Article
Oncology
Zhenlin Huang, Bo Tang, Yinhui Yang, Zhaogang Yang, Lei Shi, Yang Bai, Binyuan Yan, R. Jeffrey Karnes, Jun Zhang, Rafael Jimenez, Liguo Wang, Qiang Wei, Jinjian Yang, Wanhai Xu, Zhankui Jia, Haojie Huang
Summary: The study identifies a previously unrecognized tumor suppressive role of the inflammation-activated MAP3K7-IKKβ axis in degrading AR protein. Additionally, the findings suggest that aberrant elevation of AR protein could serve as a prognostic biomarker and therapeutic target for MAP3K7-deficient prostate cancer.
Article
Oncology
Cheng Qian, Dan Li, Yu Chen
Summary: The ETS family of proteins plays critical roles in prostate cancer, and gene fusion and overexpression of certain members have been linked to the development of this cancer. This review provides an overview of the discovery, classification, and therapeutic targeting of ETS family members in prostate cancer.
Article
Biochemistry & Molecular Biology
Francesco Cambuli, Veronica Foletto, Alessandro Alaimo, Dario De Felice, Francesco Gandolfi, Maria Dilia Palumbieri, Michela Zaffagni, Sacha Genovesi, Marco Lorenzoni, Martina Celotti, Emiliana Bertossio, Giosue Mazzero, Arianna Bertossi, Alessandra Bisio, Francesco Berardinelli, Antonio Antoccia, Marco Gaspari, Mattia Barbareschi, Michelangelo Fiorentino, Michael M. Shen, Massimo Loda, Alessandro Romanel, Andrea Lunardi
Summary: This study demonstrates that non-canonical Activin A signaling plays a critical role in maintaining epithelial quiescence in the healthy prostate, with potential implications for understanding cancer initiation and the development of therapies targeting quiescent tumor progenitors.
Article
Pathology
Yuri Tolkach, Romina Zarbl, Simone Bauer, Manuel Ritter, Joerg Ellinger, Stephan Hauser, Laura Hueser, Sabine M. Klauck, Peter Altevogt, Holger Sultmann, Dimo Dietrich, Glen Kristiansen
Summary: CD24 is overexpressed in many human cancers, including prostate cancer, and its up-regulation can be influenced by DNA methylation of the CD24 promoter. Higher levels of CD24 expression are associated with poorer outcomes in prostate cancer patients, including shorter biochemical recurrence-free survival. Overexpression of ERG and PTEN deficiency are also correlated with increased CD24 expression levels in prostate cancer.
AMERICAN JOURNAL OF PATHOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Qiong Wang, Junxiu Chen, Sandeep Singh, Zhongqiu Xie, Fujun Qin, Xinrui Shi, Robert Cornelison, Hui Li, Hai Huang
Summary: This study examined the landscape of chimeric RNAs in different types of prostate cancer cell lines and identified chimeric RNAs specifically expressed in neuroendocrine prostate cancer (NEPC). Experimental validation and in silico analysis showed that these chimeric RNAs may serve as biomarkers for tumor malignancy and poor clinical prognosis.
CELL AND BIOSCIENCE
(2022)
Article
Multidisciplinary Sciences
Eva Shrestha, Jonathan B. Coulter, William Guzman, Busra Ozbek, Megan M. Hess, Luke Mummert, Sarah E. Ernst, Janielle P. Maynard, Alan K. Meeker, Christopher M. Heaphy, Michael C. Haffner, Angelo M. De Marzo, Karen S. Sfanos
Summary: The study suggests that bacterial infections may initiate driver gene alterations in prostate cancer, with infection-induced ERG+ fusions being an early alteration in the carcinogenic process, potentially originating from proliferative inflammatory atrophy as a precursor.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Review
Oncology
Francesca Lorenzin, Francesca Demichelis
Summary: In addition to its role in development and in the vascular and hematopoietic systems, ERG plays a central role in prostate cancer. Inhibiting ERG activity may be a significant step in improving treatment efficacy for patients with ERG-positive prostate tumors.
Article
Oncology
Yingchun Liang, Enlin Rong, Jin Qian, Chenkai Ma, Jimeng Hu
Summary: In this study, the researchers analyzed the transcriptome of 231 patients with metastatic prostate cancer and identified four distinct biological subtypes. They found that the luminal subtype had higher androgen receptor expression and copy number alterations, while genes in the HRR pathway were downregulated in most subtypes except HRR and NE subtypes. The researchers also found that the basal subtype had a higher frequency of the TMPRSS2-ERG fusion.
