Review
Genetics & Heredity
Maria Tsakiroglou, Anthony Evans, Munir Pirmohamed
Summary: Diagnostics require precision and predictive ability in order to be clinically useful. Integration of multi-omic with clinical data is crucial for understanding disease pathogenesis and diagnosis. However, interpreting large amounts of information at the individual level requires sophisticated computational tools. RNA, the most dynamic component in -omics technologies, carries regulatory information that is least utilized in clinical diagnostics. Gene expression-based tests can capture genetic and non-genetic heterogeneity and have been implemented in certain diseases. Transcriptomics has potential for patient stratification in clinical environments and clinical trials. In this review, the current clinical applications, challenges, and approaches for implementing transcriptomics in cancer and infection fields are discussed.
FRONTIERS IN GENETICS
(2023)
Article
Ophthalmology
James T. Rosenbaum, Christina A. Harrington, Robert P. Searles, Suzanne S. Fei, Amr Zaki, Sruthi Arepalli, Michael A. Paley, Lynn M. Hassman, Albert T. Vitale, Christopher D. Conrady, Puthyda Keath, Claire Mitchell, Lindsey Watson, Stephen R. Planck, Tammy M. Martin, Dongseok Choi
Summary: This study aimed to categorize idiopathic uveitis into subtypes based on gene expression from blood. Gene expression profiling achieved an overall accuracy of 85% in differentiating uveitis associated with diagnosable systemic diseases. Results suggest that peripheral blood gene expression profiling could be a valuable tool in aiding differential diagnosis of uveitis causes.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2021)
Article
Reproductive Biology
Lili Ge, Yu Sun, Yaqian Shi, Guangquan Liu, Fang Teng, Zhe Geng, Xiyi Chen, Hanzi Xu, Juan Xu, Xuemei Jia
Summary: In this study, hsa_circ_0003972 and hsa_circ_0007288 were identified as potential circulating biomarkers for ovarian cancer diagnosis. The combination of circCOMBO and carbohydrate antigen 125 (CA125) showed the highest diagnostic value. Furthermore, high expression of hsa_circ_0007288 was associated with lower lymph node metastasis potential.
JOURNAL OF OVARIAN RESEARCH
(2022)
Article
Oncology
Moussa Ndiaye, Gora Diop, Celine Derbois, Jean-Louis Spadoni, Josselin Noirel, Raissa Medina-Santos, Cedric Coulonges, Magali Torres, Alioune Dieye, Mbacke Sembene, Jean-Francois Deleuze, Alain Toledano, Ahmadou Dem, Jean-Francois Zagury, Sigrid Le Clerc
Summary: This study performed a transcriptomic analysis of PBMCs from Senegalese women with CC and identified differential gene expression patterns. The IL-1 pathway and downregulation of the T-cell receptor alpha gene were found to be involved in CC. These findings have potential implications for the development of clinical biomarkers for CC prevention and should be validated in other populations.
Article
Immunology
Haofan Yin, Zhijian Huang, Shiqiong Niu, Liang Ming, Hongbo Jiang, Liang Gu, Weibin Huang, Jinye Xie, Yulong He, Changhua Zhang
Summary: m(5)C methylation modification in peripheral blood immune cells shows potential as a biomarker for non-invasive diagnosis of CRC.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Peripheral Vascular Disease
Jacob. K. K. Kresovich, Zongli Xu, Katie. M. M. O'Brien, Christine. G. G. Parks, Clarice. R. R. Weinberg, Dale. P. P. Sandler, Jack. A. A. Taylor
Summary: This study found that shifts in lymphocyte subsets occur before the development of hypertension, followed by changes to neutrophils and additional lymphocytes.
Review
Biochemical Research Methods
Abhishek Vijayan, Shadma Fatima, Arcot Sowmya, Fatemeh Vafaee
Summary: Liquid biopsy has shown promise for cancer diagnosis due to its minimally invasive nature and potential for biomarker discovery. However, the challenges of low concentration of relevant blood-based biosources and sample heterogeneity have hindered biomarker discovery. In this study, 12 feature extraction methods were benchmarked using transcriptomic profiles, and a transformation method called partial least square discriminant analysis showed consistently superior classification performance.
BRIEFINGS IN BIOINFORMATICS
(2022)
Review
Medicine, General & Internal
Yinan Xiao, Meiyu Bi, Hongyan Guo, Mo Li
Summary: This review summarizes the recent advances and perspectives in the use of multi-omics technologies in ovarian cancer research, highlighting their potential applications in identifying novel biomarkers and improving clinical assessments.
