Review
Biochemistry & Molecular Biology
Sushmaa Chandralekha Selvakumar, K. Auxzilia Preethi, Kehinde Ross, Deusdedit Tusubira, Mohd Wajid Ali Khan, Panagal Mani, Tentu Nageswara Rao, Durairaj Sekar
Summary: Personalized or precision medicine combines genetic information with phenotypic and environmental characteristics to tailor healthcare to individuals, enabled by cancer genome sequencing. The advantages of NGS, such as limited sample requirements and the development of biomarkers, have accelerated personalized medicine.
Review
Biochemistry & Molecular Biology
Ethan Hau Yin Lam, Fengqing Yu, Sabrina Zhu, Zongjie Wang
Summary: In the past decade, personalized medicine has made significant progress in addressing patient-specific disease complexities and developing individualized treatment strategies. The emergence of 3D bioprinting has provided novel opportunities for personalized medicine, although current bioprinted constructs have limitations in achieving anatomically realistic organs with mature biological functions. This review discusses the principles and realizations of bioprinting, focusing on techniques such as extrusion printing and digital light processing (DLP). It also explores the applications of bioprinted constructs in regenerative medicine and drug discovery. Despite the challenges, bioprinting shows promise as an empowering technology to overcome critical obstacles in personalized medicine.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Engineering, Biomedical
Bikramjit Basu, Jeyapriya Thimukonda Jegadeesan, Manish Baldia
Summary: Decompressive craniectomy (DC) is commonly used to treat various brain disorders, while cranioplasty surgery restores cranial symmetry and cosmetic outcomes. The manufacturing of patient-specific implants has shifted towards biomolecules and cellular-based methods. Despite advancements in 3D printing and image processing, the clinical procedure is time-consuming and costly. Therefore, automated implant fabrication using data-driven methods can accelerate the design and manufacturing of patient-specific cranial implants, providing predictable clinical outcomes.
ACTA BIOMATERIALIA
(2022)
Article
Biology
Maria Guarnaccia, Laura Guarnaccia, Valentina La Cognata, Stefania Elena Navone, Rolando Campanella, Antonella Ampollini, Marco Locatelli, Monica Miozzo, Giovanni Marfia, Sebastiano Cavallaro
Summary: The study developed a targeted next-generation sequencing approach for analyzing genetic variations and chromosomal aberrations in gliomas, which can provide accurate and specific assessment of tumor pathogenesis, prognosis, and treatment response. This has important implications for the diagnosis and treatment of gliomas.
Review
Medicine, General & Internal
Laura M. Harbin, Holly H. Gallion, Derek B. Allison, Jill M. Kolesar
Summary: Ovarian cancer is a deadly gynecologic malignancy, and precision medicine and molecular biomarker testing can help improve treatment outcomes.
Article
Immunology
Ravina Kullar, Emanuele Chisari, James Snyder, Christopher Cooper, Javad Parvizi, Jason Sniffen
Summary: This article discusses the gaps in traditional culture and introduces the utility of next-generation sequencing (NGS) in diagnosing and treating peri-prosthetic joint infections. It highlights the clinical benefits of using NGS compared to culture alone and emphasizes the potential of NGS in improving the yield of identifying infective organisms in challenging cases.
CLINICAL INFECTIOUS DISEASES
(2023)
Article
Oncology
Michael J. Fusco, Todd C. Knepper, Juliana Balliu, Alex Del Cueto, Jose M. Laborde, Sharjeel M. Hooda, Andrew S. Brohl, Marilyn M. Bui, J. Kevin Hicks
Summary: This study retrospectively evaluated the clinical utility of targeted next-generation sequencing among patients with cancers of unknown primary (CUP). The results showed that NGS testing provided treatment options for the majority of patients and assisted in identifying the likely primary tumor type in a clinically significant subset of patients.
