Journal of Pathology and Translational Medicine

From articles published in Journal of Pathology and Translational Medicine during the past two years (2023 ~ ).

Reviews

Perspectives on single-nucleus RNA sequencing in different cell types and tissues: Nayoung Kim, Huiram Kang, Areum Jo, Seung-Ah Yoo, Hae-Ock Lee; J Pathol Transl Med. 2023;57(1):52-59. Published online January 10, 2023; DOI: https://doi.org/10.4132/jptm.2022.12.19

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Single-cell RNA sequencing has become a powerful and essential tool for delineating cellular diversity in normal tissues and alterations in disease states. For certain cell types and conditions, there are difficulties in isolating intact cells for transcriptome profiling due to their fragility, large size, tight interconnections, and other factors. Single-nucleus RNA sequencing (snRNA-seq) is an alternative or complementary approach for cells that are difficult to isolate. In this review, we will provide an overview of the experimental and analysis steps of snRNA-seq to understand the methods and characteristics of general and tissue-specific snRNA-seq data. Knowing the advantages and limitations of snRNA-seq will increase its use and improve the biological interpretation of the data generated using this technique.

Citations

Citations to this article as recorded by

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Muhammad Junaid, Eun Jeong Lee, Su Bin Lim
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Techniques and analytic workflow for spatial transcriptomics and its application to allergy and inflammation
Haihan Zhang, Matthew T. Patrick, Jingyu Zhao, Xintong Zhai, Jialin Liu, Zheng Li, Yiqian Gu, Joshua Welch, Xiang Zhou, Robert L. Modlin, Lam C. Tsoi, Johann E. Gudjonsson
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SGK1 drives hippocampal demyelination and diabetes-associated cognitive dysfunction in mice
Ziying Jiang, Bin Liu, Tangsheng Lu, Xiaoxing Liu, Renjun Lv, Kai Yuan, Mengna Zhu, Xinning Wang, Shangbin Li, Song Xu, Xinyu Wang, Yifei Wang, Zhenfang Gao, Peiqing Zhao, Zongyong Zhang, Junwei Hao, Lin Lu, Qingqing Yin
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Unraveling cell–cell communication with NicheNet by inferring active ligands from transcriptomics data
Chananchida Sang-aram, Robin Browaeys, Ruth Seurinck, Yvan Saeys
Nature Protocols.2025; 20(6): 1439. CrossRef
Integrative Genomics Approach Identifies Glial Transcriptomic Dysregulation and Risk in the Cortex of Individuals With Alcohol Use Disorder
Anna S. Warden, Nihal A. Salem, Eric Brenner, Greg T. Sutherland, Julia Stevens, Manav Kapoor, Alison M. Goate, R. Dayne Mayfield
Biological Psychiatry.2025;[Epub] CrossRef
A versatile and efficient method to isolate nuclei from low-input cryopreserved tissues for single-nuclei transcriptomics
Cristopher Segovia, Vincent Desrosiers, Fatemeh Khadangi, Karine Robitaille, Victoria Saavedra Armero, Myreille D’Astous, Gabriel Khelifi, Alain Bergeron, Samer Hussein, Maxime Richer, Yohan Bossé, Yves Fradet, Vincent Fradet, Steve Bilodeau
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Application of single-cell sequencing technology and its clinical implications in Parkinson’s disease and Alzheimer’s disease: a narrative review
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Advanced Technology in Neuroscience.2025; 2(1): 9. CrossRef
SGK1 upregulation in GFAP+ neurons in the frontal association cortex protects against neuronal apoptosis after spinal cord injury
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Expert recommendations to standardize transcriptomic analysis in inflammatory bowel disease clinical trials
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Transcriptional characterization of sepsis in a LPS porcine model
Ryan Neill
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Single nuclear‐spatial transcriptomic sequencing reveals distinct puncture‐induced cell subpopulations in the intervertebral disc of a rat model