Article
Oncology
Tian Tian, JinMing Fu, DaPeng Li, YuPeng Liu, HongRu Sun, Xuan Wang, XianYu Zhang, Ding Zhang, Ting Zheng, Yashuang Zhao, Da Pang
Summary: Abnormal DNA methylation of immune-related genes in peripheral blood leukocytes is associated with breast cancer risk. Five potential biomarkers were identified through a case-control study and analysis of different cell subtypes. These findings could be used to predict breast cancer risk.
FRONTIERS IN ONCOLOGY
(2022)
Review
Oncology
Eva Hulstaert, Annelien Morlion, Keren Levanon, Jo Vandesompele, Pieter Mestdagh
Summary: This systematic review presents 75 RNA biomarkers detectable in human biofluids for early diagnosis of ovarian cancer, with the majority identified using RT-qPCR or microarrays in blood-based fluids. Some studies utilized RNA-sequencing and looked into alternative fluids like urine and ascites. Promising biomarkers include miR-21, the miR-200 family, miR-205, miR-10a, and miR-346, while validation and further research are needed before clinical implementation. Challenges in biomarker validation and future perspectives are discussed to accelerate progress in this field.
GYNECOLOGIC ONCOLOGY
(2021)
Article
Chemistry, Analytical
Yu Wu, Chunhua Wang, Chao Wang, Pan Wang, Xiaohan Chang, Lin Han, Yu Zhang
Summary: This article presents a nanographene oxide particle-functionalized microfluidic fluorescence biosensor for the simultaneous detection of four biomarkers in ovarian tumors/cancers. The biosensor exhibits good selectivity and a large detection range, showing potential as a tool and strategy for early screening, diagnosis, and treatment of ovarian tumors/cancers.
Article
Reproductive Biology
Zehua Zhu, Zhaojun Chen, Mingxing Wang, Min Zhang, Yiwen Chen, Xiao Yang, Changjun Zhou, Yuhua Liu, Liquan Hong, Lahong Zhang
Summary: In this study, liquid biopsy technology was used to detect the expression levels of miR-205, CA125, HE4, and TCF21 genes in plasma exosomes of OC patients. The results showed that the expression level of miR-205 in plasma exosomes was significantly higher in OC patients compared to the benign and control groups, and it was elevated during advanced stages of OC and lymph node metastasis. This suggests that miR-205 in plasma exosomes is a valuable tumor biomarker for improving OC diagnosis.
JOURNAL OF OVARIAN RESEARCH
(2022)
Review
Oncology
Simone Karlsson Terp, Malene Pontoppidan Stoico, Karen Dybkaer, Inge Sokilde Pedersen
Summary: Liquid biopsy using circulating tumor DNA (ctDNA) shows promise as a minimally invasive approach for early diagnosis of ovarian cancer. DNA methylation biomarkers detected in ctDNA have the potential to distinguish ovarian cancer patients from those with benign conditions or healthy individuals.
CLINICAL EPIGENETICS
(2023)
Article
Oncology
A. Hasenburg, D. Eichkorn, F. Vosshagen, E. Obermayr, A. Geroldinger, R. Zeillinger, M. Bossart
Summary: The study confirmed the accuracy of plasma CA125 as a tumor marker in ovarian cancer. By developing a formula combining CA125, HE4, OPN, leptin, and prolactin, successful prediction of malignant ovarian tumors was achieved. This formula showed high sensitivity and specificity in diagnosing malignant ovarian tumors.
Article
Oncology
Lijuan Yang, Haohao Wu, Yan Zhu, Xiaoping Chen, Youguo Chen
Summary: Low levels of exosomal CAV1 in plasma are associated with FIGO stages I/II, low grade, lymph node metastasis, and prognosis in ovarian cancer patients. Plasma exosomal CAV1 may serve as a potential biomarker for predicting the prognosis of ovarian cancer patients.
Article
Oncology
Sofya Marchenko, Iris Piwonski, Inga Hoffmann, Bruno Valentin Sinn, Catarina Alisa Kunze, Nanna Monje, Jonathan Pohl, Hagen Kulbe, Wolfgang Daniel Schmitt, Sylvia Darb-Esfahani, Elena Ioana Braicu, Ann-Christin von Bruenneck, Jalid Sehouli, Carsten Denkert, David Horst, Korinna Joehrens, Eliane Tabea Taube
Summary: The study found that higher proportions of regulatory T cells (Tregs) and lower ratios of T helper 17 cells (Th17 cells) were associated with better overall survival in high-grade serous tubo-ovarian carcinoma. This research is important for understanding the impact of the tumor microenvironment on tumor development.
JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY
(2023)
Article
Oncology
Jacek Glajzer, Dan Cacsire Castillo-Tong, Rolf Richter, Ignace Vergote, Hagen Kulbe, Adriaan Vanderstichele, Ilary Ruscito, Fabian Trillsch, Alexander Mustea, Caroline Kreuzinger, Charlie Gourley, Hani Gabra, Eliane T. Taube, Oliver Dorigo, David Horst, Carlotta Keunecke, Joanna Baum, Timothy Angelotti, Jalid Sehouli, Elena Ioana Braicu
Summary: This study evaluates the impact of BRCA gene status on tumor dissemination, surgical outcome, and survival in ovarian cancer patients. BRCA mutation was associated with younger age, more extensive tumor involvement, higher debulking rates, and prolonged overall survival. The study suggests considering BRCA mutation status in patient selection for cytoreductive surgery.
ANNALS OF SURGICAL ONCOLOGY
(2023)
Article
Medical Laboratory Technology
Eva Obermayr, Nina Koppensteiner, Nicole Heinzl, Eva Schuster, Barbara Holzer, Hannah Fabikan, Christoph Weinlinger, Oliver Illini, Maximilian J. Hochmair, Robert Zeillinger
Summary: This study assessed the stability of CTC-related transcripts during storage and found that some genes were unaffected or upregulated upon storage, still associated with poor prognosis, while others were no longer associated with overall survival. These findings highlight the surprising stability of CTC-related transcripts.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
(2023)
Article
Environmental Sciences
Christoph Janka, Tanja Stamm, Georg Heinze, Thomas E. E. Dorner
Summary: Persistent stress and inadequate coping strategies have adverse effects on physical and mental health. Teaching adults the skills to effectively manage stress could contribute to the prevention of stress-related diseases.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2023)
Review
Oncology
Lukas Chinczewski, Felix Wilhelm Feldhaus, Wolfgang Schmitt, Ioana Braicu, Eva Roser, Jalid Sehouli
Summary: This is a case report on a patient with Lynch syndrome-associated ovarian cancer (OC) who achieved a complete response to immunotherapy with pembrolizumab. The findings suggest that immune checkpoint inhibition is an effective therapy for Lynch syndrome-associated OC that is nonresponsive to standard treatment.
ANTICANCER RESEARCH
(2023)
Review
Pharmacology & Pharmacy
Ignace Vergote, Isabelle Ray-Coquard, Domenica Lorusso, Ana Oaknin, David Cibula, Toon Van Gorp
Summary: Recurrent or primary advanced metastatic cervical cancer (R/M CC) has a poor prognosis, and there is a need for new and improved therapies. The standard of care for R/M CC now includes the immune checkpoint inhibitor pembrolizumab in combination with platinum-based chemotherapy, paclitaxel, and bevacizumab. Additionally, new options for second-line treatment have emerged in recent years.
EXPERT OPINION ON INVESTIGATIONAL DRUGS
(2023)
Article
Oncology
Eva Welsch, Eva Schuster, Michael Krainer, Maximilian Marhold, Rupert Bartsch, Michael B. Fischer, Michael Hermann, Gabriele Hastermann, Heidemarie Uher, Gerhard Sliutz, Birgit Anker, Robert Zeillinger, Eva Obermayr
Summary: Liquid biopsy is a promising tool for monitoring cancer therapy, but further research is needed to improve sensitivity, specificity, standardization, and cost-effectiveness. In this study, two panels of transcripts related to circulating tumor cells (CTCs) were evaluated in breast cancer patients. The positivity rates of these panels were higher in metastatic patients compared to early-stage patients. Certain individual markers within these panels correlated with shorter overall survival in the metastatic patients. The findings highlight the additional value of non-epithelial phenotype markers in Panel 2.
Article
Oncology
Liselore Loverix, Ignace Vergote, Pieter Busschaert, Adriaan Vanderstichele, Tom Venken, Bram Boeckx, Philipp Harter, Hilde Brems, Els Van Nieuwenhuysen, Sandro Pignata, Thais Baert, Antonio Gonzalez-Martin, Sileny Han, Christian Marth, Patrick Neven, Nicoletta Colombo, Patrick Berteloot, Johanna Maeenpaeae, Siel Olbrecht, Tina Laga, Erwin Sablon, Isabelle Ray-Coquard, Eric Pujade-Lauraine, Diether Lambrechts, Toon Van Gorp
Summary: The Leuven HRD test and Myriad HRD test have similar predictive value for PFS and OS in HRD+ patients, and there is a robust correlation between the two tests.
