Review
Genetics & Heredity
Habiba Abdelhalim, Asude Berber, Mudassir Lodi, Rihi Jain, Achuth Nair, Anirudh Pappu, Kush Patel, Vignesh Venkat, Cynthia Venkatesan, Raghu Wable, Matthew Dinatale, Allyson Fu, Vikram Iyer, Ishan Kalove, Marc Kleyman, Joseph Koutsoutis, David Menna, Mayank Paliwal, Nishi Patel, Thirth Patel, Zara Rafique, Rothela Samadi, Roshan Varadhan, Shreyas Bolla, Sreya Vadapalli, Zeeshan Ahmed
Summary: Precision medicine uses clinical and genomic data to improve health outcomes for chronic diseases. It considers individual differences in treatment response and integrates knowledge from various fields to personalize treatments and predict diseases.
FRONTIERS IN GENETICS
(2022)
Review
Oncology
Richard Rosenquist, Edwin Cuppen, Reinhard Buettner, Carlos Caldas, Helene Dreau, Olivier Elemento, Geert Frederix, Sean Grimmond, Torsten Haferlach, Vaidehi Jobanputra, Manja Meggendorfer, Charles G. Mullighan, Sarah Wordsworth, Anna Schuh
Summary: Precision diagnostics is an important aspect of precision medicine, and whole-genome sequencing can be used to predict and respond to cancer treatment. National initiatives aim to introduce clinical whole-genome sequencing as a rational and effective diagnostic tool, but there is a lack of systematic evaluation of the clinical utility of whole-genome sequencing.
SEMINARS IN CANCER BIOLOGY
(2022)
Article
Oncology
Aurelie Tomczak, Christoph Springfeld, Michael T. Dill, De-Hua Chang, Daniel Kazdal, Ursula Wagner, Arianeb Mehrabi, Antje Brockschmidt, Tom Luedde, Patrick Naumann, Albrecht Stenzinger, Peter Schirmacher, Thomas Longerich
Summary: This study applied molecular profiling of intrahepatic cholangiocarcinoma in combination with a comprehensive umbrella concept in a real-world setting. The analysis showed a detection rate of genetic alterations in 77% of patients and molecular targets in 59% of patients. Patients receiving molecular-matched treatment showed significantly higher survival probability compared to those receiving conventional chemotherapy only.
BRITISH JOURNAL OF CANCER
(2022)
Review
Medicine, General & Internal
Karin Wallander, Ingegerd Oefverholm, Kjetil Boye, Panagiotis Tsagkozis, Andri Papakonstantinou, Yingbo Lin, Felix Haglund de Flon
Summary: Sarcoma subtype classification is currently based on histopathological morphology, but molecular analyses are becoming an important addition to sarcoma diagnostics and treatment. Molecular markers can support diagnostic workup, suggest differential diagnoses, and identify therapeutic targets. However, the use of molecular markers in sarcoma prognosis is still limited. Understanding the limitations and context of sequencing technologies is crucial for accurate interpretation of genetic findings in sarcoma diagnostics. The increasing availability of massive-parallel sequencing is expected to be utilized more in sarcoma treatment centers in the future.
JOURNAL OF INTERNAL MEDICINE
(2023)
Review
Pharmacology & Pharmacy
Shiyao Gu, Qingyong Luo, Cen Wen, Yu Zhang, Li Liu, Liu Liu, Su Liu, Chunhua Chen, Qian Lei, Si Zeng
Summary: This article reviews the application and progress of precision medicine in anesthesia, specifically focusing on nanotechnology, genomics, and 3D printing. It aims to provide a deeper understanding of the potential impact of these advanced technologies on improving anesthesia techniques and advancing precision medicine in the field of anesthesia.
Article
Oncology
Mirjam Blattner-Johnson, David T. W. Jones, Elke Pfaff
Summary: Despite advances in diagnosing and treating pediatric cancers, it remains a leading cause of childhood death in developed countries. The heterogeneity of tumor types in children, which differ from adult carcinomas, has made understanding the underlying biology and developing targeted treatments difficult. Additionally, the pharmaceutical industry has been reluctant to develop products for this population due to market size. However, recent changes in science and regulation are addressing these challenges.
