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3. Feasibility, tolerability, and first experience of intracystic treatment with peginterferon alfa-2a in patients with cystic craniopharyngioma

Author

Cora Hedrich, Priya Patel, Lukas Haider, Tracey Taylor, Elaine Lau, Roxanne Hook, Christian Dorfer, Karl Roessler, Natalia Stepien, Maria Aliotti Lippolis, Hannah Schned, Clara Koeller, Lisa Mayr, Amedeo A. Azizi, Andreas Peyrl, Bienvenido Ros Lopez, Alvaro Lassaletta, Julie Bennett, Johannes Gojo, and Ute Bartels

Subjects
craniopharyngioma, intracystic treatment, peginterferon alfa-2a, pediatric neurooncology, pediatric neurosurgery, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

BackgroundChildren with craniopharyngiomas (CPs) typically suffer from a life-long chronic disease. The younger the child, the more vulnerable the maturing brain is to invasive therapies such as surgery or radiotherapy. Therefore, treatment modalities facilitating avoidance or delay of invasive therapies are beneficial for these patients. In the last decade, intracystic injection of interferon alfa-2a or alfa-2b evolved as a treatment of choice based on efficacy and minor toxicity. However, the drug is no longer available internationally. After an extensive pharmacological review, peginterferon alfa-2a was identified as the agent with closest similarity.MethodsA retrospective case series is described, including five patients treated with intracystic peginterferon alfa-2a for cystic CP according to an innovative care protocol. After initial CP cyst aspiration, peginterferon alfa-2a was injected once per week via an Ommaya reservoir for 6 weeks followed by response assessment with MRI.ResultsPatients’ age ranged from 4 to 54 years (four patients

Published
2024
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5. Analgesic and anti-inflammatory drug use and risk of bladder cancer: a population based case control study

Author

Heaney John, Andrew Angeline S, Schned Alan, Zens Michael S, Kogevinas Manolis, Fortuny Joan, Kelsey Karl T, and Karagas Margaret R

Subjects
Diseases of the genitourinary system. Urology, RC870-923
Abstract

Abstract Background Use of phenacetin and other analgesic and non-steroidal anti-inflammatory drugs (NSAIDs) potentially influences bladder cancer incidence, but epidemiologic evidence is limited. Methods We analyzed data from 376 incident bladder cancer cases and 463 controls from a population-based case-control study in New Hampshire on whom regular use of analgesic drugs and NSAIDs was obtained. Odds ratios and 95% confidence intervals were computed using logistic regression with adjustment for potentially confounding factors. Separate models by tumor stage, grade and TP53 status were conducted. Results We found an elevated odds ratio (OR) associated with reported use of phenacetin-containing medications, especially with longer duration of use (OR >8 years = 3.00, 95% confidence interval (CI) = 1.4–6.5). In contrast, use of paracetamol did not relate overall to risk of bladder cancer. We also found that regular use of any NSAID was associated with a statistically significant decrease in bladder cancer risk (OR = 0.6, 95% CI = 0.4–0.9), and specifically use of aspirin. Further, the association with NSAID use was largely among invasive, high grade and TP53 positive tumors. Conclusion While these agents have been investigated in several studies, a number of questions remain regarding the effects of analgesic and NSAID use on risk of bladder cancer.

Published
2007
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7. Genome-wide Association Study of Bladder Cancer Reveals New Biological and Translational Insights