EUROPEAN JOURNAL OF CANCER
(2023)
Article
Oncology
I. Vergote, E. Van Nieuwenhuysen, A. Casado, A. Laenen, D. Lorusso, E. I. Braicu, E. Guerra-Alia, P. Zola, P. Wimberger, P. R. Debruyne, E. Falco, A. Ferrero, M. Z. Muallem, J. Kerger, E. Garcia-Martinez, S. Pignata, J. Sehouli, T. Van Gorp, C. Gennigens, M. J. Rubio
Summary: This study aimed to establish the role of nintedanib in first-line recurrent/metastatic cervical cancer. The results showed that nintedanib improved the progression-free survival compared to the carboplatin-paclitaxel group. The nintedanib group had a longer median overall survival and a higher RECIST response rate.
GYNECOLOGIC ONCOLOGY
(2023)
Article
Oncology
Sander Dumont, Vincent Vandecaveye, Raphaela Carmen Dresen, Els Van Nieuwenhuysen, Thais Baert, Frederic Amant, Valerie Broeckhoven, Toon Van Gorp
Summary: This study aimed to evaluate the diagnostic value of whole-body diffusion-weighted magnetic resonance imaging (WB-DWI/MRI) in predicting resectable disease during secondary cytoreductive surgery for relapsed epithelial ovarian cancer. The study found that WB-DWI/MRI accurately predicted resectable disease and was associated with improved progression-free and overall survival of the patients.
INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER
(2023)
Article
Oncology
Nicoletta Colombo, Toon Van Gorp, Ursula A. Matulonis, Ana Oaknin, Rachel N. Grisham, Gini F. Fleming, Alexander B. Olawaiye, Dorothy D. Nguyen, Andrew E. Greenstein, Joseph M. Custodio, Hristina I. Pashova, Iulia C. Tudor, Domenica Lorusso
Summary: This study aimed to investigate the therapeutic effect of selective glucocorticoid receptor modulation with relacorilant in platinum-resistant/refractory ovarian cancer. The results showed that intermittent relacorilant plus nab-paclitaxel significantly improved progression-free survival, duration of response, and overall survival.
JOURNAL OF CLINICAL ONCOLOGY
(2023)
Article
Transplantation
Angelika Geroldinger, Susanne Strohmaier, Michael Kammer, Christine Schilhart-Wallisch, Georg Heinze, Rainer Oberbauer, Maria C. Haller
Summary: It is unclear whether the anticipated survival benefit from kidney transplantation is different for women and men.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Article
Mathematics, Interdisciplinary Applications
Aliaksandr Hubin, Georg Heinze, Riccardo De Bin
Summary: This paper proposes a framework for fitting multivariable fractional polynomial models as special cases of Bayesian generalized nonlinear models. By applying an adapted version of the genetically modified mode jumping Markov chain Monte Carlo algorithm, the Bayesian version of fractional polynomials can be used in any supervised learning task.
FRACTAL AND FRACTIONAL
(2023)
Article
Obstetrics & Gynecology
M. Bossart, H. Plett, B. Kraemer, E. Braicu, B. Czogalla, M. Klar, S. Singer, D. Mayr, A. Staebler, A. du Bois, S. Kommoss, T. Link, A. Burges, F. Heitz, M. Grube, F. Trillsch, P. Harter, P. Wimberger, P. Buderath, A. Hasenburg
Summary: This study aimed to evaluate the anxiety and depression levels of survivors of malignant ovarian germ cell tumors (MOGCT) and sex cord stromal tumors (SCST), and to identify possible factors that could be modified. Multivariate linear regression analysis was used to investigate the effects of factors such as type of surgery, chemotherapy, time since diagnosis, recurrence, second tumor, and pain on anxiety and depression. The findings showed that fertility-conserving surgery was associated with lower levels of mental distress, while pain was associated with higher levels of distress.
ARCHIVES OF GYNECOLOGY AND OBSTETRICS
(2023)
Meeting Abstract
Oncology
Kathleen N. Moore, Antoine Angelergues, Gottfried E. Konecny, Susana N. Banerjee, Sandro Pignata, Nicoletta Colombo, John William Moroney, Casey Cosgrove, Jung-Yun Lee, Andrzej Roszak, Shani Breuer, Jacqueline Maria Tromp, Diana Bello-Roufai, Lucy Gilbert, Rowan Miller, Tashanna K. N. Myers, Yuemei Wang, Anna Berkenblit, Domenica Lorusso, Toon Van Gorp
JOURNAL OF CLINICAL ONCOLOGY
(2023)