Article
Oncology
Wei Zhang, Junping Shi, Yingying Wang, Hongyuan Zhou, Zewu Zhang, Zhiqiang Han, Guanghao Li, Bo Yang, Guangtai Cao, Yan Ke, Ti Zhang, Tianqiang Song, QiangLi
Summary: The study found that NGS-guided targeted therapy and immunotherapy may offer better prognosis for patients with advanced or relapsed biliary tract cancer compared to traditional chemotherapy. The type of gene mutation in patients can guide the selection of appropriate treatment drugs, and TMB is a useful biomarker for predicting the efficacy of immunotherapy.
CANCER IMMUNOLOGY IMMUNOTHERAPY
(2021)
Review
Oncology
Anisha Luthra, Brooke Mastrogiacomo, Shaleigh A. Smith, Debyani Chakravarty, Nikolaus Schultz, Francisco Sanchez-Vega
Summary: NGS technologies have been widely adopted in cancer research and clinical care in the past decade, enabling patient stratification, biomarker identification, heritable cancer risk assessment, and treatment monitoring. The development of novel algorithms, computational pipelines, and structured knowledge bases has been crucial for downstream data processing and interpretation. Collaborations across institutions have led to the creation of large pooled datasets that offer valuable insights into the genomics of rare cancers.
GENES CHROMOSOMES & CANCER
(2022)
Article
Gastroenterology & Hepatology
Davide Melisi, Alessandro Cavaliere, Stefano Gobbo, Giulia Fasoli, Valentina Allegrini, Francesca Simionato, Marina Gaule, Simona Casalino, Camilla Pesoni, Camilla Zecchetto, Valeria Merz, Andrea Mambrini, Emilio Barbi, Roberto Girelli, Alessandro Giardino, Isabella Frigerio, Roberto Scalamogna, Arianna Avitabile, Silvia Castellani, Michele Milella, Giovanni Butturini
Summary: NGS analysis is valuable in detecting genomic alterations in PDC patients, especially after standard treatments failure, offering potential actionable mutations and molecularly targeted therapeutic approaches.
Review
Microbiology
Tejinder Pal Singh, Basavaprabhu Haranahalli Natraj
Summary: The gut microbiome plays a crucial role in host health, with potential for manipulation to control individual health and design personalized medicine. Next-generation probiotics (NGPs) show promise as new therapeutic agents, but their unique characteristics and growth requirements present challenges for researchers and regulatory agencies.
CRITICAL REVIEWS IN MICROBIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Aleksander Salomon-Perzynski, Joanna Barankiewicz, Marcin Machnicki, Irena Misiewicz-Krzeminska, Michal Pawlak, Sylwia Radomska, Agnieszka Krzywdzinska, Aleksandra Bluszcz, Piotr Stawinski, Malgorzata Rydzanicz, Natalia Jakacka, Iwona Solarska, Katarzyna Borg, Zofia Spyra-Gorny, Tomasz Szpila, Bartosz Pula, Sebastian Grosicki, Tomasz Stoklosa, Rafal Ploski, Ewa Lech-Maranda, Jana Jakubikova, Krzysztof Jamroziak
Summary: Tracking genetic changes during multiple myeloma progression reveals different patterns of mutation evolution, with mutation loss pathway associated with better treatment response. Many druggable genes are mutated, even in heavily pre-treated patients. Redefining R-ISS at relapse is clinically valuable.
Article
Hematology
Come Bommier, Claire Mauduit, Juliette Fontaine, Estelle Bourbon, Pierre Sujobert, Sarah Huet, Lucile Baseggio, Sandrine Hayette, Camille Laurent, Emmanuel Bachy, Herve Ghesquieres, Catherine Thieblemont, Gilles Salles, Alexandra Traverse-Glehen
Summary: The study showed that TNGS can lead to a more accurate diagnosis in challenging lymphoma cases, thus improving clinical management in routine practice.
BRITISH JOURNAL OF HAEMATOLOGY
(2021)
Article
Biotechnology & Applied Microbiology
Songbai Zheng, Xiaodan Wang, Ying Fu, Beibei Li, Jianhua Xu, Haifang Wang, Zhen Huang, Hui Xu, Yurong Qiu, Yaozhou Shi, Kui Li
Summary: This study investigated genetic variations in Chinese NSCLC patients using next-generation sequencing, identifying common mutated genes and genes with copy number variation. GO and KEGG analyses revealed that these genes were mainly involved in tumor-related signaling pathways such as PI3K-Akt, FoxO, and Ras.