Guoyan Liang, Jing Tan, Chong Chen, Yuying Liu, Yongyu Ye, Xiaolin Pan, Qiujian Zheng, Yunbing Chang, Feng‐Juan Lyu
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Mapping the cellular landscape of Atlantic salmon head kidney by single cell and single nucleus transcriptomics
Adriana M.S. Andresen, Richard S. Taylor, Unni Grimholt, Rose Ruiz Daniels, Jianxuan Sun, Ross Dobie, Neil C. Henderson, Samuel A.M. Martin, Daniel J. Macqueen, Johanna H. Fosse
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Single-cell and spatially resolved transcriptomics for liver biology
Ping Lin, Xi Yan, Siyu Jing, Yanhong Wu, Yiran Shan, Wenbo Guo, Jin Gu, Yu Li, Haibing Zhang, Hong Li
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Single-cell transcriptomics in thyroid eye disease
Sofia Ahsanuddin, Albert Y. Wu
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Impaired cortical neuronal homeostasis and cognition after diffuse traumatic brain injury are dependent on microglia and type I interferon responses
Jonathan M. Packer, Chelsea E. Bray, Nicolas B. Beckman, Lynde M. Wangler, Amara C. Davis, Ethan J. Goodman, Nathaniel E. Klingele, Jonathan P. Godbout
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Adipose tissue macrophage heterogeneity in the single-cell genomics era
Haneul Kang, Jongsoon Lee
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A Comprehensive Review on Circulating cfRNA in Plasma: Implications for Disease Diagnosis and Beyond
Pengqiang Zhong, Lu Bai, Mengzhi Hong, Juan Ouyang, Ruizhi Wang, Xiaoli Zhang, Peisong Chen
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Single-Cell Sequencing Technology in Ruminant Livestock: Challenges and Opportunities
Avery Lyons, Jocelynn Brown, Kimberly M. Davenport
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Single-Cell Transcriptomics Sheds Light on Tumor Evolution: Perspectives from City of Hope’s Clinical Trial Teams
Patrick A. Cosgrove, Andrea H. Bild, Thanh H. Dellinger, Behnam Badie, Jana Portnow, Aritro Nath
Journal of Clinical Medicine.2024; 13(24): 7507. CrossRef
Integrated analysis of single-cell and bulk RNA-seq establishes a novel signature for prediction in gastric cancer
Fei Wen, Xin Guan, Hai-Xia Qu, Xiang-Jun Jiang
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Mohammad-Erfan Farhadieh, Kamran Ghaedi
Frontiers in Molecular Neuroscience.2023;[Epub] CrossRef
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BMC Biology.2023;[Epub] CrossRef
Progress in research on tumor microenvironment-based spatial omics technologies
FANGMEI XIE, NAITE XI, ZEPING HAN, WENFENG LUO, JIAN SHEN, JINGGENG LUO, XINGKUI TANG, TING PANG, YUBING LV, JIABING LIANG, LIYIN LIAO, HAOYU ZHANG, YONG JIANG, YUGUANG LI, JINHUA HE
Oncology Research.2023; 31(6): 877. CrossRef

Aneurysmal bone cyst: a review: Elham Nasri, John David Reith; J Pathol Transl Med. 2023;57(2):81-87. Published online March 14, 2023; DOI: https://doi.org/10.4132/jptm.2023.02.23

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648 Download
21 Web of Science
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Abstract PDF

Aneurysmal bone cyst (ABC) is a benign locally destructive bone neoplasm composed of multi-loculated blood-filled cystic spaces. The most common sites of involvement are the meta-diaphysis of the long bones and posterior elements of the vertebrae. Secondary, ABC-like changes can complicate a variety of other benign and malignant primary bone neoplasms, including giant cell tumor, fibrous dysplasia, and osteosarcoma. About two-third of primary ABCs have a rearrangement of the USP6 gene, which is not present in the ABC-like changes that occur secondary to other primary bone tumors (i.e., secondary ABC). Primary ABC of bone carries a variable but generally high rate of local recurrence. This paper provides an overview of the pathophysiology, clinical presentation, radiographic and pathologic findings, treatment, and prognosis of ABC.

