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)
Article
Oncology
Miriam Gutierrez-Jimeno, Piedad Alba-Pavon, Itziar Astigarraga, Teresa Imizcoz, Elena Panizo-Morgado, Susana Garcia-Obregon, Ana Catalan-Lamban, Mikel San-Julian, Jose M. Lamo-Espinosa, Aizpea Echebarria-Barona, Marta Zalacain, Marta M. Alonso, Ana Patino-Garcia
Summary: The clinical management of sarcomas is complex due to its rarity and heterogeneity, especially in pediatric patients. Genomic characterization of these tumors helps in identifying prognostic biomarkers and expanding therapeutic options. Genomic analysis contributes to both diagnosis and treatment in children and young adults with sarcomas, enabling the identification of high-risk patients and potential targets for therapy.
Article
Genetics & Heredity
Suzanne M. Onstwedder, Marleen E. Jansen, Teresa Leonardo Alves, Martina C. Cornel, Tessel Rigter
Summary: This study explores how public health benefit is pursued in a selection of national genomics initiatives. The findings show that public health benefit is pursued and operationalized in all phases of the public health policy cycle, but measuring this benefit remains challenging.
FRONTIERS IN GENETICS
(2022)
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
Oncology
Thai Hoa Tran, Stephen P. Hunger
Summary: Acute lymphoblastic leukemia (ALL) is the most common childhood cancer and has shown significant improvement in survival rates through risk-adapted chemotherapy, prevention measures, and molecular analysis. However, challenges remain for older patients and relapsed/refractory cases.
SEMINARS IN CANCER BIOLOGY
(2022)
Review
Medicine, General & Internal
P. W. Franks, E. Melen, M. Friedman, J. Sundstrom, I Kockum, L. Klareskog, C. Almqvist, S. E. Bergen, K. Czene, S. Hagg, P. Hall, K. Johnell, A. Malarstig, A. Catrina, H. Hagstrom, M. Benson, J. Gustav Smith, M. F. Gomez, M. Orho-Melander, B. Jacobsson, J. Halfvarson, D. Repsilber, M. Oresic, C. Jern, B. Melin, C. Ohlsson, T. Fall, L. Ronnblom, M. Wadelius, G. Nordmark, A. Johansson, R. Rosenquist, P. F. Sullivan
Summary: Genomic approaches to diagnosis, prognostication, prevention and treatment may optimize medical practice. Research is underway to determine the polygenic basis of many complex diseases, which will likely necessitate models for prediction and diagnosis that incorporate genetic and non-genetic data.
JOURNAL OF INTERNAL MEDICINE
(2021)
Review
Medicine, General & Internal
Richard Rosenquist, Elsa Bernard, Tom Erkers, David W. Scott, Raphael Itzykson, Philippe Rousselot, Jean Soulier, Martin Hutchings, Paivi Ostling, Lucia Cavelier, Thoas Fioretos, Karin E. Smedby
Summary: Genetic testing has been used in clinical routine diagnostics of hematological malignancies for years to improve disease classification, prognostication, patient management, and survival. Recent classifications of hematological malignancies define disease subtypes based on key recurrent genetic alterations detected by conventional methods. Through advanced sequencing techniques, broad genomic tests can now be applied to identify clinically important markers. Precision diagnostics have been implemented in myeloid and lymphoid malignancies to guide treatment selection and improve survival. The potential of monitoring measurable residual disease and functional precision medicine is also discussed.
JOURNAL OF INTERNAL MEDICINE
(2023)
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)
Article
Pharmacology & Pharmacy
Yaqing Liu, Zipeng Lin, Qingwang Chen, Qiaochu Chen, Leqing Sang, Yunjin Wang, Leming Shi, Li Guo, Ying Yu
Summary: An automated Pharmacogenomics Annotation tool (PAnno) was developed to provide prescribing recommendations and phenotypes based on NGS data. It introduced a ranking model for inferring diplotypes and validated its performance using consensus data. PAnno also proposed an annotation method to classify drugs and predict specific drug phenotypes based on the Clinical Pharmacogenetics Implementation Consortium (CPIC) recommendations and the Pharmacogenomics Knowledgebase (PharmGKB). It provides an end-to-end solution for clinical pharmacogenomics decision support.
FRONTIERS IN PHARMACOLOGY
(2023)
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)
Article
Health Care Sciences & Services
Karriem S. Watson, Elizabeth G. Cohn, Alecia Fair, Usha Menon, Laura A. Szalacha, Selena M. Carpenter, Consuelo H. Wilkins
Summary: Genomic/precision medicine offers an opportunity to improve health and address health disparities, but the lack of diversity in studies and historical factors may lead to inequities. To advance genomic/precision medicine research, existing partnerships should be leveraged, participants should be engaged beyond recruitment, and diverse perspectives should be embraced.
