- Artificial intelligence algorithm for neoplastic cell percentage estimation and its application to copy number variation in urinary tract cancer
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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
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J Pathol Transl Med. 2024;58(5):229-240. Published online August 9, 2024
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DOI: https://doi.org/10.4132/jptm.2024.07.13
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 Abstract
 PDF Supplementary Material
- Background
Bladder cancer is characterized by frequent mutations, which provide potential therapeutic targets for most patients. The effectiveness of emerging personalized therapies depends on an accurate molecular diagnosis, for which the accurate estimation of the neoplastic cell percentage (NCP) is a crucial initial step. However, the established method for determining the NCP, manual counting by a pathologist, is time-consuming and not easily executable.
Methods
To address this, artificial intelligence (AI) models were developed to estimate the NCP using nine convolutional neural networks and the scanned images of 39 cases of urinary tract cancer. The performance of the AI models was compared to that of six pathologists for 119 cases in the validation cohort. The ground truth value was obtained through multiplexed immunofluorescence. The AI model was then applied to 41 cases in the application cohort that underwent next-generation sequencing testing, and its impact on the copy number variation (CNV) was analyzed.
Results
Each AI model demonstrated high reliability, with intraclass correlation coefficients (ICCs) ranging from 0.82 to 0.88. These values were comparable or better to those of pathologists, whose ICCs ranged from 0.78 to 0.91 in urothelial carcinoma cases, both with and without divergent differentiation/ subtypes. After applying AI-driven NCP, 190 CNV (24.2%) were reclassified with 66 (8.4%) and 78 (9.9%) moved to amplification and loss, respectively, from neutral/minor CNV. The neutral/minor CNV proportion decreased by 6%.
Conclusions
These results suggest that AI models could assist human pathologists in repetitive and cumbersome NCP calculations.
- Morule-like features in pulmonary adenocarcinoma associated with epidermal growth factor receptor mutations: two case reports with targeted next-generation sequencing analysis
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Yoo Jin Lee, Harim Oh, Eojin Kim, Bokyung Ahn, Jeong Hyeon Lee, Youngseok Lee, Yang Seok Chae, Chul Hwan Kim
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J Pathol Transl Med. 2020;54(1):119-122. Published online November 1, 2019
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DOI: https://doi.org/10.4132/jptm.2019.09.30
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Abstract
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- Morules, or morule-like features, can be identified in benign and malignant lesions in various organs. Morular features are unusual in pulmonary adenocarcinoma cases with only 26 cases reported to date. Here, we describe two cases of pulmonary adenocarcinoma with morule-like features in Korean women. One patient had a non-mucinous-type adenocarcinoma in situ and the other had an acinarpredominant adenocarcinoma with a micropapillary component. Both patients showed multiple intra-alveolar, nodular, whorled proliferative foci composed of atypical spindle cells with eosinophilic cytoplasm. Targeted next-generation sequencing was performed on DNA extracted from formalin-fixed paraffin-embedded samples of the tumors. Results showed unusual epidermal growth factor receptor (EGFR) mutations, which are associated with drug resistance to EGFR tyrosine kinase inhibitors, revealing the importance of identifying morule-like features in pulmonary adenocarcinoma and the need for additional study, since there are few reported cases.
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Citations
Citations to this article as recorded by  - Pulmonary adenocarcinoma in situ with morule - like components: A surgical case report
Mitsuteru Yosida, Mitsuru Tomita, Naoya Kawakita, Teruki Shimizu, Ryou Yamada, Hiromitsu Takizawa, Hisanori Uehara
Respiratory Medicine Case Reports.2024; 48: 102008. CrossRef - Clinicopathological, Radiological, and Molecular Features of Primary Lung Adenocarcinoma with Morule-Like Components
Li-Li Wang, Li Ding, Peng Zhao, Jing-Jing Guan, Xiao-Bin Ji, Xiao-Li Zhou, Shi-Hong Shao, Yu-Wei Zou, Wei-Wei Fu, Dong-Liang Lin, Dong Pan
Disease Markers.2021; 2021: 1. CrossRef