Citations

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Denosumab Re-Challenge and Long-Term Efficacy for Aneurysmal Bone Cyst of the Spine: Enhanced Treatment Algorithm
Gisberto Evangelisti, Franziska C. S. Altorfer, Luigi Falzetti, Emanuela Palmerini, Cristiana Griffoni, Riccardo Ghermandi, Stefano Boriani, Annalisa Monetta, Marilena Cesari, Toni Ibrahim, Alessandro Gasbarrini
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Rare Aneurysmal Bone Cyst Presentation in the Orbit: A Systematic Review of the Literature with an Illustrative Case Report
Sean O'Leary, Fakhar Hayat, Saketh Amasa, Muhammad Ammar Haider, Saad Akram Asbeutah, Usama AlDallal, Umaru Barrie, Mohamed Ismail
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Inflammatory bowel disease–associated intestinal fibrosis: Ji Min Park, Jeongseok Kim, Yoo Jin Lee, Sung Uk Bae, Hye Won Lee; J Pathol Transl Med. 2023;57(1):60-66. Published online January 10, 2023; DOI: https://doi.org/10.4132/jptm.2022.11.02

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394 Download
25 Web of Science
25 Crossref

Abstract PDF

Fibrosis is characterized by a proliferation of fibroblasts and excessive extracellular matrix following chronic inflammation, and this replacement of organ tissue with fibrotic tissue causes a loss of function. Inflammatory bowel disease (IBD) is a chronic inflammation of the gastrointestinal tract, and intestinal fibrosis is common in IBD patients, resulting in several complications that require surgery, such as a stricture or penetration. This review describes the pathogenesis and various factors involved in intestinal fibrosis in IBD, including cytokines, growth factors, epithelial-mesenchymal and endothelial-mesenchymal transitions, and gut microbiota. Furthermore, histopathologic findings and scoring systems used for stenosis in IBD are discussed, and differences in the fibrosis patterns of ulcerative colitis and Crohn’s disease are compared. Biomarkers and therapeutic agents targeting intestinal fibrosis are briefly mentioned at the end.

Citations

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Leveraging Organ‐on‐Chip Models to Investigate Host–Microbiota Dynamics and Targeted Therapies for Inflammatory Bowel Disease
Tim Kaden, Raquel Alonso‐Román, Johannes Stallhofer, Mark S. Gresnigt, Bernhard Hube, Alexander S. Mosig
Advanced Healthcare Materials.2025;[Epub] CrossRef
Prominence of Microbiota to Predict Fibrous Stenosis in Crohn’s Disease
Xue Yang, Yan Pan, Cai-Ping Gao, Hang Li, Ying-Hui Zhang, Chun-Li Huang, Lu Cao, Shi-Yu Xiao, Zhou Zhou
Journal of Inflammation Research.2025; Volume 18: 1413. CrossRef
Fibrosierende Erkrankungen im Gastrointestinaltrakt
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Takayoshi Ito, Hisako Kayama
International Immunology.2025; 37(7): 379. CrossRef
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Silvio Danese, Laurent Peyrin‐Biroulet, Vipul Jairath, Ferdinando D'Amico, Shashi Adsul, Christian Agboton, Fernando Magro
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Infections and immunity: associations with obesity and related metabolic disorders: Amitabha Ray, Melissa J. L. Bonorden, Rajashree Pandit, Katai J. Nkhata, Anupam Bishayee; J Pathol Transl Med. 2023;57(1):28-42. Published online January 15, 2023; DOI: https://doi.org/10.4132/jptm.2022.11.14

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261 Download
13 Web of Science
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Abstract PDF