PROSTATE CANCER AND PROSTATIC DISEASES
(2022)
Article
Pathology
Eric Erak, Lia DePaula Oliveira, Adrianna A. Mendes, Oluwademilade Dairo, Onur Ertunc, Ibrahim Kulac, Javier A. Baena-Del Valle, Tracy Jones, Jessica L. Hicks, Stephanie Glavaris, Gunes Guner, Igor Damasceno Vidal, Mark Markowski, Claire de la Calle, Bruce J. Trock, Avaneesh Meena, Uttara Joshi, Chaith Kondragunta, Saikiran Bonthu, Nitin Singhal, Angelo M. De Marzo, Tamara L. Lotan
Summary: Microscopic examination of prostate cancer has not found a consistent association between molecular and morphologic features. However, deep-learning algorithms trained on hematoxylin and eosin (H & E)-stained whole slide images may be better than human eyes at screening for clinically-relevant genomic alterations. These algorithms can identify prostate tumors with ETS-related gene (ERG) fusions or PTEN deletions.
Review
Biochemistry & Molecular Biology
Ealia Khosh Kish, Muhammad Choudhry, Yaser Gamallat, Sabrina Marsha Buharideen, D. Dhananjaya, Tarek A. Bismar
Summary: The ERG gene is consistently overexpressed in prostate cancer and is mainly due to the fusion of ERG and TMPRSS2 genes. ERG enhances tumor growth by promoting inflammatory and angiogenic responses and is involved in the epithelial-mesenchymal transition, increasing the metastatic ability of prostate cancer.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Oncology
Hyunho Han, Hyung Ho Lee, Kwibok Choi, Young Jun Moon, Ji Eun Heo, Won Sik Ham, Won Sik Jang, Koon Ho Rha, Nam Hoon Cho, Filippo G. Giancotti, Young-Deuk Choi
Summary: The transcriptomic landscape of prostate cancer shows multidimensional variability, potentially reflecting the cell-of-origin and drug sensitivities. Through analysis of gene expression in prostate epithelial cells, four distinct subtypes of prostate adenocarcinoma were identified: luminal A, luminal S, AVPC-I, and AVPC-M, each with unique characteristics and drug resistance patterns. The PSA/PAP ratio in advanced cancer may help determine which patients would benefit from specific treatments.
PROSTATE CANCER AND PROSTATIC DISEASES
(2021)
Article
Oncology
Andrei Daniel Timofte, Irina-Draga Caruntu, Adrian C. Covic, Monica Hancianu, Nona Girlescu, Mariana Bianca Chifu, Simona Eliza Giusca
Summary: Prostate cancer is a common malignancy with diverse clinical outcomes. This study investigated the relationship between renal function and different molecular subtypes of prostate adenocarcinomas. The study analyzed 72 patients with prostate cancer and associated chronic kidney disease who underwent radical prostatectomy. The results showed that the overexpression of SPINK1 was associated with higher kidney disease stages and serum creatinine levels, while TFF3 was linked to kidney function. The study also revealed associations between kidney disease stages and prognostic grade groups in different molecular subtypes, highlighting the complex interplay between kidney function and tumor behavior.
Article
Endocrinology & Metabolism
Longjiang Shao, Jianghua Wang, Omer Karatas, Michael Ittmann
Summary: The study found that in prostate cancer, MEX3D and TCF3 are correlated, and their expression is influenced by decreased PTEN and expression of the TE fusion gene, promoting transformation through certain pathways.
Article
Biochemistry & Molecular Biology
Komal Raina, Rama Kant, Ram R. Prasad, Kushal Kandhari, Munendra Tomar, Neha Mishra, Robin Kumar, Jennifer T. Fox, Shizuko Sei, Robert H. Shoemaker, Yu Chen, Paul Maroni, Chapla Agarwal, Rajesh Agarwal
Summary: This study compared the pathological and molecular markers of TMPRSS2-ERG fusion and PTEN loss-driven versus non-fusion-driven prostate tumorigenesis in mice. The results showed that both mouse models exhibited growth and progression of prostate intraepithelial lesions to adenocarcinoma stages, although at different rates. The TMPRSS2-ERG. Pten(flox/flox) mice had slower initiation of tumorigenesis but faster progression through different stages, while the Hi-Myc(+/)(-) mice had rapid initiation but slower progression. Additionally, high-grade undifferentiated tumors were observed in the Hi-Myc(+/)(-) mice at advanced stages compared to the fusion-driven TMPRSS2-ERG. Pten(flox/flox) mice.