Article
Oncology
Rebecca C. Arend, Nidhi Goel, Brandon M. Roane, McKenzie E. Foxall, Jhalak Dholakia, Angelina Londono, Jaclyn A. Wall, Charles A. Leath, Warner K. Huh
Summary: The study aimed to investigate treatment disparities among uterine cancer patients, specifically looking at differences between Black and non-Black patients. It found that Black patients were more likely to present with aggressive histology and had disparities in targeted therapy and clinical trial participation. Additionally, Black patients showed significant differences in certain gene mutations compared to non-Black patients.
GYNECOLOGIC ONCOLOGY
(2021)
Article
Oncology
Edyta Maria Urbanska, Eric Santoni-Rugiu, Linea Cecilie Melchior, Jonathan Frederik Carlsen, Jens Benn Sorensen
CLINICAL LUNG CANCER
(2021)
Article
Pathology
Jefree J. Schulte, David B. Chapel, Richard Attanoos, Luka Brcic, Juliet Burn, Kelly J. Butnor, Nina Chang, Heather Chen, Sanja Dacic, Marc De Perrot, Junya Fukuoka, Francoise Galateau-Salle, Theresa Godschachner, Kenzo Hiroshima, Sonja Klebe, Thomas Krausz, Leslie Litzky, Alberto M. Marchevsky, Jeffrey Mueller, Kazuki Nabeshima, Andrew G. Nicholson, Prodipto Pal, Anja C. Roden, Sara Rorvig, Eric Santoni-Rugiu, Henry Tazelaar, Ming-Sound Tsao, Ann E. Walts, Birgit Weynand, Yoshiaki Zaizen, Yu Zhi Zhang, Aliya N. Husain
Summary: This study compared histologic subtype, nuclear grade, and necrosis in paired biopsy and resection specimens of pleural MM, showing moderate agreement in these pathologic parameters. The findings may be useful for guiding postbiopsy management and patient triage in MM cases.
AMERICAN JOURNAL OF CLINICAL PATHOLOGY
(2021)
Article
Oncology
Dorte Schou Noroxe, Aidan Flynn, Christina Westmose Yde, Olga ostrup, Finn Cilius Nielsen, Jane Skjoth-Rasmussen, Jannick Brennum, Petra Hamerlik, Joachim Weischenfeldt, Hans Skovgaard Poulsen, Ulrik Lassen
Summary: The study analyzed 35 patients with newly diagnosed GBM to investigate the accuracy of TMB assessment, finding that adjusting for tumor purity can improve reliability of TMB comparison within a certain tumor purity range. TMB remained stable before and after treatment, and mutation spectra showed consistent patterns in shared and relapse-private mutations. The study highlights the importance of accurate TMB determination for stratifying patients for experimental treatments like immune checkpoint therapy, despite the challenges posed by sample variability.
MOLECULAR ONCOLOGY
(2022)
Article
Oncology
Katrine T. Gad, Ulrik Lassen, Anne K. Duun-Henriksen, Susanne O. Dalton, Morten Mau-Sorensen, Pernille E. Bidstrup, Beverley L. Hoeg, Kristoffer S. Rohrberg, Iben Spanggard, Annika von Heymann, Christoffer Johansen
Summary: The study found that psychological distress is not as prevalent among patients referred to phase 1 cancer trials as in the general cancer population. While stress levels were lower, anxiety and depression symptoms were higher in these patients. Some enrolled patients had lower understanding of trial information, especially regarding the purpose, benefit, and additional risks.
Article
Oncology
Andrew Briggs, Noman Paracha, Katherine Rosettie, Alexander Upton, Carsten Bokemeyer, Ulrik Lassen, Sean D. Sullivan
Summary: This study compared long-term survival predictions of Larotrectinib using patient-level data from three clinical trials to observed survival rates, finding that while the long-term PFS predictions deviated from observed rates, the 48-month survival prediction for OS was consistent with the observed 2020 KM estimate.
