Article
Oncology
In Ae Kim, Jae Young Hur, Hee Joung Kim, Jung Hoon Park, Jae Joon Hwang, Song Am Lee, Seung Eun Lee, Wan Seop Kim, Kye Young Lee
Summary: Targeted NGS was used to identify genetic alterations predicting recurrence in early-stage lung adenocarcinoma. CTNNB1 mutation and fusion genes (ALK, ROS1, RET) were negative prognostic factors, while EGFR mutation was favorable. TP53 mutation was a negative predictor compared to EGFR mutation for recurrence.
ANNALS OF SURGICAL ONCOLOGY
(2021)
Article
Oncology
Min Ruan, Lipeng Liu, Benquan Qi, Xiaoyan Chen, Lixian Chang, Aoli Zhang, Fang Liu, Shuchun Wang, Xiaoming Liu, Xiaojuan Chen, Li Zhang, Ye Guo, Yao Zou, Yingchi Zhang, Yumei Chen, LiXia Liu, Shanbo Cao, Feng Lou, Chengcheng Wang, Xiaofan Zhu
Summary: This study validates the diagnostic role of circulating tumor DNA in pediatric AML based on next-generation sequencing, showing that ctDNA can mirror genomic information from bone marrow and detect mutations exclusively. Monitoring ctDNA with NGS-based assays provides valuable information for precision treatment in pediatric AML.
FRONTIERS IN ONCOLOGY
(2021)
Article
Oncology
Min-Ying Sun, Fang-Qin Lin, Lu-Jia Chen, Hong Li, Wei-Quan Lin, Hong-Yan Du, Xue-Xi Yang, Ming Li
Summary: Liquid biopsy by detecting circulating tumor DNA (ctDNA) has potential advantages in cancer monitoring and prediction, serving as a potential biomarker for evaluation, prediction, and clinical management guidance of metastatic breast cancer patients undergoing chemotherapy. Results show that ctDNA mutation levels are associated with tumor size, HER2 status, and poor survival outcomes, indicating its potential in assessing treatment efficacy and guiding clinical decisions.
Article
Oncology
Panagiota Economopoulou, Aris Spathis, Ioannis Kotsantis, Eirini Maratou, Maria Anastasiou, Myrto K. Moutafi, Maria Kirkasiadou, Anastasios Pantazopoulos, Maria Giannakakou, Daniel L. Edelstein, Hillary Sloane, Johannes Fredebohm, Frederick S. Jones, Anastasios Kyriazoglou, Niki Gavrielatou, Periklis Foukas, Ioannis Panayiotides, Amanda Psyrri
Summary: The aim of this pilot study was to evaluate somatic mutations in tumor and circulating DNA samples from HNSCC patients and assess the association of changes in ctDNA levels with survival. The study included 62 HNSCC patients treated with surgery or radical chemoradiotherapy. Tumor DNA was extracted from plasma and tumor tissue, and the presence of pathogenic variants in four genes was assessed.
Article
Genetics & Heredity
Yu Jeong Choi, Hongkyung Kim, Won Kee Ahn, Seung-Tae Lee, Jung Woo Han, Jong Rak Choi, Chuhl Joo Lyu, Seungmin Hahn, Saeam Shin
Summary: Hereditary hemolytic anemia (HHA) is a group of genetic disorders characterized by the destruction of circulating red blood cells. Incorporation of next-generation sequencing (NGS) has proven to be a valuable tool in the diagnostic process of HHA.
BMC MEDICAL GENOMICS
(2023)
Article
Biotechnology & Applied Microbiology
Dandan Wang, Kai Ma, Wei Deng, Jingyu Li, Shaohua Xiang, Yang Zhang, Ying Fu, Heng Dai, Bingding Huang
Summary: This study developed a custom-targeted NGS panel for accurately detecting various genomic alterations in cancer patients, providing strong support for guiding targeted therapy decisions.
ONCOTARGETS AND THERAPY
(2021)
Article
Genetics & Heredity
Yunlong Li, Jie Su, Jingman Zhang, Jiahong Pei, Dongmei Li, Yinhong Zhang, Jingyu Li, Menglang Chen, Baosheng Zhu
Summary: This study used targeted next-generation sequencing to identify pathogenic mutations in 84 deaf patients in southwestern China. Common and novel causative genes were found, highlighting the importance of further studying the spectrum of deafness genes in this region.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Oncology
Chul Seung Lee, Hoon Seok Kim, Jeoffrey Schageman, In Kyu Lee, Myungshin Kim, Yonggoo Kim
Summary: Circulating tumor DNA (ctDNA) is a minimally invasive biomarker that can be analyzed using next-generation sequencing (NGS) to evaluate its clinical and analytical performance in colorectal cancer (CRC) patients. Postoperative ctDNA detection can serve as a valuable marker for identifying the risk of recurrence or persistent tumor lesions in patients with CRC.