MOLECULAR CARCINOGENESIS
(2022)
Article
Oncology
Tanja Spethmann, Lukas Clemens Boeckelmann, Vera Labitzky, Ann-Kristin Ahlers, Jennifer Schroeder-Schwarz, Sarah Bonk, Ronald Simon, Guido Sauter, Hartwig Huland, Robert Kypta, Udo Schumacher, Tobias Lange
Summary: The junction plakoglobin (JUP) protein has both oncogenic and tumor suppressor functions in prostate cancer, with high expression associated with adverse tumor characteristics and poor prognosis in some patient subsets.
MOLECULAR ONCOLOGY
(2021)
Correction
Biotechnology & Applied Microbiology
Sergei Yakneen, Sebastian M. Waszak, Michael Gertz, Jan O. Korbel, Brice Aminou, Javier Bartolome, Keith A. Boroevich, Rich Boyce, Angela N. Brooks, Alex Buchanan, Ivo Buchhalter, Adam P. Butler, Niall J. Byrne, Andy Cafferkey, Peter J. Campbell, Zhaohong Chen, Sunghoon Cho, Wan Choi, Peter Clapham, Brandi N. Davis-Dusenbery, Francisco M. De La Vega, Jonas Demeulemeester, Michelle T. Dow, Lewis Jonathan Dursi, Juergen Eils, Roland Eils, Kyle Ellrott, Claudiu Farcas, Francesco Favero, Nodirjon Fayzullaev, Vincent Ferretti, Paul Flicek, Nuno A. Fonseca, Josep Ll. Gelpi, Gad Getz, Bob Gibson, Robert L. Grossman, Olivier Harismendy, Allison P. Heath, Michael C. Heinold, Julian M. Hess, Oliver Hofmann, Jongwhi H. Hong, Thomas J. Hudson, Barbara Hutter, Carolyn M. Hutter, Daniel Hubschmann, Seiya Imoto, Sinisa Ivkovic, Seung-Hyup Jeon, Wei Jiao, Jongsun Jung, Rolf Kabbe, Andre Kahles, Jules N. A. Kerssemakers, Hyung-Lae Kim, Hyunghwan Kim, Jihoon Kim, Youngwook Kim, Kortine Kleinheinz, Michael Koscher, Antonios Koures, Milena Kovacevic, Chris Lawerenz, Ignaty Leshchiner, Jia Liu, Dimitri Livitz, George L. Mihaiescu, Sanja Mijalkovic, Ana Mijalkovic Lazic, Satoru Miyano, Naoki Miyoshi, Hardeep K. Nahal-Bose, Hidewaki Nakagawa, Mia Nastic, Steven J. Newhouse, Jonathan Nicholson, Brian D. O'Connor, David Ocana, Kazuhiro Ohi, Lucila Ohno-Machado, Larsson Omberg, B. F. Francis Ouellette, Nagarajan Paramasivam, Marc D. Perry, Todd D. Pihl, Manuel Prinz, Montserrat Puiggros, Petar Radovic, Keiran M. Raine, Esther Rheinbay, Mara Rosenberg, Romina Royo, Gunnar Ratsch, Gordon Saksena, Matthias Schlesner, Solomon I. Shorser, Charles Short, Heidi J. Sofia, Jonathan Spring, Lincoln D. Stein, Adam J. Struck, Grace Tiao, Nebojsa Tijanic, David Torrents, Peter Van Loo, Miguel Vazquez, David Vicente, Jeremiah A. Wala, Zhining Wang, Sebastian M. Waszak, Joachim Weischenfeldt, Johannes Werner, Ashley Williams, Youngchoon Woo, Adam J. Wright, Qian Xiang, Liming Yang, Denis Yuen, Christina K. Yung, Junjun Zhang, Jan O. Korbel
NATURE BIOTECHNOLOGY
(2023)
Article
Biochemistry & Molecular Biology
David Porubsky, Wolfram Hoeps, Hufsah Ashraf, PingHsun Hsieh, Bernardo Rodriguez-Martin, Feyza Yilmaz, Jana Ebler, Pille Hallast, Flavia Angela Maria Maggiolini, William T. Harvey, Barbara Henning, Peter A. Audano, David S. Gordon, Peter Ebert, Patrick Hasenfeld, Eva Benito, Qihui Zhu, Charles Lee, Francesca Antonacci, Matthias Steinrucken, Christine R. Beck, Ashley D. Sanders, Tobias Marschall, Evan E. Eichler, Jan O. Korbel
Summary: Unlike copy number variants, inversions are a less studied form of genetic variation. Through the integration of multiple genomic technologies, researchers have discovered 729 inversions in 41 human genomes. The majority of these inversions are formed through twin-priming during L1 retrotransposition. It is found that inversions have an excess of common variants and a high percentage of them are flanked by segmental duplications or retrotransposons. Additionally, researchers have identified 40 recurrent inversions, accounting for 0.6% of the genome, which exhibit a sex-chromosomal bias and co-localize with genomic disorder critical regions. Recurrent inversions lead to an increase in mutability in the population and predispose specific haplotypes to disease-causing copy number variants.