Author

Koutros, Stella, Kiemeney, Lambertus A., Pal Choudhury, Parichoy, Milne, Roger L., Lopez de Maturana, Evangelina, Ye, Yuanqing, Joseph, Vijai, Florez-Vargas, Oscar, Dyrskjøt, Lars, Figueroa, Jonine, Dutta, Diptavo, Giles, Graham G., Hildebrandt, Michelle A.T., Offit, Kenneth, Kogevinas, Manolis, Weiderpass, Elisabete, McCullough, Marjorie L., Freedman, Neal D., Albanes, Demetrius, Kooperberg, Charles, Cortessis, Victoria K., Karagas, Margaret R., Johnson, Alison, Schwenn, Molly R., Baris, Dalsu, Furberg, Helena, Bajorin, Dean F., Cussenot, Olivier, Cancel-Tassin, Geraldine, Benhamou, Simone, Kraft, Peter, Porru, Stefano, Carta, Angela, Bishop, Timothy, Southey, Melissa C., Matullo, Giuseppe, Fletcher, Tony, Kumar, Rajiv, Taylor, Jack A., Lamy, Philippe, Prip, Frederik, Kalisz, Mark, Weinstein, Stephanie J., Hengstler, Jan G., Selinski, Silvia, Harland, Mark, Teo, Mark, Kiltie, Anne E., Tardón, Adonina, Serra, Consol, Carrato, Alfredo, García-Closas, Reina, Lloreta, Josep, Schned, Alan, Lenz, Petra, Riboli, Elio, Brennan, Paul, Tjønneland, Anne, Otto, Thomas, Ovsiannikov, Daniel, Volkert, Frank, Vermeulen, Sita H., Aben, Katja K., Galesloot, Tessel E., Turman, Constance, De Vivo, Immaculata, Giovannucci, Edward, Hunter, David J., Hohensee, Chancellor, Hunt, Rebecca, Patel, Alpa V., Huang, Wen-Yi, Thorleifsson, Gudmar, Gago-Dominguez, Manuela, Amiano, Pilar, Golka, Klaus, Stern, Mariana C., Yan, Wusheng, Liu, Jia, Li, Shengchao Alfred, Katta, Shilpa, Hutchinson, Amy, Hicks, Belynda, Wheeler, William A., Purdue, Mark P., McGlynn, Katherine A., Kitahara, Cari M., Haiman, Christopher A., Greene, Mark H., Rafnar, Thorunn, Chatterjee, Nilanjan, Chanock, Stephen J., Wu, Xifeng, Real, Francisco X., Silverman, Debra T., Garcia-Closas, Montserrat, Stefansson, Kari, Prokunina-Olsson, Ludmila, Malats, Núria, and Rothman, Nathaniel

Published
2023
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9. Good mental health in people with intellectual disabilities: a systematic review.

Author

Komenda-Schned, Sophie, Landskron, Sarah Jasmin, Moritz, Paula, Brunevskaya, Nadine, Santambrogio, Jacopo, Salvador-Carulla, Luis, Lueger-Schuster, Brigitte, and Zeilinger, Elisabeth Lucia

Subjects
*PEOPLE with intellectual disabilities, *PSYCHOMETRICS, *PSYCHOSOCIAL functioning, *EVIDENCE gaps, *INTELLECTUAL disabilities
Abstract

While mental disorders have been broadly researched in people with intellectual disabilities (ID), comparatively less attention has been given to the conceptualisation of good mental health for this population. To capture existing concepts, definitions and measurement approaches of good mental health a systematic literature review was conducted following PRISMA guidelines. The search was carried out in eleven databases, using various synonyms of (i) intellectual disability, (ii) mental health, (iii) wellbeing, (iv) definition, and (v) assessment. A total of 2,046 datasets were identified, of which 37 met the inclusion criteria and were analysed using reflexive thematic analysis and content analysis. Results show four main themes: (1) environment, (2) absence of mental illness, (3) physical health, and (4) psychosocial functioning. The fourth was the most dominant theme and was further divided into five sub-themes: (1) emotionality, (2) interpersonal relations, (3) realise own potential, (4) personal resources, and (5) overall appraisal of life. Our findings reveal different conceptualisations of wellbeing, which is a vital part of good mental health, but highlight a notable research gap in the actual definition and conceptualisation of good mental health for people with ID. [ABSTRACT FROM AUTHOR]

Published
2024
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10. Obsolescence in IT Work: Causes, Consequences and Counter-Measures

Author

Gussek, Lisa, Schned, Lisa, Wiesche, Manuel, Spagnoletti, Paolo, Series Editor, De Marco, Marco, Series Editor, Pouloudi, Nancy, Series Editor, Te'eni, Dov, Series Editor, vom Brocke, Jan, Series Editor, Winter, Robert, Series Editor, Baskerville, Richard, Series Editor, Ahlemann, Frederik, editor, Schütte, Reinhard, editor, and Stieglitz, Stefan, editor

Published
2021
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13. Feasibility, tolerability, and first experience of intracystic treatment with peginterferon alfa-2a in patients with cystic craniopharyngioma.