About one-fourth of the global population is either overweight or obese, both of which increase the risk of insulin resistance, cardiovascular diseases, and infections. In obesity, both immune cells and adipocytes produce an excess of pro-inflammatory cytokines that may play a significant role in disease progression. In the recent coronavirus disease 2019 (COVID-19) pandemic, important pathological characteristics such as involvement of the renin-angiotensin-aldosterone system, endothelial injury, and pro-inflammatory cytokine release have been shown to be connected with obesity and associated sequelae such as insulin resistance/type 2 diabetes and hypertension. This pathological connection may explain the severity of COVID-19 in patients with metabolic disorders. Many studies have also reported an association between type 2 diabetes and persistent viral infections. Similarly, diabetes favors the growth of various microorganisms including protozoal pathogens as well as opportunistic bacteria and fungi. Furthermore, diabetes is a risk factor for a number of prion-like diseases. There is also an interesting relationship between helminths and type 2 diabetes; helminthiasis may reduce the pro-inflammatory state, but is also associated with type 2 diabetes or even neoplastic processes. Several studies have also documented altered circulating levels of neutrophils, lymphocytes, and monocytes in obesity, which likely modifies vaccine effectiveness. Timely monitoring of inflammatory markers (e.g., C-reactive protein) and energy homeostasis markers (e.g., leptin) could be helpful in preventing many obesity-related diseases.

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A review of liver fibrosis and cirrhosis regression: Michael J. Lee; J Pathol Transl Med. 2023;57(4):189-195. Published online June 20, 2023; DOI: https://doi.org/10.4132/jptm.2023.05.24

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Abstract PDF

Cirrhosis has traditionally been considered an irreversible process of end-stage liver disease. With new treatments for chronic liver disease, there is regression of fibrosis and cirrhosis, improvement in clinical parameters (i.e. liver function and hemodynamic markers, hepatic venous pressure gradient), and survival rates, demonstrating that fibrosis and fibrolysis are a dynamic process moving in two directions. Microscopically, hepatocytes push into thinning fibrous septa with eventual perforation leaving behind delicate periportal spikes in the portal tracts and loss of portal veins. Obliterated portal veins during progressive fibrosis and cirrhosis due to parenchymal extinction, vascular remodeling and thrombosis often leave behind a bile duct and hepatic artery within the portal tract. Traditional staging classification systems focused on a linear, progressive process; however, the Beijing classification system incorporates both the bidirectional nature for the progression and regression of fibrosis. However, even with regression, vascular lesions/remodeling, parenchymal extinction and a cumulative mutational burden place patients at an increased risk for developing hepatocellular carcinoma and should continue to undergo active clinical surveillance. It is more appropriate to consider cirrhosis as another stage in the evolution of chronic liver disease as a bidirectional process rather than an end-stage, irreversible state.

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A standardized pathology report for gastric cancer: 2nd edition: Young Soo Park, Myeong-Cherl Kook, Baek-hui Kim, Hye Seung Lee, Dong-Wook Kang, Mi-Jin Gu, Ok Ran Shin, Younghee Choi, Wonae Lee, Hyunki Kim, In Hye Song, Kyoung-Mee Kim, Hee Sung Kim, Guhyun Kang, Do Youn Park, So-Young Jin, Joon Mee Kim, Yoon Jung Choi, Hee Kyung Chang, Soomin Ahn, Mee Soo Chang, Song-Hee Han, Yoonjin Kwak, An Na Seo, Sung Hak Lee, Mee-Yon Cho; J Pathol Transl Med. 2023;57(1):1-27. Published online January 15, 2023; DOI: https://doi.org/10.4132/jptm.2022.12.23

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Abstract PDF Supplementary Material

The first edition of ‘A Standardized Pathology Report for Gastric Cancer’ was initiated by the Gastrointestinal Pathology Study Group of the Korean Society of Pathologists and published 17 years ago. Since then, significant advances have been made in the pathologic diagnosis, molecular genetics, and management of gastric cancer (GC). To reflect those changes, a committee for publishing a second edition of the report was formed within the Gastrointestinal Pathology Study Group of the Korean Society of Pathologists. This second edition consists of two parts: standard data elements and conditional data elements. The standard data elements contain the basic pathologic findings and items necessary to predict the prognosis of GC patients, and they are adequate for routine surgical pathology service. Other diagnostic and prognostic factors relevant to adjuvant therapy, including molecular biomarkers, are classified as conditional data elements to allow each pathologist to selectively choose items appropriate to the environment in their institution. We trust that the standardized pathology report will be helpful for GC diagnosis and facilitate large-scale multidisciplinary collaborative studies.