- Adenocarcinoma Arising in an Ectopic Hamartomatous Thymoma with HER2 Overexpression
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Harim Oh, Eojin Kim, Bokyung Ahn, Jeong Hyeon Lee, Youngseok Lee, Yang Seok Chae, Chul Hwan Kim, Yoo Jin Lee
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J Pathol Transl Med. 2019;53(6):403-406. Published online August 19, 2019
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DOI: https://doi.org/10.4132/jptm.2019.06.23
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4,822
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Citations
Citations to this article as recorded by - Branchioma: immunohistochemical and molecular genetic study of 23 cases highlighting frequent loss of retinoblastoma 1 immunoexpression
Martina Bradová, Lester D. R. Thompson, Martin Hyrcza, Tomáš Vaněček, Petr Grossman, Michael Michal, Veronika Hájková, Touraj Taheri, Niels Rupp, David Suster, Sunil Lakhani, Dimitar Hadži Nikolov, Radim Žalud, Alena Skálová, Michal Michal, Abbas Agaimy
Virchows Archiv.2024; 484(1): 103. CrossRef - Adenocarcinoma arising in branchioma with a KRAS and TP53 mutation
Natsuki Taniguchi, Akira Satou, Takanori Ito, Masato Nakaguro, Toyonori Tsuzuki
Pathology International.2023; 73(7): 317. CrossRef - Two Ectopic Hamartomatous Thymomas of Suprasternal Region of the Neck in A Single Patient: A Case Report
Wei WANG, Manmei LONG, Zhichao WANG
Chinese Journal of Plastic and Reconstructive Surgery.2021; 3(1): 51. CrossRef
- Human Papillomavirus–Related Multiphenotypic Sinonasal Carcinoma with Late Recurrence
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Bokyung Ahn, Eojin Kim, Harim Oh, Yang-Seok Chae, Chul Hwan Kim, Youngseok Lee, Jeong Hyeon Lee, Yoo Jin Lee
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J Pathol Transl Med. 2019;53(5):337-340. Published online April 25, 2019
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DOI: https://doi.org/10.4132/jptm.2019.04.02
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6,058
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8
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8
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Citations
Citations to this article as recorded by - HPV-Related Multiphenotypic Sinonasal Carcinoma: A Clinicoradiological Series of 3 Cases With Full Endoscopic Surgical Outcome
Catherine Beaumont, Sylvie Nadeau, Pierre-Olivier Champagne, Michel Beauchemin, Noémie Villemure-Poliquin
Ear, Nose & Throat Journal.2024;[Epub] CrossRef - A Case of Human Papillomavirus-Related Multiphenotypic Sinonasal Carcinoma Resected by Endoscopic Surgery
Keigo Nakamura, Ichiro Tojima, Yoshihito Kubo, Kento Kawakita, Takuya Murao, Yuichiro Oe, Hiroyuki Arai, Koji Matsumoto, Hideaki Kouzaki, Takeshi Shimizu
Practica oto-rhino-laryngologica. Suppl..2024; 164: 61. CrossRef - Human papillomavirus-related multiphenotypic sinonasal carcinoma: A report of two patients and review of the literature
Satoru Miyamaru, Tetsuji Sanuki, Yusuke Miyamoto, Kohei Nishimoto, Masako Masuda, Yumi Honda, Yoshiki Mikami, Yorihisa Orita
Auris Nasus Larynx.2023; 50(3): 473. CrossRef - Malignant Sinonasal Tumors: Update on Histological and Clinical Management
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Current Oncology.2021; 28(4): 2420. CrossRef - Human Papillomavirus-Related Multiphenotypic Sinonasal Carcinoma—An Even Broader Tumor Entity?
Mark Zupancic, Anders Näsman
Viruses.2021; 13(9): 1861. CrossRef - A Case of Human Papillomavirus-related Multiphenotypic Sinonasal Carcinoma Resected by Endonasal Endoscopic En Bloc Resection
Satoru Miyamaru, Yu Shimoda, Kohei Nishimoto, Hiroyuki Ueda, Masako Masuda, Taro Okazaki, Tetsuji Sanuki, Yumi Honda, Yoshiki Mikami, Yorihisa Orita
Nihon Bika Gakkai Kaishi (Japanese Journal of Rhinology).2021; 60(4): 531. CrossRef - Don't stop the champions of research now: a brief history of head and neck pathology developments
Lester D.R. Thompson, James S. Lewis, Alena Skálová, Justin A. Bishop
Human Pathology.2020; 95: 1. CrossRef - HPV-Related Multiphenotypic Sinonasal Carcinoma: Four Cases that Expand the Morpho-Molecular Spectrum and Include Occupational Data
Niels J. Rupp, Ulrike Camenisch, Kati Seidl, Elisabeth J. Rushing, Nanina Anderegg, Martina A. Broglie, David Holzmann, Grégoire B. Morand
Head and Neck Pathology.2020; 14(3): 623. CrossRef
- Comparison of the Mismatch Repair System between Primary and Metastatic Colorectal Cancers Using Immunohistochemistry
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Jiyoon Jung, Youngjin Kang, Yoo Jin Lee, Eojin Kim, Bokyung Ahn, Eunjung Lee, Joo Young Kim, Jeong Hyeon Lee, Youngseok Lee, Chul Hwan Kim, Yang-Seok Chae