Author

Hedrich, Cora, Patel, Priya, Haider, Lukas, Taylor, Tracey, Lau, Elaine, Hook, Roxanne, Dorfer, Christian, Roessler, Karl, Stepien, Natalia, Lippolis, Maria Aliotti, Schned, Hannah, Koeller, Clara, Mayr, Lisa, Azizi, Amedeo A., Peyrl, Andreas, Lopez, Bienvenido Ros, Lassaletta, Alvaro, Bennett, Julie, Gojo, Johannes, and Bartels, Ute

Subjects
CRANIOPHARYNGIOMA, CHRONIC diseases
Abstract

Background: Children with craniopharyngiomas (CPs) typically suffer from a life-long chronic disease. The younger the child, the more vulnerable the maturing brain is to invasive therapies such as surgery or radiotherapy. Therefore, treatment modalities facilitating avoidance or delay of invasive therapies are beneficial for these patients. In the last decade, intracystic injection of interferon alfa-2a or alfa-2b evolved as a treatment of choice based on efficacy and minor toxicity. However, the drug is no longer available internationally. After an extensive pharmacological review, peginterferon alfa-2a was identified as the agent with closest similarity. Methods: A retrospective case series is described, including five patients treated with intracystic peginterferon alfa-2a for cystic CP according to an innovative care protocol. After initial CP cyst aspiration, peginterferon alfa-2a was injected once per week via an Ommaya reservoir for 6 weeks followed by response assessment with MRI. Results: Patients' age ranged from 4 to 54 years (four patients <12 years, one adult patient). Intracystic therapy with peginterferon alfa-2a was tolerated well by all five individuals without any major toxicities and resulted in cyst shrinkage in all of the five patients. The importance of a permeability study prior to commencing intracystic therapy became apparent in one patient who suffered from cyst leakage. Conclusions: Intracystic treatment with peginterferon alfa-2a was found to be a tolerable and efficacious treatment modality in patients with cystic CP. This experience warrants further research with a larger number of patients with measurement of long-term efficacy and safety outcomes. [ABSTRACT FROM AUTHOR]

Published
2024
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15. Saliva Sampling for Prospective SARS-CoV-2 Screening of Healthcare Professionals

Author

Adalbert Raimann, Alex Farr, Mercedes Huscsava, Wilfried Krois, Robert Strassl, Julia Schellnegger, Fabian Eibensteiner, Bernadette Göschl, Hannah Schned, Philipp Steinbauer, Mathias Hetzmannseder, Fabian Stiegner, Susanne Greber-Platzer, Herbert Kiss, Paul L. Plener, Christoph Aufricht, Angelika Berger, and Michael Wagner

Subjects
COVID-19, healthcare provider, saliva, SARS-CoV-2, screening, Medicine (General), R5-920
Abstract

ObjectiveThe objective of this study was to analyze the feasibility and acceptance of a non-invasive, daily and proactive screening program for SARS-CoV-2 infection employing serial saliva testing, in combination with a digital questionnaire among healthcare providers (HCPs) in a multi-professional setting.DesignThis was a prospective cohort study involving HCPs from different units at a single tertiary care center, over a pilot phase of 4 weeks during the first wave of the COVID-19 pandemic from April 18th to June 6th, 2020.SettingPediatric tertiary patient care units, Comprehensive Center for Pediatrics, Medical University of Vienna.SubjectsHCPs from different units, including physicians, nurses, midwives, and administrative staff (with patient contact) were considered eligible for the study. Study participants were working in different settings in our center at varying levels of risk exposure.InterventionsSaliva collection from mouth gargle and electronic symptom and exposure monitoring (eSEM) was performed by participants at the onset of each regular clinical shift (day or night shift), using an anonymous ID for matching the results.MeasurementsRT-PCR of all saliva samples, eSEM, as well as feasibility and acceptance thereof.ResultsTwo hundred and seventy-five volunteers collected 1,865 saliva samples and responded 1,378 times in the eSEM during a 4-week period. 1,331 (96.7%) responses were that the testing was feasible and acceptable. The most common severe symptom during the 4-week period mentioned by HCPs was headache, reported 54 times (3.9%). Two SARS-CoV-2 positive samples—one of them being associated with symptoms—were identified. The acceptance rate among HCPs was 96.6%.ConclusionSerial saliva screening was a well-accepted and feasible method for monitoring SARS-CoV-2 infectious state in health care professionals. Combination of regular SARS-CoV-2 tests with sequential saliva collection and storage could potentially represent a highly efficient strategy to identify and trace virus positive staff for employee and patient safety.