Article
Oncology
Masato Kojima, Takanori Harada, Takahiro Fukazawa, Sho Kurihara, Ryo Touge, Isamu Saeki, Shinya Takahashi, Eiso Hiyama
Summary: In this study, single-cell next-generation sequencing of circulating tumor cells (CTCs) from neuroblastoma (NB) patients was performed. The findings showed that the isolation rate of CTCs was associated with disease progression, and single-cell RNA sequencing revealed upregulated genes related to angiogenesis and cell cycle in CTCs. These results indicate the utility of single-cell CTC sequencing in characterizing NB tumor biology and metastasis mechanisms.
Article
Biochemistry & Molecular Biology
Paolo Rosa, Elena De Falco, Luca Pacini, Amedeo Piazza, Paolo Ciraci, Luca Ricciardi, Francesco Fiorentino, Sokol Trungu, Massimo Miscusi, Antonino Raco, Antonella Calogero
Summary: This study investigated the feasibility of analyzing the genomic profile of grade IV glioblastoma patients using circulating extracellular vesicles (EVs). The findings revealed lower DNA content in EVs of glioblastoma patients compared to controls, and consistent mutations in the NF1 gene. These results support the clinical utility of EVs as a tool for personalized medicine in glioblastoma.
Article
Medical Laboratory Technology
Calixto-Hope G. Lucas, James P. Grenert, Andrew Horvai
Summary: Dedifferentiated chondrosarcoma is a rare adult bone tumor with a poor prognosis, characterized by genetic and molecular events that may drive progression from conventional chondrosarcoma to high-grade nonchondrogenic sarcoma. IDH1/2, COL2A1, and TERT mutations are common in dedifferentiated chondrosarcomas, potentially representing early events in progression.
ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE
(2021)
Article
Endocrinology & Metabolism
Athanasia Stoupa, Ghada Al Hage Chehade, Rim Chaabane, Dulanjalee Kariyawasam, Gabor Szinnai, Sylvain Hanein, Christine Bole-Feysot, Cecile Fourrage, Patrick Nitschke, Caroline Thalassinos, Graziella Pinto, Mouna Mnif, Sabine Baron, Marc De Kerdanet, Rachel Reynaud, Pascal Barat, Mongia Hachicha, Neila Belguith, Michel Polak, Aurore Carre
Summary: In this study, targeted next-generation sequencing was used to study a cohort of 19 well-characterized patients with Congenital Hypothyroidism and Dyshormonogenesis, identifying likely disease-causing mutations in 53% of patients, with TG mutations being the most common genetic defect. Targeted next-generation sequencing provides a rapid and cost-effective genetic diagnosis in patients with Congenital Hypothyroidism due to Dyshormonogenesis.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Oncology
Ana Barbosa, Pedro Pinto, Ana Peixoto, Joana Guerra, Manuela Pinheiro, Catarina Santos, Carla Pinto, Carla Escudeiro, Carla Bartosch, Rui Santos, Andreia Brandao, Joao Silva, Manuel R. Teixeira
Summary: Genetic testing for somatic alterations in ovarian cancer patients can be effectively done through ctDNA analysis, with potential implications for targeted therapy. This study highlights the importance of using NGS-based ctDNA testing to stratify patients and predict treatment outcomes.
FRONTIERS IN ONCOLOGY
(2021)
Article
Oncology
Russell J. Diefenbach, Jenny H. Lee, Ashleigh Stewart, Alexander M. Menzies, Matteo S. Carlino, Robyn P. M. Saw, Jonathan R. Stretch, Georgina V. Long, Richard A. Scolyer, Helen Rizos
Summary: This study developed a custom panel for detecting TERT promoter mutations in ctDNA from melanoma patients. Analysis of patient samples showed a high detection rate for BRAF, NRAS, and TERT promoter mutations, and the panel demonstrated consistency with tissue biopsies.
FRONTIERS IN ONCOLOGY
(2022)
Article
Oncology
Ning Jiang, Jie Zhou, Wenhao Zhang, Peichao Li, Yu Liu, Hubo Shi, Chengke Zhang, Yunshan Wang, Chengjun Zhou, Chuanliang Peng, Weiquan Zhang, Yingtao Hao, Qifeng Sun, Yuliang Li, Xiaogang Zhao
Summary: The study found that the RNF213 gene mutated more frequently in lung cancer compared to benign pulmonary nodules both in peripheral blood and tumor tissue. Detection of RNF213 gene mutation in peripheral blood may be a highly specific method for assisting in the early diagnosis of lung cancer in pulmonary nodules.