Article
Urology & Nephrology
Daniel Burns, Ezequiel Anokian, Edward J. Saunders, Robert G. Bristow, Michael Fraser, Juri Reimand, Thorsten Schlomm, Guido Sauter, Benedikt Brors, Jan Korbel, Joachim Weischenfeldt, Sebastian M. Waszak, Niall M. Corcoran, Chol-Hee Jung, Bernard J. Pope, Chris M. Hovens, Geraldine Cancel-Tassin, Olivier Cussenot, Massimo Loda, Chris Sander, Vanessa M. Hayes, Karina Dalsgaard Sorensen, Yong-Jie Lu, Freddie C. Hamdy, Christopher S. Foster, Vincent Gnanapragasam, Adam Butler, Andy G. Lynch, Charlie E. Massie, Dan J. Woodcock, Colin S. Cooper, David C. Wedge, Daniel S. Brewer, Zsofia Kote-Jarai, Rosalind A. Eeles
Summary: This study identified rare genetic mutations that can predict the time to biochemical recurrence in prostate cancer patients after hormonal treatment and revealed the genetic factors associated with such progression.
Article
Oncology
Paulina Richter-Pechanska, Joachim B. Kunz, Tobias Rausch, Busra Erarslan-Uysal, Beat Bornhauser, Viktoras Frismantas, Yassen Assenov, Martin Zimmermann, Margit Happich, Caroline von Knebel-Doeberitz, Nils von Neuhoff, Rolf Kohler, Martin Stanulla, Martin Schrappe, Gunnar Cario, Gabriele Escherich, Renate Kirschner-Schwabe, Cornelia Eckert, Smadar Avigad, Stefan M. Pfister, Martina U. Muckenthaler, Jean-Pierre Bourquin, Jan O. Korbel, Andreas E. Kulozik
Summary: This study investigates the mechanisms of T-ALL relapse and reveals fundamentally different mechanisms driving type-1 and type-2 relapses. Type-1 relapses are characterized by IL7R upregulation, while type-2 relapses involve constitutional cancer predisposition gene mutations, genetic and epigenetic remodeling, and somatic hypermutator phenotypes. The study also finds that T-ALLs that later develop into type-2 relapses already have complex subclonal architecture even at the time of initial diagnosis.
Article
Genetics & Heredity
Jana Ebler, Peter Ebert, Wayne E. Clarke, Tobias Rausch, Peter A. Audano, Torsten Houwaart, Yafei Mao, Jan O. Korbel, Evan E. Eichler, Michael C. Zody, Alexander T. Dilthey, Tobias Marschall
Summary: PanGenie is an alignment-free, k-mer-based tool that uses a haplotype-resolved pangenome reference and k-mer counts from short-read sequencing data to perform fast and accurate genotyping of a wide range of genetic variants. It outperforms mapping-based approaches in terms of speed and genotype concordance, especially for large insertions and variants in repetitive regions.
Article
Biochemistry & Molecular Biology
Ludovica Mercuri, Donato Palmisano, Alberto L'Abbate, Pietro D'Addabbo, Francesco Montinaro, Claudia Rita Catacchio, Patrick Hasenfeld, Mario Ventura, Jan O. Korbel, Ashley D. Sanders, Flavia Angela Maria Maggiolini, Francesca Antonacci
Summary: This study provides a comprehensive analysis of the southern white-cheeked gibbon genome, revealing a large number of small-scale inversions and suggesting their involvement in the rapid evolution and high diversity of gibbons. The study also identifies assembly errors in the current reference genome and lists candidate genes potentially involved in gibbon diversification and speciation.