Published
2022
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16. Impact of Retinopathy of Prematurity on Visual Motor Integration

Author

Daniel Lukas Zimmermann, Hannah Schned, Lukas Unterasinger, Lieselotte Kirchner, Renate Fuiko, Monika Olischar, Katrin Klebermass-Schrehof, Angelika Berger, Manfred Weninger, and Vito Giordano

Subjects
Pediatrics, Perinatology and Child Health, Developmental Biology
Abstract

Background: Preterm infants are at risk for neurodevelopmental deficits. An association between retinopathy of prematurity (ROP) and impaired cognitive outcome has already been described. However, less is known about the impact of ROP on visual motor integration (VMI), which is a prerequisite not only for fine motor abilities but also for further school skills. Therefore, the aim of this study was to retrospectively investigate the impact of ROP on VMI at preschool age. Methods: The study was conducted at the Medical University of Vienna, including patients born between January 2009 and December 2014 with a gestational age of less than 30 weeks and/or a birth weight of less than 1,500 g. VMI was determined by Beery-Buktenica Developmental Test of Visual Motor Integration (Beery VMI) at the age of 5 years. Results: Out of 1,365 patients, 353 met inclusion criteria for this study. Two hundred sixteen of them had no ROP, while 137 had ROP (stage 1: n = 23, stage 2: n = 74, stage 3: n = 40). Mean value of the Beery VMI score was significantly lower in the ROP group compared to the No-ROP group (90 ± 16 vs. 99 ± 14; p < 0.01). By correcting for other important medical conditions, ROP still had a significant impact on Beery VMI score (p < 0.01). Particularly, lower scores were found for stage 2 (p < 0.01) and stage 3 (p < 0.01). Conclusion: Beery VMI scores were significantly lower in preterm infants with ROP stage 2 and 3 than in infants without ROP. This study shows the negative impact of ROP on VMI skills at preschool age, even after adjustment for key demographic and medical characteristics.

Published
2023

17. Complaint of Testicular Discomfort in Patient with Esophageal Adenocarcinoma

Author

Kevin Krughoff, Alan Schned, Bing Ren, and Vernon M. Pais

Subjects
Diseases of the genitourinary system. Urology, RC870-923
Abstract

We report a case of esophageal cancer with solitary metastasis to the testicle in a 71-year-old man. The tumor was picked up on physical exam following new onset complaints of pain and swelling. While most testicular masses in older men are due to lymphoma, this case highlights the need to consider metastatic disease as a source of new symptoms in patients with a recent cancer diagnosis.

Published
2021
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18. Identification of methylated genes associated with aggressive bladder cancer.

