoreanJPathol.2010.44.3.259

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Abstract PDF

BACKGROUND
To determine the most effective method for detecting mycobacteria in formalin- fixed paraffin-embedded (FFPE) tissue, we compared the results of Ziehl-Neelsen stain (ZNS) and mycobacterial culture with those of polymerase chain reaction (PCR) and real-time quantitative PCR (RQ-PCR).
METHODS
We analyzed 54 cases diagnosed as chronic granulomatous inflammation. In all cases, ZNS and nested PCR using three different primers, IS6110, Mpb64 and IS6110/Rpobeta were done. RQ-PCR with the IS6110/Rpobeta primer was done in 51 cases.
RESULTS
Mycobacteria were identified by ZNS in 15/54 (27.8%) cases. RQ-PCR had the highest sensitivity (80.0%) compared to PCR with IS6110 (73.3%), Mpb64 (60.0%) and IS6110/Rpobeta (73.3%). Specificity was higher in all PCR experiments (79.5-82.1%) than in RQ-PCR (69.4%) experiments. The false negative rate was lowest for RQ-PCR (20.0%) than for PCR with IS6110 (26.7%), Mpb64 (40.0%) and IS6110/Rpobeta (26.7%). The false positive rate was highest for RQ-PCR (30.6%) compared to PCR with IS6110 (20.5%), Mpb64 (17.9%) and IS6110/Rpobeta (20.5%).
CONCLUSIONS
RQ-PCR had the highest sensitivity, and the lowest false negative rate, but it also had a higher false positive rate than PCR for detection of mycobacteria in FFPE tissues.

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Clinical Usefulness of PCR for Differential Diagnosis of Tuberculosis and Nontuberculous Mycobacterial Infection in Paraffin-Embedded Lung Tissues
Yo Na Kim, Kyoung Min Kim, Ha Na Choi, Ju Hyung Lee, Ho Sung Park, Kyu Yun Jang, Woo Sung Moon, Myoung Jae Kang, Dong Geun Lee, Myoung Ja Chung
The Journal of Molecular Diagnostics.2015; 17(5): 597. CrossRef
Usefulness of PCR to Mycobacterium Tuberculous and Nontuberculous Mycobacteria from Paraffin-embedded Tissues
Yeon-Il Choi, Hye-Young Kim
Korean Journal of Clinical Laboratory Science.2014; 46(2): 47. CrossRef

Aberrant Promoter Methylation of the Vimentin Gene in Colorectal Cancer Associated with the Adenoma-Carcinoma Sequence.: Mi Hee Cho, Yu Mi Lee, Jin Sook Kim, Hyun Soo Kim, Kyung Hwa Lee, Sang Woo Juhng, Jae Hyuk Lee; Korean J Pathol. 2010;44(2):179-186.; DOI: https://doi.org/10.4132/KoreanJPathol.2010.44.2.179

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Abstract PDF

BACKGROUND
DNA hypermethylation is a common epigenetic finding in human cancers and is closely associated with transcriptional silencing. In the present study, we investigated the proportion of colorectal neoplasms that showed the adenoma-carcinoma progression and vimentin gene methylation.
METHODS
Methylation status of the vimentin gene was examined in nontumoral mucosa, adenomas, and adenocarcinomas from 45 colorectal cancer patients who had adenoma and adenocarcinoma together. Methylation status was determined by bisulfite modification and the methylation-specific polymerase chain reaction. The expression of the vimentin gene product was also examined by immunohistochemistry.
RESULTS
Promoter methylation of vimentin was detected in 80% (36 out of 45 cases) of adenocarcinomas, 82.2% (37 of 45) of adenomas, and 28.9% (13 of 45) of normal epithelia, and the difference between neoplastic and normal specimens was statistically significant (p < 0.001). However, no significant correlations were observed between methylation frequency and clinicopathologic variables. Immunohistochemically, vimentin expression was not observed in either normal epithelial cells or tumor cells. Protein expression and vimentin promoter methylation were not associated.
CONCLUSIONS
The frequency of aberrant methylation of the vimentin gene was high in colonic adenomas and adenocarcinomas. This result suggests that the methylation status of vimentin may be clinically beneficial in screening for colorectal cancer patients and may be helpful in clarifying colorectal cancer biology.

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Epigenetic Modifications as Biomarkers of Tumor Development, Therapy Response, and Recurrence across the Cancer Care Continuum
Margaret Thomas, Paola Marcato
Cancers.2018; 10(4): 101. CrossRef
Aberrant promoter methylation of beta‐1,4 galactosyltransferase 1 as potential cancer‐specific biomarker of colorectal tumors
Maria Luana Poeta, Emanuela Massi, Paola Parrella, Pasquale Pellegrini, Mariangela De Robertis, Massimiliano Copetti, Carla Rabitti, Giuseppe Perrone, Andrea Onetti Muda, Francesca Molinari, Elena Zanellato, Stefano Crippa, Damiano Caputo, Marco Caricato,
Genes, Chromosomes and Cancer.2012; 51(12): 1133. CrossRef

Detection of Human Papillomavirus DNA 16/18 in Cervical Adenocarcinomas by Polymerase Chain Reaction.: Sang Sook Lee, Nam Jo Park, Chong Guk Yoon; Korean J Pathol. 1995;29(4):502-510.

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Abstract PDF: Twenty-five paraffin-embedded tumor tissues were analyzed for detection of HPV 16 and 18 in cervical adenocarcinoma by polymerase chain reaction with type specific primers and by non-radioactive Southern blot hybridization for confirmation . The suitability of paraffin-embedded tissue as PCR material was confirmed by successful amplification of 100% of cervical specimens with human -globin specific primer. Eighty four percent of the cervical adenocarcinoma tissues were positive for HPV 16 and/or 18. HPV 16 positive rate was 68%, HPV 18 was 60%. The double infection with HPV 16 and 18 was found in 44%. Three cases of the negative specimen in PCR for each type of HPV DNA 16 and 18 were positive in Southern blot hybridization. The total positive rate was 92% for HPV 16 and/or HPV 18, HPV 16 positive rate was 80%. HPV 18 was 72%. The double infection with HPV 16 and 18 was 60%. These results suggest that the pattern of HPV types 16 and 18 is closely associated with carcinogenesis of cervical cancers. HPV type 18 appears to be preferentially related to cervical adenocarcinoma and the poor prognosis of these patients. Therefore, determination of HPV DNA type in cervical carcinoma patients is important in treatment and prognosis.

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