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Original Articles

Significance of tumor-associated neutrophils, lymphocytes, and neutrophil-to-lymphocyte ratio in non-invasive and invasive bladder urothelial carcinoma: Wael Abdo Hassan, Ahmed Kamal ElBanna, Noha Noufal, Mohamed El-Assmy, Hany Lotfy, Rehab Ibrahim Ali; J Pathol Transl Med. 2023;57(2):88-94. Published online January 10, 2023; DOI: https://doi.org/10.4132/jptm.2022.11.06

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Abstract PDF

Background
Tumor-infiltrating neutrophils and lymphocytes play essential roles in promoting or combating various neoplasms. This study aimed to investigate the association between tumor-infiltrating neutrophils and lymphocytes and the neutrophil-to-lymphocyte ratio in the progression of urothelial carcinoma.
Methods
A total of 106 patients diagnosed with urothelial carcinoma were was. Pathological examination for tumor grade and stage and for tumor-infiltrating neutrophils, both CD4 and CD8+ T lymphocytes, as well as the neutrophil- to-lymphocyte ratio were evaluated.
Results
The presence of neutrophils and the neutrophil-to-lymphocyte ratio correlated with high-grade urothelial neoplasms. In both low- and high-grade tumors, the lymphocytes increased during progression from a non-invasive neoplasm to an early-invasive neoplasm. CD8+ T lymphocytes increased in low-grade non–muscle-invasive tumors compared to non-invasive tumors. Additionally, there was a significant decrease in CD8+ T lymphocytes during progression to muscle-invasive tumors.
Conclusions
Our results suggest that tumor-infiltrating neutrophils and CD8+ T lymphocytes have a significant effect on tumor grade and progression.

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Muhammad Summer, Saima Riaz, Shaukat Ali, Qudsia Noor, Rimsha Ashraf, Rana Rashad Mahmood Khan
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Irene Di Ceglie, Silvia Carnevale, Anna Rigatelli, Giovanna Grieco, Piera Molisso, Sebastien Jaillon
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Immunohistochemistry assessment of tissue neutrophil-to-lymphocyte ratio predicts outcomes in melanoma patients treated with anti-programmed cell death 1 therapy
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Jiaguo Huang, Li Lin, Dikai Mao, Runmiao Hua, Feifei Guan
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Mohamad Abou Chakra, Yi Luo, Igor Duquesne, Michael A O'Donnell
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Chunhua Xu, Fenfang Wu, Lailing Du, Yeping Dong, Shan Lin
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Chitinase 3-like-1 Expression in the Microenvironment Is Associated with Neutrophil Infiltration in Bladder Cancer
Ling-Yi Xiao, Yu-Li Su, Shih-Yu Huang, Yi-Hua Chen, Po-Ren Hsueh
International Journal of Molecular Sciences.2023; 24(21): 15990. CrossRef

Expression of specific microRNAs in tissue and plasma in colorectal cancer: Allan Fellizar, Vivencio Refuerzo, John Donnie Ramos, Pia Marie Albano; J Pathol Transl Med. 2023;57(3):147-157. Published online May 3, 2022; DOI: https://doi.org/10.4132/jptm.2022.02.19