Author

Marsit, Carmen J, Houseman, E Andres, Christensen, Brock C, Gagne, Luc, Wrensch, Margaret R, Nelson, Heather H, Wiemels, Joseph, Zheng, Shichun, Wiencke, John K, Andrew, Angeline S, Schned, Alan R, Karagas, Margaret R, and Kelsey, Karl T

Subjects
Cell Line, Tumor, Humans, Carcinoma, Transitional Cell, Neoplasm Invasiveness, Glycoproteins, Intracellular Signaling Peptides and Proteins, Homeodomain Proteins, Transcription Factors, DNA, Oligonucleotide Array Sequence Analysis, Gene Expression Profiling, DNA Methylation, Gene Expression Regulation, Neoplastic, CpG Islands, Middle Aged, Female, Male, Genes, Neoplasm, Urinary Bladder Neoplasms, Keratin-13, Genetic Loci, Cell Line, Tumor, Carcinoma, Transitional Cell, Gene Expression Regulation, Neoplastic, Genes, Neoplasm, General Science & Technology
Abstract

Approximately 500,000 individuals diagnosed with bladder cancer in the U.S. require routine cystoscopic follow-up to monitor for disease recurrences or progression, resulting in over $2 billion in annual expenditures. Identification of new diagnostic and monitoring strategies are clearly needed, and markers related to DNA methylation alterations hold great promise due to their stability, objective measurement, and known associations with the disease and with its clinical features. To identify novel epigenetic markers of aggressive bladder cancer, we utilized a high-throughput DNA methylation bead-array in two distinct population-based series of incident bladder cancer (n = 73 and n = 264, respectively). We then validated the association between methylation of these candidate loci with tumor grade in a third population (n = 245) through bisulfite pyrosequencing of candidate loci. Array based analyses identified 5 loci for further confirmation with bisulfite pyrosequencing. We identified and confirmed that increased promoter methylation of HOXB2 is significantly and independently associated with invasive bladder cancer and methylation of HOXB2, KRT13 and FRZB together significantly predict high-grade non-invasive disease. Methylation of these genes may be useful as clinical markers of the disease and may point to genes and pathways worthy of additional examination as novel targets for therapeutic treatment.

Published
2010

23. Data from The 19q12 Bladder Cancer GWAS Signal: Association with Cyclin E Function and Aggressive Disease

Author

Fu, Yi-Ping, primary, Kohaar, Indu, primary, Moore, Lee E., primary, Lenz, Petra, primary, Figueroa, Jonine D., primary, Tang, Wei, primary, Porter-Gill, Patricia, primary, Chatterjee, Nilanjan, primary, Scott-Johnson, Alexandra, primary, Garcia-Closas, Montserrat, primary, Muchmore, Brian, primary, Baris, Dalsu, primary, Paquin, Ashley, primary, Ylaya, Kris, primary, Schwenn, Molly, primary, Apolo, Andrea B., primary, Karagas, Margaret R., primary, Tarway, McAnthony, primary, Johnson, Alison, primary, Mumy, Adam, primary, Schned, Alan, primary, Guedez, Liliana, primary, Jones, Michael A., primary, Kida, Masatoshi, primary, Hosain, GM Monawar, primary, Malats, Nuria, primary, Kogevinas, Manolis, primary, Tardon, Adonina, primary, Serra, Consol, primary, Carrato, Alfredo, primary, Garcia-Closas, Reina, primary, Lloreta, Josep, primary, Wu, Xifeng, primary, Purdue, Mark, primary, Andriole, Gerald L., primary, Grubb, Robert L., primary, Black, Amanda, primary, Landi, Maria T., primary, Caporaso, Neil E., primary, Vineis, Paolo, primary, Siddiq, Afshan, primary, Bueno-de-Mesquita, H. Bas, primary, Trichopoulos, Dimitrios, primary, Ljungberg, Börje, primary, Severi, Gianluca, primary, Weiderpass, Elisabete, primary, Krogh, Vittorio, primary, Dorronsoro, Miren, primary, Travis, Ruth C., primary, Tjønneland, Anne, primary, Brennan, Paul, primary, Chang-Claude, Jenny, primary, Riboli, Elio, primary, Prescott, Jennifer, primary, Chen, Constance, primary, De Vivo, Immaculata, primary, Govannucci, Edward, primary, Hunter, David, primary, Kraft, Peter, primary, Lindstrom, Sara, primary, Gapstur, Susan M., primary, Jacobs, Eric J., primary, Diver, W. Ryan, primary, Albanes, Demetrius, primary, Weinstein, Stephanie J., primary, Virtamo, Jarmo, primary, Kooperberg, Charles, primary, Hohensee, Chancellor, primary, Rodabough, Rebecca J., primary, Cortessis, Victoria K., primary, Conti, David V., primary, Gago-Dominguez, Manuela, primary, Stern, Mariana C., primary, Pike, Malcolm C., primary, Van Den Berg, David, primary, Yuan, Jian-Min, primary, Haiman, Christopher A., primary, Cussenot, Olivier, primary, Cancel-Tassin, Geraldine, primary, Roupret, Morgan, primary, Comperat, Eva, primary, Porru, Stefano, primary, Carta, Angela, primary, Pavanello, Sofia, primary, Arici, Cecilia, primary, Mastrangelo, Giuseppe, primary, Grossman, H. Barton, primary, Wang, Zhaoming, primary, Deng, Xiang, primary, Chung, Charles C., primary, Hutchinson, Amy, primary, Burdette, Laurie, primary, Wheeler, William, primary, Fraumeni, Joseph, primary, Chanock, Stephen J., primary, Hewitt, Stephen M., primary, Silverman, Debra T., primary, Rothman, Nathaniel, primary, and Prokunina-Olsson, Ludmila, primary