SEMINARS IN CANCER BIOLOGY
(2022)
Review
Medicine, General & Internal
Tove Wasterlid, Lucia Cavelier, Claudia Haferlach, Marina Konopleva, Stefan Froehling, Paivi Ostling, Lars Bullinger, Thoas Fioretos, Karin E. Smedby
Summary: Precision medicine is improving patient care in cancer by utilizing specific genetic knowledge for accurate diagnosis and treatment choices. However, the complex genetic landscape of hematological malignancies poses challenges for implementing precision medicine.
JOURNAL OF INTERNAL MEDICINE
(2022)
Review
Oncology
Mohammed I. Quraishi
Summary: Precision oncology utilizes molecular profiling to guide therapeutic interventions, and radiomic analysis can depict molecular mechanisms and correlate with genetic alterations. Combining these two approaches can be beneficial in the management of colorectal cancer.
FRONTIERS IN ONCOLOGY
(2022)
Review
Genetics & Heredity
Muin J. Khoury, Scott Bowen, W. David Dotson, Emily Drzymalla, Ridgely F. Green, Robert Goldstein, Katherine Kolor, Leandris C. Liburd, Laurence S. Sperling, Rebecca Bunnell
Summary: Recent reviews highlight the importance of a health equity agenda in genomics research, which goes beyond research studies. To ensure improved health outcomes for all, public health actions are needed to address disparities in implementation of genomics and precision medicine.
GENETICS IN MEDICINE
(2022)
Article
Oncology
Brendan Reardon, Nathanael D. Moore, Nicholas S. Moore, Eric Kofman, Saud H. AlDubayan, Alexander T. M. Cheung, Jake Conway, Haitham Elmarakeby, Alma Imamovic, Sophia C. Kamran, Tanya Keenan, Daniel Keliher, David J. Konieczkowski, David Liu, Kent W. Mouw, Jihye Park, Natalie Vokes, Felix Dietlein, Eliezer M. Van Allen
Summary: The MOAlmanac is a clinical interpretation algorithm and knowledge base for personalized cancer treatment, enabling decision-making and hypothesis generation. Testing showed an increase in the number of clinical hypotheses and nominated therapies for patients. This computational method provides support for integrated clinical interpretation of individualized molecular profiles.
Review
Transplantation
Rainer Oberbauer, Timothy W. Meyer
Summary: Precision medicine has been applied in kidney transplantation, where genotyping and antibody detection are used to evaluate sensitivity to immune antigens. Treatment individualization through dosing adjustments is possible. In contrast, hemodialysis prescription lacks precision, relying on outdated standards rather than personalized needs.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2021)
Review
Pharmacology & Pharmacy
Jovany Cruz Navarro, Lucido L. Ponce Mejia, Claudia Robertson
Summary: Traumatic brain injury is a leading cause of death and disability worldwide, and predicting outcomes and finding effective treatments remain challenging. Current prediction models lack biomarkers and other variables, and the effectiveness of invasive neuromonitoring is uncertain. Precision medicine, which takes into account individual variability, shows promise in the field of TBI.
FRONTIERS IN PHARMACOLOGY
(2022)
Article
Mathematical & Computational Biology
Xueping Quan, Weijing Cai, Chenghang Xi, Chunxiao Wang, Linghua Yan
Summary: The development of high-throughput molecular testing techniques enables the exploration of the underlying molecular causes of diseases and targeted treatment for genetic alterations. AIMedGraph collects and interrogates standardized information about genes, genetic alterations, and their therapeutic and diagnostic relevance to build a multi-relational knowledge graph.
DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION
(2023)
Article
Public, Environmental & Occupational Health
Niccolo Tempini, Sabina Leonelli
Summary: This paper examines the actionability and trust of genomic data in medical research, discussing the case of COSMIC as a leading cancer genomics database and comparing exploratory and diagnostics research. Researchers highlight various questions and concerns when using genomic data in different situations, while also acknowledging similarities in evaluation and re-use strategies.