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Abstract PDF

Background
MicroRNAs (miRNA/miR) play significant roles in the regulation of cell differentiation, cell cycle progression, and apoptosis. They become dysregulated during carcinogenesis and are eventually released into the circulation, enabling their detection in body fluids. Thus, this study compared the miRNA expression in tissue and plasma samples of colorectal cancer (CRC) patients and clinically healthy controls and determined miRNA expression as a potential CRC biomarker.
Methods
Using quantitative reverse transcription polymerase chain reaction (RT-qPCR), miR-21-5p, miR-29a-3p, miR-92a-3p, miR-135b-5p, miR-196b-5p, and miR-197-3p, expression was analyzed and compared between the malignant (n = 41) and the adjacent neoplasm free mucosal tissues (n = 41) of CRC patients. The findings were validated in plasma samples (n = 36) collected from the same CRC patients prior to surgery or any form of treatment and compared to plasma from their age and sex-matched controls (n = 36).
Results
MiR-21-5p, miR-29a-3p, miR-92a-3p, and miR- 196b-5p were upregulated and miR-135b-5p was downregulated in CRC malignant tissues compared to their expression in adjacent neoplasm-free tissue. This was further observed in the plasma of the same CRC cases compared to controls. MiR-92a-3p showed itself the most sensitive (0.93; p < .001) and most specific (0.95; p < .001) in detecting CRC in tissue. In plasma, miR-196b-5p was the most sensitive (0.97; p < .001) and specific (0.94; p < .001) in detecting CRC. Plasma miR-92a-3p and miR-196b-5p were the most sensitive (0.95; p < .001) and specific (0.94; p < .001) in the early detection of CRC.
Conclusions
Results show that specific miRNAs dysregulated in malignant tissues are released and can be detected in the circulation, supporting their potential as non-invasive biomarkers of CRC.

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Newsletter

What’s new in dermatopathology 2023: WHO 5th edition updates: Jonathan Ho, Chico J Collie; J Pathol Transl Med. 2023;57(6):337-340. Published online October 17, 2023; DOI: https://doi.org/10.4132/jptm.2023.09.22

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Abstract PDF

The 5th edition WHO Classification of Skin Tumors (2022) has introduced changes to nomenclature and diagnostics. Important differences are discussed below. Changes in each category of skin tumor have been detailed, with particular emphasis on meaningful advances in our understanding of the molecular pathogenesis of the skin’s diverse tumor landscape.

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Review

The Asian Thyroid Working Group, from 2017 to 2023: Kennichi Kakudo, Chan Kwon Jung, Zhiyan Liu, Mitsuyoshi Hirokawa, Andrey Bychkov, Huy Gia Vuong, Somboon Keelawat, Radhika Srinivasan, Jen-Fan Hang, Chiung-Ru Lai; J Pathol Transl Med. 2023;57(6):289-304. Published online November 14, 2023; DOI: https://doi.org/10.4132/jptm.2023.10.04

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The Asian Thyroid Working Group was founded in 2017 at the 12th Asia Oceania Thyroid Association (AOTA) Congress in Busan, Korea. This group activity aims to characterize Asian thyroid nodule practice and establish strict diagnostic criteria for thyroid carcinomas, a reporting system for thyroid fine needle aspiration cytology without the aid of gene panel tests, and new clinical guidelines appropriate to conservative Asian thyroid nodule practice based on scientific evidence obtained from Asian patient cohorts. Asian thyroid nodule practice is usually designed for patient-centered clinical practice, which is based on the Hippocratic Oath, “First do not harm patients,” and an oriental filial piety “Do not harm one’s own body because it is a precious gift from parents,” which is remote from defensive medical practice in the West where physicians, including pathologists, suffer from severe malpractice climate. Furthermore, Asian practice emphasizes the importance of resource management in navigating the overdiagnosis of low-risk thyroid carcinomas. This article summarizes the Asian Thyroid Working Group activities in the past 7 years, from 2017 to 2023, highlighting the diversity of thyroid nodule practice between Asia and the West and the background reasons why Asian clinicians and pathologists modified Western systems significantly.

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Sang Yi Moon, Minkook Son, Jung-Hwan Cho, Hye In Kim, Ji Min Han, Ji Cheol Bae, Sunghwan Suh
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Letter: “High Rates of Unnecessary Surgery for Indeterminate Thyroid Nodules in the Absence of Molecular Test and the Cost-Effectiveness of Utilizing Molecular Test in an Asian Population: A Decision Analysis” by Fung et al
Kennichi Kakudo, Andrey Bychkov, Jen-Fan Hang, Mitsuyoshi Hirokawa, Somboon Keelawat, Zhiyan Liu, Radhika Srinivasan, Chan Kwon Jung
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Dorota Słowińska-Klencka, Bożena Popowicz, Joanna Duda-Szymańska, Mariusz Klencki
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Response to Kakudo et al.: “High Rates of Unnecessary Surgery for Indeterminate Thyroid Nodules in the Absence of Molecular Test and the Cost-Effectiveness of Utilizing Molecular Test in an Asian Population: A Decision Analysis”
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Original Article