HEALTH EXPECTATIONS
(2022)
Review
Health Care Sciences & Services
Danijel Galun, Dragana Mijac, Aleksandar Filipovic, Aleksandar Bogdanovic, Marko Zivanovic, Dragan Masulovic
Summary: Hepatocellular carcinoma (HCC) is a major malignant disease worldwide. Despite advancements in surveillance, diagnosis, and treatment, the incidence and mortality rates remain high. Liver cirrhosis is a common risk factor for HCC, and the risks from both the tumor and cirrhosis should be considered. Precision medicine challenges the traditional approach by tailoring treatment based on individual molecular targets. Next-generation sequencing and genetic markers offer potential for better understanding HCC heterogeneity and identifying vulnerabilities. A shift towards a therapeutic-oriented approach is needed for personalized HCC treatment. Multidisciplinary approval is crucial for decision-making in precision medicine.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Review
Oncology
Aurora S. Blucher, Gordon B. Mills, Yiu Huen Tsang
Summary: Precision treatment for breast cancers has seen significant advancements in recent decades, however challenges such as tumor heterogeneity, drug resistance, and recurrence and metastases still persist. To address these challenges, a comprehensive understanding of breast subtypes and treatment biomarkers is necessary, along with the integration of knowledge across different data types in evidence-based clinical trials. Recent cutting-edge clinical trials for precision treatment of breast cancer, including chemotherapies, targeted therapies, immunotherapies, and combination therapies, show promising directions for future development in precision breast cancer research.
CLINICAL & EXPERIMENTAL METASTASIS
(2022)
Article
Medicine, General & Internal
Scott P. McGrath, Arthur E. Peabody, Derek Walton, Nephi Walton
Summary: Precision medicine incorporates genetic data for a comprehensive health picture, but the volume of data can lead to confusion. Physicians may face challenges with patient genomic data, such as unclear genetic results, diseases without known treatments, and questions about their duty to patients in handling genomic information.
FRONTIERS IN MEDICINE
(2021)
Article
Oncology
Mashaal Dhir, Heather L. Jones, Yongli Shuai, Amber K. Clifford, Samantha Perkins, Jennifer Steve, Melissa E. Hogg, M. Haroon A. Choudry, James F. Pingpank, Matthew P. Holtzman, Herbert J. Zeh, Nathan Bahary, David L. Bartlett, Amer H. Zureikat
ANNALS OF SURGICAL ONCOLOGY
(2017)
Article
Oncology
Mashaal Dhir, Lekshmi Ramalingam, Yongli Shuai, Sam Pakrafter, Heather L. Jones, Melissa E. Hogg, Amer H. Zureikat, Matthew P. Holtzman, Steven A. Ahrendt, Nathan Bahary, James F. Pingpank, Herbert J. Zeh, David L. Bartlett, Haroon A. Choudry
ANNALS OF SURGICAL ONCOLOGY
(2017)
Article
Oncology
Mashaal Dhir, Ruchi Shrestha, Jennifer L. Steel, J. Wallis Marsh, Allan Tsung, Mitchel E. Tublin, Nikhil B. Amesur, Philip D. Orons, Ernesto Santos, David A. Geller
ANNALS OF SURGICAL ONCOLOGY
(2017)
Article
Pathology
Taher Reza Kermanshahi, Deepa Magge, Haroon Choudry, Leksmi Ramalingam, Benjamin Zhu, James Pingpank, Steven Ahrendt, Matthew Holtzman, Herbert Zeh, David Bartlett, Amer Zureikat, Reetesh K. Pai
INTERNATIONAL JOURNAL OF SURGICAL PATHOLOGY
(2017)
Letter
Surgery
Mashaal Dhir, Chandrakanth Are
Review
Surgery
Natesh Yepuri, Nathan Bahary, Ajay Jain, Mashaal Dhir
JOURNAL OF SURGICAL RESEARCH
(2019)
Editorial Material
Oncology
Mashaal Dhir
ANNALS OF SURGICAL ONCOLOGY
(2020)
Editorial Material
Oncology
Mashaal Dhir, Chandrakanth Are
ANNALS OF SURGICAL ONCOLOGY
(2021)
Article
Oncology
Mashaal Dhir, Kaeli K. Samson, Natesh Yepuri, Ujwal R. Yanala, Lynette M. Smith, Chandrakanth Are
Summary: The study developed a preoperative nomogram to predict the risk of posthepatectomy liver failure, which demonstrated good predictive performance in a validation cohort. This nomogram provides valuable patient-specific probabilities for PHLF and can assist in preoperative patient counseling and selection.
JOURNAL OF SURGICAL ONCOLOGY
(2021)
Article
Gastroenterology & Hepatology
Asama Khan, Harlan R. Sayles, Mashaal Dhir
Summary: Through systematic review and meta-analysis, it was found that liver resection after Y90 treatment may be safe in very well selected patients. Delaying the resection after Y90 treatment may further decrease mortality.
Review
Surgery
Amanda Ghanie, Margaret K. Formica, Mashaal Dhir
Summary: This meta-analysis summarizes the 30-day and 90-day mortality rates after liver resection in elderly patients. Liver resection in the selected elderly population for surgery appears to be relatively safe, and advanced age alone may not be a sufficient exclusion criterion for surgery.
Editorial Material
Oncology
Mashaal Dhir, Thomas J. VanderMeer
ANNALS OF SURGICAL ONCOLOGY
(2022)
Article
Oncology
Jeffrey Douaiher, Tanvir Hussain, Mashaal Dhir, Lynette Smith, Chandrakanth Are
INDIAN JOURNAL OF SURGICAL ONCOLOGY
(2017)