SOCIAL SCIENCE & MEDICINE
(2021)
Review
Medical Laboratory Technology
Ziyad Khatab, George M. Yousef
Summary: Disruptive innovation introduces new values that disrupt existing markets and create new ones, with wide applications in laboratory medicine. Overcoming challenges from current technology providers, regulatory bodies, health care providers, and insurance companies is crucial in fostering disruptive innovation.
CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES
(2021)
Article
Veterinary Sciences
Simone de Brot, Jennifer Lothion-Roy, Llorenc Grau-Roma, Emily White, Franco Guscetti, Mark A. Rubin, Nigel P. Mongan
Summary: The histomorphology and expression of neuroendocrine markers in canine prostate cancer show specific features, associated with inflammation and urothelial differentiation. The study reports for the first time the expression of the neuroendocrine marker NSE and the finding of intraductal carcinoma of the prostate in dogs with prostate cancer.
VETERINARY AND COMPARATIVE ONCOLOGY
(2022)
Article
Chemistry, Multidisciplinary
Matthew J. Mosquera, Sungwoong Kim, Rohan Bareja, Zhou Fang, Shuangyi Cai, Heng Pan, Muhammad Asad, Maria Laura Martin, Michael Sigouros, Florencia M. Rowdo, Sarah Ackermann, Jared Capuano, Jacob Bernheim, Cynthia Cheung, Ashley Doane, Nicholas Brady, Richa Singh, David S. Rickman, Varun Prabhu, Joshua E. Allen, Loredana Puca, Ahmet F. Coskun, Mark A. Rubin, Himisha Beltran, Juan Miguel Mosquera, Olivier Elemento, Ankur Singh
Summary: This study defined the role of ECM signals in the development of CRPC-NEPC and identified potential therapeutic targets for neuroendocrine prostate cancer. In animal models, strong anti-tumor responses were observed with the use of a DRD2 inhibitor, and a combination of epigenetic inhibitors and DRD2 treatment was shown to overcome therapeutic resistance in CRPC-NEPC under drug-resistant ECM conditions.
ADVANCED MATERIALS
(2022)
Review
Oncology
Ursula M. Vogl, Tomasz M. Beer, Ian D. Davis, Neal D. Shore, Christopher J. Sweeney, Piet Ost, Gerhardt Attard, Alberto Bossi, Johann de Bono, Charles G. Drake, Eleni Efstathiou, Stefano Fanti, Karim Fizazi, Susan Halabi, Nicolas James, Nicolas Mottet, Anwar R. Padhani, Mack Roach, Mark Rubin, Oliver Sartor, Eric Small, Matthew R. Smith, Howard Soule, Matthew R. Sydes, Bertrand Tombal, Aurelius Omlin, Silke Gillessen
Summary: This article discusses the lack of consensus on clinical management issues in advanced prostate cancer addressed at the Advanced Prostate Cancer Consensus Conference. By reviewing ongoing clinical trials, it is found that many unresolved questions remain. The article emphasizes that the lack of consensus indicates gaps in existing evidence and calls for robust clinical trials to fill these gaps.