TRPS1 expression in non-melanocytic cutaneous neoplasms: an immunohistochemical analysis of 200 cases: Yi A. Liu, Phyu P. Aung, Yunyi Wang, Jing Ning, Priyadharsini Nagarajan, Jonathan L. Curry, Carlos A. Torres-Cabala, Doina Ivan, Victor G. Prieto, Qingqing Ding, Woo Cheal Cho; J Pathol Transl Med. 2024;58(2):72-80. Published online February 26, 2024; DOI: https://doi.org/10.4132/jptm.2024.01.23

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Background
Although trichorhinophalangeal syndrome type 1 (TRPS1) was initially thought to be highly sensitive and specific for carcinomas and mesenchymal tumors of mammary origin, more recent data suggest its expression is not limited to breast neoplasms but also can be seen in other cutaneous neoplasms, such as extramammary Paget disease and squamous cell carcinoma (SCC) in situ.
Methods
Two-hundred cases of non-melanocytic cutaneous neoplasm, including basal cell carcinomas (BCCs) (n = 41), SCCs (n = 35), Merkel cell carcinomas (MCCs) (n = 25), and adnexal neoplasms (n = 99), were tested for TRPS1 expression using a monoclonal anti- TRPS1 rabbit anti-human antibody.
Results
TRPS1 expression was present in almost all cases of SCC (94%), with a median H-score of 200, while it was either absent or only focally present in most BCCs (90%), with a median H-score of 5. The difference between BCCs and SCCs in H-score was significant (p < .001). All MCCs (100%) lacked TRPS1 expression. TRPS1 expression was frequently seen in most adnexal neoplasms, benign and malignant, in variable intensity and proportion but was consistently absent in apocrine carcinomas. All endocrine mucin-producing sweat gland carcinomas (EMPSGCs) (100%, 6/6) showed diffuse and strong TRPS1 immunoreactivity, with a median H-score of 300, which was significantly different (p < .001) than that of BCCs.
Conclusions
Our study shows that TRPS1 may be an effective discriminatory marker for BCCs and SCCs. It also has a role in distinguishing BCCs from EMPSGCs.

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Reviews

A stepwise approach to fine needle aspiration cytology of lymph nodes: Yosep Chong, Gyeongsin Park, Hee Jeong Cha, Hyun-Jung Kim, Chang Suk Kang, Jamshid Abdul-Ghafar, Seung-Sook Lee; J Pathol Transl Med. 2023;57(4):196-207. Published online July 11, 2023; DOI: https://doi.org/10.4132/jptm.2023.06.12

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The cytological diagnosis of lymph node lesions is extremely challenging because of the diverse diseases that cause lymph node enlargement, including both benign and malignant or metastatic lymphoid lesions. Furthermore, the cytological findings of different lesions often resemble one another. A stepwise diagnostic approach is essential for a comprehensive diagnosis that combines: clinical findings, including age, sex, site, multiplicity, and ultrasonography findings; low-power reactive, metastatic, and lymphoma patterns; high-power population patterns, including two populations of continuous range, small monotonous pattern and large monotonous pattern; and disease-specific diagnostic clues including granulomas and lymphoglandular granules. It is also important to remember the histological features of each diagnostic category that are common in lymph node cytology and to compare them with cytological findings. It is also essential to identify a few categories of diagnostic pitfalls that often resemble lymphomas and easily lead to misdiagnosis, particularly in malignant small round cell tumors, poorly differentiated squamous cell carcinomas, and nasopharyngeal undifferentiated carcinoma. Herein, we review a stepwise approach for fine needle aspiration cytology of lymphoid diseases and suggest a diagnostic algorithm that uses this approach and the Sydney classification system.