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J Pathol Transl Med. 2017;51(2):129-136. Published online February 14, 2017
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DOI: https://doi.org/10.4132/jptm.2016.12.09
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10,678
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29
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Abstract
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- Background
Colorectal cancer (CRC) is one of the most common malignancies worldwide. Approximately 10%–15% of the CRC cases have defective DNA mismatch repair (MMR) genes. Although the high level of microsatellite instability status is a predictor of favorable outcome in primary CRC, little is known about its frequency and importance in secondary CRC. Immunohistochemical staining (IHC) for MMR proteins (e.g., MLH1, MSH2, MSH6, and PMS2) has emerged as a useful technique to complement polymerase chain reaction (PCR) analyses. Methods: In this study, comparison between the MMR system of primary CRCs and paired liver and lung metastatic lesions was done using IHC and the correlation with clinical outcomes was also examined. Results: Based on IHC, 7/61 primary tumors (11.4%) showed deficient MMR systems, while 13/61 secondary tumors (21.3%) showed deficiencies. In total, 44 cases showed proficient expression in both the primary and metastatic lesions. Three cases showed deficiencies in both the primary and paired metastatic lesions. In 10 cases, proficient expression was found only in the primary lesions, and not in the corresponding metastatic lesions. In four cases, proficient expression was detected in the secondary tumor, but not in the primary tumor. Conclusions: Although each IHC result and the likely defective genes were not exactly matched between the primary and the metastatic tumors, identical results for primary and metastatic lesions were obtained in 77% of the cases (47/61). These data are in agreement with the previous microsatellite detection studies that used PCR and IHC.
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Citations
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Hailing Yu, Tan Deng, Hongbing Liu
Human Vaccines & Immunotherapeutics.2025;[Epub] CrossRef - Prognostic and Predictive Value of Microsatellite Instability Analysis in Circulating Tumor DNA Using Digital Droplet PCR for Patients With Microsatellite Instability Colorectal Cancers
Camille Evrard, Tristan Rochelle, Marine Martel, Anis Al Achkar, Aurélie Ferru, Violaine Randrian, Lucie Karayan-Tapon, David Tougeron
Laboratory Investigation.2025; 105(8): 104176. CrossRef - HER2, HER3 and mismatch repair protein expression in stage IV small bowel adenocarcinoma: results from a multicenter series
Alessandro Vanoli, Tommaso Colella, Paola Parente, Giuseppe De Lisi, Federica Grillo, Erica Quaquarini, Salvatore Corallo, Rondell Patrell Graham, Marc Ferrante, Annick Moens, Gert De Hertog, Camilla Guerini, Roberta Riboni, Paola Alberizzi, Luca Mastracc
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Paola Parente, Umberto Malapelle, Valentina Angerilli, Mariangela Balistreri, Sara Lonardi, Salvatore Pucciarelli, Caterina De Luca, Francesco Pepe, Gianluca Russo, Elena Vigliar, Angela Danza, Fabio Scaramuzzi, Giancarlo Troncone, Paolo Graziano, Matteo
Journal of Clinical Pathology.2023; 76(7): 492. CrossRef - Histomorphological and molecular genetic characterization of different intratumoral regions and matched metastatic lymph nodes of colorectal cancer with heterogenous mismatch repair protein expression
Jing Zhang, Xin Zhang, Qian Wang, Yu-yin Xu, Qian-lan Yao, Dan Huang, Wei-qi Sheng, Xiao-li Zhu, Xiao-yan Zhou, Qian-ming Bai
Journal of Cancer Research and Clinical Oncology.2023; 149(7): 3423. CrossRef - Intraindividual Tumor Heterogeneity of Mismatch Repair Status in Metastatic Colorectal Cancer
Qianpeng Huang, Tao Yu, Lei Li, Qi Zhang, Shiyao Zhang, Baosong Li, Xiaoping Li, Wanyi Xiao, Gang Liu
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Charles Risbey, Timothy Fielder, Daniel Steffens, Joo‐Shik Shin, Michael Solomon
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Hyun-Hee Koh, Eunhyang Park, Hyun-Soo Kim
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Camille Evrard, Stéphane Messina, David Sefrioui, Éric Frouin, Marie-Luce Auriault, Romain Chautard, Aziz Zaanan, Marion Jaffrelot, Christelle De La Fouchardière, Thomas Aparicio, Romain Coriat, Julie Godet, Christine Silvain, Violaine Randrian, Jean-Chri
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