EUROPEAN JOURNAL OF CANCER
(2022)
Article
Urology & Nephrology
Fabio Turco, Andrew Armstrong, Gerhardt Attard, Tomasz M. Beer, Himisha Beltran, Anders Bjartell, Alberto Bossi, Alberto Briganti, Rob G. Bristow, Muhammad Bulbul, Orazio Caffo, Kim N. Chi, Caroline Clarke, Noel Clarke, Ian D. Davis, Johann de Bono, Ignacio Duran, Ros Eeles, Eleni Efstathiou, Jason Efstathiou, Christopher P. Evans, Stefano Fanti, Felix Y. Feng, Karim Fizazi, Mark Frydenberg, Dan George, Martin Gleave, Susan Halabi, Daniel Heinrich, Celestia Higano, Michael S. Hofman, Maha Hussain, Nicholas James, Rob Jones, Ravindran Kanesvaran, Raja B. Khauli, Laurence Klotz, Raya Leibowitz, Christopher Logothetis, Fernando Maluf, Robin Millman, Alicia K. Morgans, Michael J. Morris, Nicolas Mottet, Hind Mrabti, Declan G. Murphy, Vedang Murthy, William K. Oh, Ngozi Ekeke Onyeanunam, Piet Ost, Joe M. O'Sullivan, Anwar R. Padhani, Christopher Parker, Darren M. C. Poon, Colin C. Pritchard, Danny M. Rabah, Dana Rathkopf, Robert E. Reiter, Mark Rubin, Charles J. Ryan, Fred Saad, Juan Pablo Sade, Oliver Sartor, Howard Scher, Neal Shore, Iwona Skoneczna, Eric Small, Matthew Smith, Howard Soule, Daniel Spratt, Cora N. Sternberg, Hiroyoshi Suzuki, Christopher Sweeney, Matthew Sydes, Mary-Ellen Taplin, Derya Tilki, Bertrand Tombal, Levent Turkeri, Hiroji Uemura, Hirotsugu Uemura, Inge van Oort, Kosj Yamoah, Dingwei Ye, Almudena Zapatero, Silke Gillessen, Aurelius Omlin
Summary: This article discusses the optimal management of advanced prostate cancer patients during the COVID-19 pandemic. The study results indicate a consensus for full COVID-19 vaccination and booster injection, and the vaccination status influences the expert's treatment recommendations. Additionally, there is strong support for the use of telemedicine in monitoring patients.
Article
Oncology
Chantal Pauli, Lamberto De Boni, Jonathan E. Pauwels, Yanjiang Chen, Lara Planas-Paz, Reid Shaw, Brooke M. Emerling, Carla Grandori, Benjamin D. Hopkins, Mark A. Rubin
Summary: In this study, a functional precision oncology approach was implemented to identify tumor-specific drug sensitivities for patients with rare tumor types such as myxofibro-sarcoma. Comprehensive genomic profiling and high-throughput drug screening were used to identify therapeutic options and validate them in patient-derived xenograft models. Targeting the cell cycle was found to be a powerful approach in these tumors.
MOLECULAR CANCER RESEARCH
(2022)
Article
Medicine, Research & Experimental
Jacqueline Fontugne, Peter Y. Cai, Hussein Alnajar, Bhavneet Bhinder, Kyung Park, Huihui Ye, Shaham Beg, Verena Sailer, Javed Siddiqui, Mirjam Blattner-Johnson, Jaclyn A. Croyle, Zohal Noorzad, Carla Calagua, Theresa Y. MacDonald, Ulrika Axcrona, Mari Bogaard, Karol Axcrona, Douglas S. Scherr, Martin G. Sanda, Bjarne Johannessen, Arul M. Chinnaiyan, Olivier Elemento, Rolf Skotheim, Mark A. Rubin, Christopher E. Barbieri, Juan Miguel Mosquera
Summary: Prostate cancer is a multifocal disease with distinct molecular subtypes. This study reveals the presence of inter- and intrafocal molecular heterogeneity in primary prostate cancer, with approximately 60% of multifocal specimens showing discordant molecular alterations between foci. Collision tumors, characterized by discrepant molecular status within a single focus, are identified in about 10% of the specimens. These findings highlight the complexity of molecular heterogeneity in prostate cancer and have important implications for future genomic studies.
Review
Veterinary Sciences
Toby Ryman-Tubb, Jennifer H. Lothion-Roy, Veronika M. Metzler, Anna E. Harris, Brian D. Robinson, Albert A. Rizvanov, Jennie N. Jeyapalan, Victoria H. James, Gary England, Catrin S. Rutland, Jenny L. Persson, Lukas Kenner, Mark A. Rubin, Nigel P. Mongan, Simone de Brot
Summary: Prostate cancer is relatively rare in dogs but is the most common non-cutaneous cancer in men. Canine prostate cancer has been proposed as a model for understanding prostate cancer in men due to the similarities in functional, anatomical, and physiological features. The necessity to better understand the mechanisms of prostate cancer initiation and progression to develop novel therapeutic approaches is urgent, particularly in the context of castrate-resistant prostate cancer in men.