Article
Engineering, Biomedical
Maria Rafaeva, Edward R. Horton, Adina R. D. Jensen, Chris D. Madsen, Raphael Reuten, Oliver Willacy, Christian B. Brochner, Thomas H. Jensen, Kamilla Westarp Zornhagen, Marina Crespo, Dina S. Gronseth, Sebastian R. Nielsen, Manja Idorn, Per Thor Straten, Kristoffer Rohrberg, Iben Spanggaard, Martin Hojgaard, Ulrik Lassen, Janine T. Erler, Alejandro E. Mayorca-Guiliani
Summary: Metastatic cancer spread is responsible for most cancer-related deaths. Through the use of a bioreactor and organ ECM scaffolds, it is possible to mimic cell behavior within complex native ECM, aiding in the study of cell signaling and disease modeling.
ADVANCED HEALTHCARE MATERIALS
(2022)
Article
Oncology
Ida Christine Jacobsen, Iben Spanggaard, Martin Hojgaard, Laila Belcaid, Camilla Qvortrup, Christina Westmose Yde, Ane Yde Schmidt, Finn Cilius Nielsen, Gro Linno Willemoe, Mikkel Seidelin Dam, Ulrik Lassen, Kristoffer Staal Rohrberg
Summary: Performing extensive genomic analysis in patients with known KRAS-mutated solid tumors may provide information about the genomic landscape of cancers and identify targets for immunotherapy or synthetic lethality drugs, but currently it appears to have limited overall clinical impact, as few patients received targeted therapy matched to their genomic profile.
Article
Cell Biology
Wojciech Senkowski, Laura Gall-Mas, Matias Marin Falco, Yilin Li, Kari Lavikka, Mette C. Kriegbaum, Jaana Oikkonen, Daria Bulanova, Elin J. Pietras, Karolin Vossgrone, Yan-Jun Chen, Erdogan Pekcan Erkan, Jun Dai, Anastasia Lundgren, Mia Kristine Gronning Hog, Ida Marie Larsen, Tarja Lamminen, Katja Kaipio, Jutta Huvila, Anni Virtanen, Lars Engelholm, Pernille Christiansen, Eric Santoni-Rugiu, Kaisa Huhtinen, Olli Carpen, Johanna Hynninen, Sampsa Hautaniemi, Anna Vaharautio, Krister Wennerberg
Summary: This article describes a method for culturing organoids from high-grade serous ovarian cancer (HGSC) with improved efficacy compared to previous reports (53% vs. 23%-38%). The organoids recapitulated genetic and phenotypic features of the original tumors. The organoid drug responses correlated with clinical treatment outcomes, but only in organoids maintained in human plasma-like medium. This resource facilitates the application of HGSC organoids in ovarian cancer research.
DEVELOPMENTAL CELL
(2023)
Letter
Oncology
Edyta Maria Urbanska, Jens Benn Sorensen, Eric Santoni-Rugiu
JOURNAL OF THORACIC ONCOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Vivek Subbiah, Robert J. Kreitman, Zev A. Wainberg, Anas Gazzah, Ulrik Lassen, Alexander Stein, Patrick Y. Wen, Sascha Dietrich, Maja J. A. de Jonge, Jean-Yves Blay, Antoine Italiano, Kan Yonemori, Daniel C. Cho, Filip Y. F. L. de Vos, Philippe Moreau, Elena Elez Fernandez, Jan H. M. Schellens, Christoph C. Zielinski, Suman Redhu, Aislyn Boran, Vanessa Q. Passos, Palanichamy Ilankumaran, Yung-Jue Bang
Summary: This study is a phase 2 basket trial evaluating the efficacy and safety of dabrafenib plus trametinib in patients with BRAFV600E-mutated advanced rare cancers. The overall response rates in different tumor types ranged from 56% to 89%. Secondary endpoints included duration of response, progression-free survival, overall survival, and safety.