Published
2023
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24. Supplementary Materials, Figures 1 - 3, Tables 1 - 4, 6 - 8 from The 19q12 Bladder Cancer GWAS Signal: Association with Cyclin E Function and Aggressive Disease

Author

Fu, Yi-Ping, primary, Kohaar, Indu, primary, Moore, Lee E., primary, Lenz, Petra, primary, Figueroa, Jonine D., primary, Tang, Wei, primary, Porter-Gill, Patricia, primary, Chatterjee, Nilanjan, primary, Scott-Johnson, Alexandra, primary, Garcia-Closas, Montserrat, primary, Muchmore, Brian, primary, Baris, Dalsu, primary, Paquin, Ashley, primary, Ylaya, Kris, primary, Schwenn, Molly, primary, Apolo, Andrea B., primary, Karagas, Margaret R., primary, Tarway, McAnthony, primary, Johnson, Alison, primary, Mumy, Adam, primary, Schned, Alan, primary, Guedez, Liliana, primary, Jones, Michael A., primary, Kida, Masatoshi, primary, Hosain, GM Monawar, primary, Malats, Nuria, primary, Kogevinas, Manolis, primary, Tardon, Adonina, primary, Serra, Consol, primary, Carrato, Alfredo, primary, Garcia-Closas, Reina, primary, Lloreta, Josep, primary, Wu, Xifeng, primary, Purdue, Mark, primary, Andriole, Gerald L., primary, Grubb, Robert L., primary, Black, Amanda, primary, Landi, Maria T., primary, Caporaso, Neil E., primary, Vineis, Paolo, primary, Siddiq, Afshan, primary, Bueno-de-Mesquita, H. Bas, primary, Trichopoulos, Dimitrios, primary, Ljungberg, Börje, primary, Severi, Gianluca, primary, Weiderpass, Elisabete, primary, Krogh, Vittorio, primary, Dorronsoro, Miren, primary, Travis, Ruth C., primary, Tjønneland, Anne, primary, Brennan, Paul, primary, Chang-Claude, Jenny, primary, Riboli, Elio, primary, Prescott, Jennifer, primary, Chen, Constance, primary, De Vivo, Immaculata, primary, Govannucci, Edward, primary, Hunter, David, primary, Kraft, Peter, primary, Lindstrom, Sara, primary, Gapstur, Susan M., primary, Jacobs, Eric J., primary, Diver, W. Ryan, primary, Albanes, Demetrius, primary, Weinstein, Stephanie J., primary, Virtamo, Jarmo, primary, Kooperberg, Charles, primary, Hohensee, Chancellor, primary, Rodabough, Rebecca J., primary, Cortessis, Victoria K., primary, Conti, David V., primary, Gago-Dominguez, Manuela, primary, Stern, Mariana C., primary, Pike, Malcolm C., primary, Van Den Berg, David, primary, Yuan, Jian-Min, primary, Haiman, Christopher A., primary, Cussenot, Olivier, primary, Cancel-Tassin, Geraldine, primary, Roupret, Morgan, primary, Comperat, Eva, primary, Porru, Stefano, primary, Carta, Angela, primary, Pavanello, Sofia, primary, Arici, Cecilia, primary, Mastrangelo, Giuseppe, primary, Grossman, H. Barton, primary, Wang, Zhaoming, primary, Deng, Xiang, primary, Chung, Charles C., primary, Hutchinson, Amy, primary, Burdette, Laurie, primary, Wheeler, William, primary, Fraumeni, Joseph, primary, Chanock, Stephen J., primary, Hewitt, Stephen M., primary, Silverman, Debra T., primary, Rothman, Nathaniel, primary, and Prokunina-Olsson, Ludmila, primary