VETERINARY MEDICINE AND SCIENCE
(2022)
Article
Urology & Nephrology
Silke Gillessen, Andrew Armstrong, Gert Attard, Tomasz M. Beer, Himisha Beltran, Anders Bjartell, Alberto Bossi, Alberto Briganti, Robert G. Bristow, Muhammad Bulbul, Orazio Caffo, Kim N. Chi, Caroline S. Clarke, Noel Clarke, Ian D. Davis, Johann S. de Bono, Ignacio Duran, Ros Eeles, Eleni Efstathiou, Jason Efstathiou, Onyeanunam Ngozi Ekeke, Christopher P. Evans, Stefano Fanti, Felix Y. Feng, Karim Fizazi, Mark Frydenberg, Dan George, Martin Gleave, Susan Halabi, Daniel Heinrich, Celesta Higano, Michael S. Hofman, Maha Hussain, Nick James, Robert Jones, Ravindran Kanesvaran, Raja B. Khauli, Laurence Klotz, Raya Leibowitz, Chris Logothetis, Fernando Maluf, Robin Millman, Alicia K. Morgans, Michael J. Morris, Nicolas Mottet, Hind Mrabti, Declan G. Murphy, Vedang Murthy, William K. Oh, Piet Ost, Joe M. O'Sullivan, Anwar R. Padhani, Chris Parker, Darren M. C. Poon, Colin C. Pritchard, Danny M. Rabah, Dana Rathkopf, Rob E. Reiter, Mark Rubin, Charles J. Ryan, Fred Saad, Juan P. Sade, Oliver Sartor, Howard Scher, Neal Shore, Iwona Skoneczna, Eric Small, Matthew Smith, Howard Soule, Daniel E. Spratt, Cora N. Sternberg, Hiroyoshi Suzuki, Christopher Sweeney, Matthew R. Sydes, Mary-Ellen Taplin, Derya Tilki, Bertrand Tombal, Levent Turkeri, Hiroji Uemura, Hirotsugu Uemura, Inge van Oort, Kosj Yamoah, Dingwei Ye, Almudena Zapatero, Aurelius Omlin
Summary: The voting results from the 2021 Advanced Prostate Cancer Consensus Conference provide guidance for clinicians and patients in the management of advanced prostate cancer where evidence is scarce. However, treatment decisions should be individualized based on patient characteristics and current clinical evidence.
Correction
Urology & Nephrology
Fabio Turco, Andrew Armstrong, Gerhardt Attard, Tomasz M. Beer, Himisha Beltran, Anders Bjartell, Alberto Bossi, Alberto Briganti, Rob G. Bristow, Muhammad Bulbul, Orazio Caffo, Kim N. Chi, Caroline Clarke, Noel Clarke, Ian D. Davis, Johann de Bono, Ignacio Duran, Ros Eeles, Eleni Efstathiou, Jason Efstathiou, Christopher P. Evans, Stefano Fanti, Felix Y. Feng, Karim Fizazi, Mark Frydenberg, Dan George, Martin Gleave, Susan Halabi, Daniel Heinrich, Celestia Higano, Michael S. Hofman, Maha Hussain, Nicholas James, Rob Jones, Ravindran Kanesvaran, Raja B. Khauli, Laurence Klotz, Raya Leibowitz, Christopher Logothetis, Fernando Maluf, Robin Millman, Alicia K. Morgans, Michael J. Morris, Nicolas Mottet, Hind Mrabti, Declan G. Murphy, Vedang Murthy, William K. Oh, Onyeanunam Ngozi Ekeke, Piet Ost, Joe M. O'Sullivan, Anwar R. Padhani, Christopher Parker, Darren M. C. Poon, Colin C. Pritchard, Danny M. Rabah, Dana Rathkopf, Robert E. Reiter, Mark Rubin, Charles J. Ryan, Fred Saad, Juan Pablo Sade, Oliver Sartor, Howard I. Scher, Neal Shore, Iwona Skoneczna, Eric Small, Matthew Smith, Howard Soule, Daniel Spratt, Cora N. Sternberg, Hiroyoshi Suzuki, Christopher Sweeney, Matthew Sydes, Mary-Ellen Taplin, Derya Tilki, Bertrand Tombal, Levent Turkeri, Hiroji Uemura, Hirotsugu Uemura, Inge van Oort, Kosj Yamoah, Dingwei Ye, Almudena Zapatero, Silke Gillessen, Aurelius Omlin
Article
Oncology
Joanna Cyrta, Davide Prandi, Arshi Arora, Daniel H. Hovelson, Andrea Sboner, Antonio Rodriguez, Tarcisio Fedrizzi, Himisha Beltran, Dan R. Robinson, Anuradha Gopalan, Lawrence True, Peter S. Nelson, Brian D. Robinson, Juan Miguel Mosquera, Scott A. Tomlins, Ronglai Shen, Francesca Demichelis, Mark A. Rubin
Summary: This study compares the pathological and molecular features of primary prostate cancer (PCa) and metastases, revealing their heterogeneity. The results highlight the importance of comprehensive immunohistochemistry-assisted pathology review and genomic analysis in determining the "index" area of primary PCa.