Article
Oncology
Karin Holmskov Hansen, Jakob Sidenius Johansen, Edyta Maria Urbanska, Peter Meldgaard, Peter Hjorth-Hansen, Charlotte Kristiansen, Miroslaw Stelmach, Eric Santoni-Rugiu, Maiken Parm Ulhoi, Anders Bondo Dydensborg, Christina Dunweber, Jon Lykkegaard Andersen
Summary: This study investigates the treatment and clinical outcomes of ALK+ NSCLC patients in Denmark and confirms the superior disease control provided by second generation ALK-TKIs compared to the first generation ALK-TKI crizotinib.
Article
Biochemistry & Molecular Biology
Edyta M. Urbanska, Morten Grauslund, Peter R. Koffeldt, Sarah L. B. Truelsen, Johan O. Loefgren, Junia C. Costa, Linea C. Melchior, Jens B. Sorensen, Eric Santoni-Rugiu
Summary: Amplification of the MET gene is a mechanism of acquired resistance to EGFR-TKIs in patients with EGFR-mutated NSCLC. It can also occur de novo and cause intrinsic resistance. There are no standard therapies for these patients, but combinations of EGFR-TKIs with Crizotinib may be effective. However, the co-occurrence of other genomic and phenotypic alterations can impact the response to this combination. Different diagnostic methods should be used together to accurately detect MET amplification. The addition of Crizotinib to EGFR-TKI treatment has shown reasonable efficacy in patients with MET amplification, with a progression-free survival of 3-19 months.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cell Biology
Miriam I. Rosenberg, Erez Greenstein, Martin Buchkovich, Ayelet Peres, Eric Santoni-Rugiu, Lei Yang, Martin Mikl, Zalman Vaksman, David L. Gibbs, Dan Reshef, Amy Salovin, Meredith S. Irwin, Arlene Naranjo, Igor Ulitsky, Pedro A. de Alarcon, Katherine K. Matthay, Victor Weigman, Gur Yaari, Jessica A. Panzer, Nir Friedman, John M. Maris
Summary: Neuroblastoma is a lethal childhood solid tumor. Opsoclonus myoclonus ataxia syndrome (OMAS) is found in 2% of neuroblastoma patients and is characterized by cerebellar and brainstem-directed autoimmunity. In this study, OMAS-associated tumors showed greater B and T cell infiltration, poly clonal expansions, and enrichment of tertiary lymphoid structures (TLSs). The major histocompatibility complex (MHC) class II allele HLA-DOB*01:01 was significantly enriched in OMAS patients. OMAS severity scores were associated with the expression of candidate autoimmune genes. A proposed model suggests that polyclonal auto-reactive B lymphocytes act as antigen-presenting cells and drive TLS formation, supporting both anti-tumor immunity and OMAS neuropathology.
Meeting Abstract
Oncology
Wojciech Senkowski, Laura Gall Mas, Matias M. Falco, Yilin Li, Kari Lavikka, Mette C. Kriegbaum, Jaana Oikkonen, Daria Bulanova, Elm J. Pietras, Karolin Vossgrone, Erdogan P. Erkan, Terese K. Hoj, Mia K. Hog, Tarja Lamminen, Katja Kaipio, Anni Virtanen, Lars H. Engelholm, Pernille Christiansen, Eric Santoni-Rugiu, Kaisa Huhtinen, Olli Carpen, Johanna Hynninen, Sampsa Hautaniemi, Anna Vaharautio, Krister Wennerberg
Article
Oncology
Alexander Drilon, Daniel S. W. Tan, Ulrik N. Lassen, Serge Leyvraz, Yongmei Liu, Jyoti D. Patel, Lee Rosen, Benjamin Solomon, Ricarda Norenberg, Laura Dima, Nicoletta Brega, Lin Shen, Victor Moreno, Shivaani Kummar, Jessica J. Lin
Summary: The study assessed the efficacy and safety of larotrectinib in patients with TRK fusion-positive lung cancers. The results showed that larotrectinib had high activity, durable responses, extended survival benefit, and a favorable safety profile in advanced lung cancer patients with NTRK gene fusions, including those with CNS metastases.
JCO PRECISION ONCOLOGY
(2022)