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Ming Xu, Yubiao Yue, Zhenzhang Li, Yinhong Li, Guoying Li, Haihua Liang, Di Liu, Xiaohong Xu, Mohamadreza (Mohammad) Khosravi
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Comment on “A stepwise approach to fine needle aspiration cytology of lymph nodes”
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Single-cell and spatial sequencing application in pathology: Yoon-Seob Kim, Jinyong Choi, Sug Hyung Lee; J Pathol Transl Med. 2023;57(1):43-51. Published online January 10, 2023; DOI: https://doi.org/10.4132/jptm.2022.12.12

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Abstract PDF

Traditionally, diagnostic pathology uses histology representing structural alterations in a disease’s cells and tissues. In many cases, however, it is supplemented by other morphology-based methods such as immunohistochemistry and fluorescent in situ hybridization. Single-cell RNA sequencing (scRNA-seq) is one of the strategies that may help tackle the heterogeneous cells in a disease, but it does not usually provide histologic information. Spatial sequencing is designed to assign cell types, subtypes, or states according to the mRNA expression on a histological section by RNA sequencing. It can provide mRNA expressions not only of diseased cells, such as cancer cells but also of stromal cells, such as immune cells, fibroblasts, and vascular cells. In this review, we studied current methods of spatial transcriptome sequencing based on their technical backgrounds, tissue preparation, and analytic procedures. With the pathology examples, useful recommendations for pathologists who are just getting started to use spatial sequencing analysis in research are provided here. In addition, leveraging spatial sequencing by integration with scRNA-seq is reviewed. With the advantages of simultaneous histologic and single-cell information, spatial sequencing may give a molecular basis for pathological diagnosis, improve our understanding of diseases, and have potential clinical applications in prognostics and diagnostic pathology.

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Reevaluating diagnostic categories and associated malignancy risks in thyroid core needle biopsy: Chan Kwon Jung; J Pathol Transl Med. 2023;57(4):208-216. Published online July 11, 2023; DOI: https://doi.org/10.4132/jptm.2023.06.20

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Abstract PDF

As the application of core needle biopsy (CNB) in evaluating thyroid nodules rises in clinical practice, the 2023 Korean Thyroid Association Management Guidelines for Patients with Thyroid Nodules have officially recognized its value for the first time. CNB procures tissue samples preserving both histologic structure and cytologic detail, thereby supplying substantial material for an accurate diagnosis and reducing the necessity for repeated biopsies or subsequent surgical interventions. The current review introduces the risk of malignancy within distinct diagnostic categories, emphasizing the implications of noninvasive follicular thyroid neoplasm with papillary-like nuclear features on these malignancy risks. Prior research has indicated diagnostic challenges associated with follicular-patterned lesions, resulting in notable variation within indeterminate diagnostic categories. The utilization of mutation-specific immunostaining in CNB enhances the accuracy of lesion classification. This review underlines the essential role of a multidisciplinary approach in diagnosing follicular-patterned lesions and the potential of mutation-specific immunostaining to strengthen diagnostic consensus and inform patient management decisions.

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Case Study

Thyroid pathology, a clue to PTEN hamartoma tumor syndrome: Yurimi Lee, Young Lyun Oh; J Pathol Transl Med. 2023;57(3):178-183. Published online March 30, 2023; DOI: https://doi.org/10.4132/jptm.2023.03.04

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Abstract PDF

Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is a hereditary disorder caused by germline inactivating mutations in the PTEN tumor suppressor gene. As a type of PHTS, Cowden syndrome is associated with abnormalities of the thyroid, breast, uterus, and gastrointestinal tract. A 52-year-old-woman visited the outpatient clinic of our endocrinology clinic with multiple thyroid nodules and Hashimoto's thyroiditis. Computed tomography imaging revealed a multinodular mass measuring up to 3.5 cm in the left thyroid lobe, causing laryngotracheal airway displacement. The total thyroidectomy specimen revealed multiple follicular adenomas and adenomatous nodules with lymphocytic thyroiditis and lipomatous metaplasia in the background. The patient was suspected of PTHS based on her thyroid pathology, family history, and numerous hamartomatous lesions of the breast, uterus, and skin. Her diagnosis was confirmed through molecular testing. This case demonstrates that pathologists must be well acquainted with thyroid pathology in PHTS.

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