Published
2023
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25. Supplementary Table 5 from The 19q12 Bladder Cancer GWAS Signal: Association with Cyclin E Function and Aggressive Disease

Author

Fu, Yi-Ping, primary, Kohaar, Indu, primary, Moore, Lee E., primary, Lenz, Petra, primary, Figueroa, Jonine D., primary, Tang, Wei, primary, Porter-Gill, Patricia, primary, Chatterjee, Nilanjan, primary, Scott-Johnson, Alexandra, primary, Garcia-Closas, Montserrat, primary, Muchmore, Brian, primary, Baris, Dalsu, primary, Paquin, Ashley, primary, Ylaya, Kris, primary, Schwenn, Molly, primary, Apolo, Andrea B., primary, Karagas, Margaret R., primary, Tarway, McAnthony, primary, Johnson, Alison, primary, Mumy, Adam, primary, Schned, Alan, primary, Guedez, Liliana, primary, Jones, Michael A., primary, Kida, Masatoshi, primary, Hosain, GM Monawar, primary, Malats, Nuria, primary, Kogevinas, Manolis, primary, Tardon, Adonina, primary, Serra, Consol, primary, Carrato, Alfredo, primary, Garcia-Closas, Reina, primary, Lloreta, Josep, primary, Wu, Xifeng, primary, Purdue, Mark, primary, Andriole, Gerald L., primary, Grubb, Robert L., primary, Black, Amanda, primary, Landi, Maria T., primary, Caporaso, Neil E., primary, Vineis, Paolo, primary, Siddiq, Afshan, primary, Bueno-de-Mesquita, H. Bas, primary, Trichopoulos, Dimitrios, primary, Ljungberg, Börje, primary, Severi, Gianluca, primary, Weiderpass, Elisabete, primary, Krogh, Vittorio, primary, Dorronsoro, Miren, primary, Travis, Ruth C., primary, Tjønneland, Anne, primary, Brennan, Paul, primary, Chang-Claude, Jenny, primary, Riboli, Elio, primary, Prescott, Jennifer, primary, Chen, Constance, primary, De Vivo, Immaculata, primary, Govannucci, Edward, primary, Hunter, David, primary, Kraft, Peter, primary, Lindstrom, Sara, primary, Gapstur, Susan M., primary, Jacobs, Eric J., primary, Diver, W. Ryan, primary, Albanes, Demetrius, primary, Weinstein, Stephanie J., primary, Virtamo, Jarmo, primary, Kooperberg, Charles, primary, Hohensee, Chancellor, primary, Rodabough, Rebecca J., primary, Cortessis, Victoria K., primary, Conti, David V., primary, Gago-Dominguez, Manuela, primary, Stern, Mariana C., primary, Pike, Malcolm C., primary, Van Den Berg, David, primary, Yuan, Jian-Min, primary, Haiman, Christopher A., primary, Cussenot, Olivier, primary, Cancel-Tassin, Geraldine, primary, Roupret, Morgan, primary, Comperat, Eva, primary, Porru, Stefano, primary, Carta, Angela, primary, Pavanello, Sofia, primary, Arici, Cecilia, primary, Mastrangelo, Giuseppe, primary, Grossman, H. Barton, primary, Wang, Zhaoming, primary, Deng, Xiang, primary, Chung, Charles C., primary, Hutchinson, Amy, primary, Burdette, Laurie, primary, Wheeler, William, primary, Fraumeni, Joseph, primary, Chanock, Stephen J., primary, Hewitt, Stephen M., primary, Silverman, Debra T., primary, Rothman, Nathaniel, primary, and Prokunina-Olsson, Ludmila, primary

