Article
Oncology
Simon Haefliger, Olga Chervova, Christopher Davies, Steven Nottley, Steven Hargreaves, Vaiyapuri P. Sumathi, Fernanda Amary, Roberto Tirabosco, Nischalan Pillay, Stephan Beck, Adrienne M. Flanagan, Iben Lyskjaer
Summary: Epithelioid sarcoma is a rare and aggressive tumor characterized by the loss of SMARCB1 expression. Limited research attention and therapeutic options exist for this disease. Methylation profiling helps distinguish epithelioid sarcoma from other tumors, and immunotherapy may be a promising treatment strategy.
JOURNAL OF PATHOLOGY
(2023)
Article
Oncology
Samuel Rasmussen, Jia Xiang Jin, Lissett R. Bickford, Andrew D. Woods, Felix Sahm, Kenneth A. Crawford, Kiyo Nagamori, Hiroaki Goto, Keila E. Torres, Angelo Sidoni, Erin R. Rudzinski, Khin Thway, Robin L. Jones, Alessio Ciulli, Hollis Wright, Melvin Lathara, Ganapati Srinivasa, Kavya Kannan, Paul H. Huang, Thomas G. P. Grunewald, Noah E. Berlow, Charles Keller
Summary: This study used a functional genomics approach to identify key signaling pathway vulnerabilities in EPS patient samples, revealing subtle differences between distal, pediatric/young adult-associated EPS and proximal, adult-associated EPS. These differences highlight the need to approach the two subtypes as molecularly and clinically distinct diseases.
CLINICAL AND TRANSLATIONAL MEDICINE
(2022)
Review
Cell Biology
Elisa Del Savio, Roberta Maestro
Summary: This review summarizes the pathobiology of epithelioid sarcoma, including defects in chromatin remodeling and other signaling pathways, and their role as therapeutic vulnerabilities.
Article
Pathology
Inigo Espinosa, Emanuela D'Angelo, Louise De Brot, Jaime Prat
Summary: A study revealed that most extrarenal rhabdoid tumors of the vulva are proximal-type epithelioid sarcomas. By analyzing the clinicopathologic, immunohistochemical, and molecular features of these tumors, it was found that they have distinct expressions.
Article
Endocrinology & Metabolism
Priyanka Singh, Sanjay Kumar Bhadada, Divya Dahiya, Uma Nahar Saikia, Ashutosh Kumar Arya, Naresh Sachdeva, Jyotdeep Kaur, Arunanshu Behera, Maria Luisa Brandi, Sudhaker Dhanwada Rao
Summary: The study found that the expression of GCM2 in sporadic parathyroid adenomas is suppressed by promoter hypermethylation and higher levels of H3K9me3. Treatment with DAC can restore GCM2 expression.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Oncology
Jennifer A. Karlow, Siddhartha Devarakonda, Xiaoyun Xing, Hyo Sik Jang, Ramaswamy Govindan, Mark Watson, Ting Wang
Summary: This study identified recurrent methylation patterns in brain metastases of non-small cell lung cancer (NSCLC), which may serve as prognostic biomarkers and contribute to disease progression. The altered DNA methylation was associated with the loss of EZH2 occupancy at developmental genes and changes in epigenetic regulation.
Review
Pathology
Ayako Ura, Tsuyoshi Saito, Toru Motoi, Tatsuya Takagi, Yoshiyuki Suehara, Taisei Kurihara, Kei Sano, Keita Sasa, Takuo Hayashi, Takashi Yao
Summary: Epithelioid sarcoma (EpS) is a rare malignant neoplasm, primarily found in soft tissues with bone involvement being extremely rare. A case of primary distal-type EpS of the lumbar vertebra is reported, with the patient developing lung and subcutaneous metastases post-surgery. The patient eventually died of the disease.
Article
Multidisciplinary Sciences
Buze Chen, Xiaojuan Ding, Ailing Wan, Xin Qi, Xiaoman Lin, Haihong Wang, Wenyu Mu, Gang Wang, Junnian Zheng
Summary: TLX2 plays an important role in multiple tumors and its abnormal expression is associated with a poor overall survival rate in several cancer types. The most common type of alteration in TLX2 is amplification, and it co-occurs with alterations in other genes. TLX2 has high methylation levels in various tumors. Its expression is related to immune infiltration, immune checkpoint genes, and chemoresistance.