Article
Oncology
Niclas C. Blessin, Cheng Yang, Tim Mandelkow, Jonas B. Raedler, Wenchao Li, Elena Bady, Ronald Simon, Eik Vettorazzi, Maximilian Lennartz, Christian Bernreuther, Christoph Fraune, Frank Jacobsen, Till Krech, Andreas Marx, Patrick Lebok, Sarah Minner, Eike Burandt, Till S. Clauditz, Waldemar Wilczak, Guido Sauter, Hans Heinzer, Alexander Haese, Thorsten Schlomm, Markus Graefen, Stefan Steurer
Summary: The Ki-67 labeling index (Ki-67 LI) is a strong prognostic marker in prostate cancer. Researchers have developed an automated framework for Ki-67 LI quantification in routine clinical practice, using artificial intelligence analysis steps and distance analysis of multiplex fluorescence immunohistochemistry staining. The Ki-67 LI provided strong prognostic information and showed excellent agreement with manual quantification in prostate biopsies.
JOURNAL OF PATHOLOGY
(2023)
Correction
Multidisciplinary Sciences
Claudia Calabrese, Natalie R. Davidson, Deniz Demircioglu, Nuno A. Fonseca, Yao He, Andre Kahles, Kjong-Van Lehmann, Fenglin Liu, Yuichi Shiraishi, Cameron M. Soulette, Lara Urban, Liliana Greger, Siliang Li, Dongbing Liu, Marc D. Perry, Qian Xiang, Fan Zhang, Junjun Zhang, Peter Bailey, Serap Erkek, Katherine A. Hoadley, Yong Hou, Matthew R. Huska, Helena Kilpinen, Jan O. Korbel, Maximillian G. Marin, Julia Markowski, Tannistha Nandi, Qiang Pan-Hammarstrom, Chandra Sekhar Pedamallu, Reiner Siebert, Stefan G. Stark, Hong Su, Patrick Tan, Sebastian M. Waszak, Christina Yung, Shida Zhu, Philip Awadalla, Chad J. Creighton, Matthew Meyerson, B. F. Francis Ouellette, Kui Wu, Huanming Yang, Alvis Brazma, Angela N. Brooks, Jonathan Goeke, Gunnar Raetsch, Roland F. Schwarz, Oliver Stegle, Zemin Zhang
Article
Biotechnology & Applied Microbiology
Hyobin Jeong, Karen Grimes, Kerstin K. Rauwolf, Peter-Martin Bruch, Tobias Rausch, Patrick Hasenfeld, Eva Benito, Tobias Roider, Radhakrishnan Sabarinathan, David Porubsky, Sophie A. Herbst, Busra Erarslan-Uysal, Johann-Christoph Jann, Tobias Marschall, Daniel Nowak, Jean-Pierre Bourquin, Andreas E. Kulozik, Sascha Dietrich, Beat Bornhauser, Ashley D. Sanders, Jan O. Korbel
Summary: This study introduces a computational method called scNOVA, which utilizes Strand-seq to analyze structural variations in single cells and infer gene expression. The research reveals the impact of structural variations on gene regulation and signaling pathways, and successfully applies the method to the study of chronic lymphocytic leukemia and T cell acute lymphoblastic leukemia.
NATURE BIOTECHNOLOGY
(2023)
Article
Biochemistry & Molecular Biology
David R. Porubsky, Mitchell T. Vollger, William N. Harvey, Allison Rozanski, Peter Ebert, Glenn Hickey, Patrick D. Hasenfeld, Ashley Sanders, Catherine O. Stober, Jan Korbel, Benedict E. Paten, Tobias Marschall, Evan Eichler
Summary: There has been significant progress in phased genome assembly by combining long-read data with parental information or linked-read data. However, the typical phased genome assembly still has over 140 gaps. A detailed analysis of 182 haploid assemblies reveals that the majority of assembly gaps cluster near large and identical repeats, resulting in disrupted protein-coding genes. Misorientations and alignment discontinuities are also identified, highlighting the need for algorithmic development and pangenome representation.