Article
Pathology
Sinchita Roy-Chowdhuri, Meenakshi Mehrotra, Ana Maria Bolivar, Rashmi Kanagal-Shamanna, Bedia A. Barkoh, Brette Hannigan, Stephanie Zalles, Wenrui Ye, Dzifa Duose, Russell Broaddus, Gregg Staerkel, Ignacio Wistuba, L. Jeffrey Medeiros, Rajyalakshmi Luthra
Article
Oncology
B. Hannigan, W. Ye, M. Mehrotra, V Lam, A. Bolivar, S. Zalles, B. A. Barkoh, D. Duose, P. C. Hu, R. Broaddus, J. Stewart, J. Heymach, L. J. Medeiros, I Wistuba, R. Luthra, S. Roy-Chowdhuri
ANNALS OF ONCOLOGY
(2019)
Article
Pathology
Juliana Mota Siqueira, Yoshitsugu Mitani, Camilla Oliveira Hoff, Flavia Bonini, Luana Guimaraes de Sousa, Mario L. Marques-Piubelli, Anurag Purushothaman, Mutsumi Mitani, Hui Dai, Shiaw-Yih Lin, Michael T. Spiotto, Ehab Y. Hanna, Daniel J. McGrail, Adel K. El-Naggar, Renata Ferrarotto
Summary: B7-H4 expression pattern varies among different types of salivary gland carcinomas, and high B7-H4 expression is associated with poor prognosis in adenoid cystic carcinoma.
Article
Pathology
Basile Tessier-Cloutier, Felix K. F. Kommoss, David L. Kolin, Kristyna Nemejcova, Dupreez Smith, Jennifer Pors, Colin J. R. Stewart, W. Glenn Mccluggage, William D. Foulkes, Andreas von Deimling, Martin Kobel, Cheng-Han Lee
Summary: This study provides a detailed analysis of the clinical, pathological, immunohistochemical, and molecular features of DDOC/UDOC. The majority of patients presented with extraovarian disease and had rapid disease progression resulting in high mortality rate.
Review
Pathology
Sophia J. Wagner, Christian Matek, Sayedali Shetab Boushehri, Melanie Boxberg, Lorenz Lamm, Ario Sada, Dominik J. E. Winter, Carsten Marr, Tingying Peng
Summary: Computational pathology research driven by deep learning faces challenges in reproducibility and reusability. Codebase with good documentation and robustness and generalizability of models are crucial. The reuse of computational pathology algorithms is limited, and their application in clinical settings is even rarer. This study evaluates 160 peer-reviewed articles, providing criteria for data and code availability and statistical analysis of results.
Article
Pathology
Andres M. Acosta, Lynette M. Sholl, Fiona Maclean, Chia-Sui Kao, Thomas M. Ulbright
Summary: This study assessed the clinicopathologic and genomic features of 14 cases of testicular sex cord-stromal tumors. The results showed that CTNNB1 mutations are rare in these tumors, and most of them have genomic alterations similar to testicular sex cord-stromal tumors with pure or predominant spindle cell components.
Article
Pathology
Toru Odate, Kaishi Satomi, Takashi Kubo, Yuko Matsushita, Toshihide Ueno, Akira Kurose, Kohei Shomori, Tokiko Nakai, Reiko Watanabe, Keiko Segawa, Shusa Ohshika, Naritomo Miyake, Sayaka Kudo, Tatsunori Shimoi, Eisuke Kobayashi, Motokiyo Komiyama, Seiichi Yoshimoto, Fumihiko Nakatani, Akira Kawai, Yasushi Yatabe, Shinji Kohsaka, Koichi Ichimura, Hitoshi Ichikawa, Akihiko Yoshida
Summary: Inflammatory rhabdomyoblastic tumors (IRMTs) are newly recognized skeletal muscle tumors with uncertain malignant potential. This study investigated 13 IRMTs using clinicopathologic, genetic, and epigenetic methods. The results showed specific histologic features and genetic mutations in these tumors, and most of them exhibited benign behavior.
Article
Pathology
Dale L. Davis, Adam C. Lechner, David B. Chapel, Jonathan C. Slack, Chrystalle Katte Carreon, Bradley J. Quade, Carlos Parra-Herran
Summary: The Amsterdam Consensus Statement introduced the term maternal vascular malperfusion (MVM) to classify a group of findings related to impaired maternal-placental circulation. The study found that features such as low placental weight, accelerated villous maturation, decidual arteriopathy, and infarcts are associated with adverse obstetrical outcomes, while the role of other features like distal villous hypoplasia, excess multinucleated trophoblast, and retroplacental hemorrhage needs further research.
Review
Pathology
Alain C. Borczuk
Summary: COVID-19 is an acute respiratory illness that can progress to acute respiratory distress syndrome. While most patients recover completely, some may experience persistent respiratory dysfunction, known as long COVID. The pathogenesis involves immune and cellular disturbances.
Article
Pathology
Annikka Weissferdt, Cheuk H. Leung, Heather Lin, Boris Sepesi, William N. William, Stephen G. Swisher, Tina Cascone, J. Jack Lee, Abujiang Pataer
Summary: Neoadjuvant treatment of non-small cell lung cancer challenges traditional processing of pathology specimens, and accurate evaluation of residual tumor is crucial for assessing treatment efficacy.