SCIENTIFIC REPORTS
(2023)
Article
Neurosciences
Baole Zhang, Xiao Han, Qing Gao, Jie Liu, Saisai Li, Wei Zha, Xiaoyu Wang, Xiaoxiao Guo, Dianshuai Gao
Summary: The study demonstrated that a promoter-targeted dsRNA, specifically targeting the enhancer II region of the GDNF gene, could effectively inhibit the progression of GBM without affecting the normal growth and migration of astrocytes. The dsRNA-induced silencing or activation of gene transcription shows promise as a novel treatment approach for GBM.
BRAIN RESEARCH BULLETIN
(2021)
Article
Medicine, General & Internal
Takashi Yamashita
Summary: This case report presents a rare case of epithelioid sarcoma, which was initially misdiagnosed as metastatic adenocarcinoma. The patient's condition rapidly deteriorated and she died before a proper diagnosis could be made. The authors emphasize the importance of performing histopathological examinations in patients with empyema complicated by neoplastic lesions.
AMERICAN JOURNAL OF CASE REPORTS
(2023)
Article
Genetics & Heredity
Yassire Oubaddou, Mohamed Oukabli, Salma Fenniche, Abderrahim Elktaibi, Mohamed Reda Elochi, Abderrahmane Al Bouzidi, Zineb Qmichou, Nadia Dakka, Caroline Diorio, Antje Richter, Youssef Bakri, Rabii Ameziane El Hassani
Summary: This study investigates the prevalence of BRCA1 promoter methylation in breast tissues and its correlation with clinical and histopathological parameters. The results suggest that BRCA1 promoter hypermethylation is more common in malignant breast tumors and normal adjacent tissues compared to benign breast lesions. Furthermore, the study shows that the BRCA1 hypermethylation group of malignant breast tumors is associated with aggressive features.
Article
Cell Biology
Sangkyun Jeong, Sunwha Cho, Seung Kyoung Yang, Soo A. Oh, Yong-Kook Kang
Summary: Age-associated DNA-methylation drift (AMD) in mammals includes both global decrease (hypomethylation) and local increase of DNA methylation (hypermethylation). This study used reduced-representation-bisulfite-sequencing (RRBS) to analyze the methylation states of CpG dinucleotides in mouse splenic DNA and found that methylation levels of CpGs decreased with age. Promoter-resident CpGs became hypermethylated in old mice, while CpGs in gene-body and intergenic regions became hypomethylated. Methylation heterogeneities increased with age. Higher methylation density was observed in CpG-rich regions and lower methylation density in CpG-poor regions. The study also revealed a correlation between changes in gene expression and methylation patterns, suggesting a potential link between the two age-associated changes.
Article
Multidisciplinary Sciences
Roza H. Ali Masalmeh, Francesca Taglini, Cristina Rubio-Ramon, Kamila I. Musialik, Jonathan Higham, Hazel Davidson-Smith, Ioannis Kafetzopoulos, Kamila P. Pawlicka, Hannah M. Finan, Richard Clark, Jimi Wills, Andrew J. Finch, Lee Murphy, Duncan Sproul
Summary: Aberrant gain of DNA methylation at CpG islands is frequently observed in colorectal tumours, which may silence tumour suppressors like MLH1. By studying ectopically integrated CpG islands in colorectal cancer cells, researchers found that these abnormally methylated CpG islands exhibit low levels of de novo DNA methylation, with the de novo DNA methylation activity primarily targeting CpG islands marked by the histone modification H3K36me3.
NATURE COMMUNICATIONS
(2021)
Article
Fisheries
Mette Hofossaeter, Randi Sorby, Aleksandra Bodura Goksu, Liv Torunn Mydland, Margareth overland, Charles McL. Press
Summary: The effects of experimental diets on the mucosal responses in the distal intestine of Atlantic salmon were investigated. The study found that soybean meal and Cyberlindnera jadinii yeast induced morphological changes and alteration of gene and protein expression in the intestinal mucosa. The study also showed that immune cells, proliferating cells, and stem cell populations in the mucosal compartments were affected by the diets.
FISH & SHELLFISH IMMUNOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Renzo J. M. Riemens, Gunter Kenis, Jennifer Nolz, Sonia C. Susano C. Chaves, Diane Duroux, Ehsan Pishva, Diego Mastroeni, Kristel Van Steen, Thomas Haaf, Daniel L. A. van den Hove
Summary: A novel approach combining LCM and LDBSP is developed to quantify and analyze the DNA methylation patterns of individual genes in neuronal cells. The method proves to be efficient and accurate, providing further validity to this approach in neuroepigenomic studies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
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.