Article
Oncology
Elena Bady, Katharina Moller, Tim Mandelkow, Jonas B. Raedler, Cheng Yang, Julia Ebner, Magalie C. J. Lurati, Ronald Simon, Eik Vettorazzi, Franziska Buscheck, Andreas M. Luebke, David Dum, Anne Menz, Guido Sauter, Doris Hoflmayer, Soren Weidemann, Christoph Fraune, Ria Uhlig, Christian Bernreuther, Frank Jacobsen, Till S. Clauditz, Waldemar Wilczak, Eike Burandt, Stefan Steurer, Sarah Minner, Maximilian Lennartz, Niclas C. Blessin
Summary: Researchers have developed a BLEACH&STAIN mfIHC method that allows simultaneous analysis of 15 biomarkers in tumor samples. They have also found that PD-L1 expression is associated with immune cell infiltration and PD-1 expression on T cells. In breast cancer, the fluorescence intensity of PD-L1 on tumor cells has better predictive performance for overall survival compared to the percentage of PD-L1+ tumor cells.
MOLECULAR CANCER RESEARCH
(2023)
Correction
Cell Biology
Adam Karoutas, Witold Szymanski, Tobias Rausch, Sukanya Guhathakurta, Eva A. Rog-Zielinska, Remi Peyronnet, Janine Seyfferth, Hui-Ru Chen, Rebecca de Leeuw, Benjamin Herquel, Hiroshi Kimura, Gerhard Mittler, Peter Kohl, Ohad Medalia, Jan O. Korbel, Asifa Akhtar
NATURE CELL BIOLOGY
(2023)
Article
Medicine, General & Internal
Natalia Gorbokon, Patrick Timm, David Dum, Anne Menz, Franziska Buescheck, Cosima Voelkel, Andrea Hinsch, Maximilian Lennartz, Andreas M. Luebke, Claudia Hube-Magg, Christoph Fraune, Till Krech, Patrick Lebok, Till S. Clauditz, Frank Jacobsen, Guido Sauter, Ria Uhlig, Stefan Steurer, Sarah Minner, Andreas H. Marx, Ronald Simon, Eike Burandt, Christian Bernreuther, Doris Hoeflmayer
Summary: Human mammaglobin-A is a secretory protein used as a diagnostic marker for breast cancer but it can also be expressed in other tumors. A study analyzed a tissue microarray containing samples from various tumor types and normal tissues to study the expression patterns of mammaglobin-A. The results showed that mammaglobin-A was highly specific to tumors derived from the breast, female genitals, or salivary gland.
Article
Medicine, General & Internal
Laura Sophie Tribian, Maximilian Lennartz, Doris Hoeflmayer, Noemi de Wispelaere, Sebastian Dwertmann Rico, Clara von Bargen, Simon Kind, Viktor Reiswich, Florian Viehweger, Florian Lutz, Veit Bertram, Christoph Fraune, Natalia Gorbokon, Soeren Weidemann, Claudia Hube-Magg, Anne Menz, Ria Uhlig, Till Krech, Andrea Hinsch, Eike Burandt, Guido Sauter, Ronald Simon, Martina Kluth, Stefan Steurer, Andreas H. Marx, Patrick Lebok, David Dum, Sarah Minner, Frank Jacobsen, Till S. Clauditz, Christian Bernreuther
Summary: Prostate-specific acid phosphatase (PSAP) is a marker for prostate cancer and its expression is limited in normal tissues but higher in prostate cancers. The expression level of PSAP is associated with clinical characteristics and prognosis of prostate cancer, making it a potential marker for prognostic evaluation.
Article
Hematology
Cristina Lopez, Nikolai Schleussner, Stephan H. Bernhart, Kortine Kleinheinz, Stephanie Sungalee, Henrike L. Sczakiel, Helene Kretzmer, Umut H. Toprak, Selina Glaser, Rabea Wagener, Ole Ammerpohl, Susanne Bens, Maciej Giefing, Juan C. Gonzalez Sanchez, Gordana Apic, Daniel Huebschmann, Martin Janz, Markus Kreuz, Anja Mottok, Judith M. Mueller, Julian Seufert, Steve Hoffmann, Jan O. Korbel, Robert B. Russell, Roland Schuele, Lorenz Truemper, Wolfram Klapper, Bernhard Radlwimmer, Peter Lichter, Ralf Kueppers, Matthias Schlesner, Stephan Mathas, Reiner Siebert
Summary: Histone methylation-modifiers, including EZH2 and KMT2D, are frequently altered in B-cell lymphomas. In this study, we examined the whole genome and transcriptome data of 186 cases and identified recurrent alterations in KDM4C, a histone demethylase encoding gene on chromosome 9p24. We demonstrated that these structural variants in KDM4C result in loss-of-function and provide evidence that KDM4C can act as a tumor suppressor. Thus, our findings expand the mutational landscape of lymphomas and highlight the importance of KDM4C in B-cell derived lymphomas.
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.