JOURNAL OF PATHOLOGY
(2022)
Review
Endocrinology & Metabolism
Kellie Cotter, Mark A. Rubin
Summary: In recent years, the landscape of somatic mutations in prostate cancer (PCa) has rapidly evolved with the improvement in genomic sequencing platforms. However, there are still limitations in the current knowledge, such as low coverage and incomplete coverage of the mutation spectrum. Some alterations require DNA and RNA analysis for accurate frequency detection, and most studies rely on bulk PCa tumor samples without considering tumor heterogeneity.
Article
Pathology
Andrew Janowczyk, Daniel Baumhoer, Stefan Dirnhofer, Rainer Grobholz, Anja Kipar, Laurence de Leval, Doron Merkler, Olivier Michielin, Holger Moch, Aurel Perren, Sven Rottenberg, Laura Rubbia-Brandt, Mark A. Rubin, Christine Sempoux, Markus Tolnay, Inti Zlobec, Viktor Hendrik Koelzer
Summary: Precision medicine is advancing into a new era of digital diagnostics, with the potential for integrated digital pathology and clinical data to drive biomedical research and business development. The creation of a Swiss Digital Pathology Infrastructure aims to establish a unified national network and facilitate international research collaboration, ultimately improving patient care through precision medicine.
Review
Oncology
Dilara Akhoundova, Mark A. Rubin
Summary: Next-generation DNA sequencing technology has greatly advanced clinical oncology by identifying therapeutic targets and molecular biomarkers, leading to personalized cancer treatment. Recent developments in tumor profiling now enable us to understand the molecular architecture and functional phenotype of tumors at the cellular and subcellular resolution.
Article
Oncology
Alison M. Ferguson, Mark A. Rubin
Summary: The emergence of small cell prostate cancer is associated with tumor cell plasticity and evasion of environmental pressures. In-depth understanding of tumor plasticity can be achieved through clinical cohorts and disease progression models. Studying the tumor microenvironment and earlier time points can provide a comprehensive understanding and potentially lead to better patient outcomes by intervening early to reverse plasticity and prevent transition to the aggressive small cell phenotype.
Article
Oncology
Carolyn C. Compton, Angelo M. De Mario, Jayanta Debnath, Keith D. Eaton, Kojo Elenitoba-Johnson, Michelangelo Fiorentino, Christopher A. French, Thomas J. Fuchs, Felice Giangaspero, Jiaoti Huang, A. John Lafrate, Michael M. Ittmann, Roy A. Jensen, Annette S. Kim, Massimo Loda, Robin G. Lorenz, Tamara L. Lotan, Anirban Maitre, Gerrit A. Meijer, Richard N. Mitchell, Anil Parwani, Francesco Pezzella, Eli Pikarsky, Jorge S. Reis-Filho, Andrea L. Richardson, Mark A. Rubin, Lawrence D. True
Summary: This article highlights the crucial role of pathologists in oncology practice and cancer research, focusing on their involvement in a patient's journey in cancer care.
CLINICAL CANCER RESEARCH
(2022)