Published
2023
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26. Genome-wide Association Study of Bladder Cancer Reveals New Biological and Translational Insights

Author

Koutros, S, Kiemeney, LA, Choudhury, PP, Milne, RL, de Maturana, EL, Ye, Y, Joseph, V, Florez-Vargas, O, Dyrskjot, L, Figueroa, J, Dutta, D, Giles, GG, Hildebrandt, MAT, Offit, K, Kogevinas, M, Weiderpass, E, McCullough, ML, Freedman, ND, Albanes, D, Kooperberg, C, Cortessis, VK, Karagas, MR, Johnson, A, Schwenn, MR, Baris, D, Furberg, H, Bajorin, DF, Cussenot, O, Cancel-Tassin, G, Benhamou, S, Kraft, P, Porru, S, Carta, A, Bishop, T, Southey, MC, Matullo, G, Fletcher, T, Kumar, R, Taylor, JA, Lamy, P, Prip, F, Kalisz, M, Weinstein, SJ, Hengstler, JG, Selinski, S, Harland, M, Teo, M, Kiltie, AE, Tardon, A, Serra, C, Carrato, A, Garcia-Closas, R, Lloreta, J, Schned, A, Lenz, P, Riboli, E, Brennan, P, Tjonneland, A, Otto, T, Ovsiannikov, D, Volkert, F, Vermeulen, SH, Aben, KK, Galesloot, TE, Turman, C, De Vivo, I, Giovannucci, E, Hunter, DJ, Hohensee, C, Hunt, R, V. Patel, A, Huang, W-Y, Thorleifsson, G, Gago-Dominguez, M, Amiano, P, Golka, K, Stern, MC, Yan, W, Liu, J, Alfred, S, Katta, S, Hutchinson, A, Hicks, B, Wheeler, WA, Purdue, MP, McGlynn, KA, Kitahara, CM, Haiman, CA, Greene, MH, Rafnar, T, Chatterjee, N, Chanock, SJ, Wu, X, Real, FX, Silverman, DT, Garcia-Closas, M, Stefansson, K, Prokunina-Olsson, L, Malats, N, Rothman, N, Koutros, S, Kiemeney, LA, Choudhury, PP, Milne, RL, de Maturana, EL, Ye, Y, Joseph, V, Florez-Vargas, O, Dyrskjot, L, Figueroa, J, Dutta, D, Giles, GG, Hildebrandt, MAT, Offit, K, Kogevinas, M, Weiderpass, E, McCullough, ML, Freedman, ND, Albanes, D, Kooperberg, C, Cortessis, VK, Karagas, MR, Johnson, A, Schwenn, MR, Baris, D, Furberg, H, Bajorin, DF, Cussenot, O, Cancel-Tassin, G, Benhamou, S, Kraft, P, Porru, S, Carta, A, Bishop, T, Southey, MC, Matullo, G, Fletcher, T, Kumar, R, Taylor, JA, Lamy, P, Prip, F, Kalisz, M, Weinstein, SJ, Hengstler, JG, Selinski, S, Harland, M, Teo, M, Kiltie, AE, Tardon, A, Serra, C, Carrato, A, Garcia-Closas, R, Lloreta, J, Schned, A, Lenz, P, Riboli, E, Brennan, P, Tjonneland, A, Otto, T, Ovsiannikov, D, Volkert, F, Vermeulen, SH, Aben, KK, Galesloot, TE, Turman, C, De Vivo, I, Giovannucci, E, Hunter, DJ, Hohensee, C, Hunt, R, V. Patel, A, Huang, W-Y, Thorleifsson, G, Gago-Dominguez, M, Amiano, P, Golka, K, Stern, MC, Yan, W, Liu, J, Alfred, S, Katta, S, Hutchinson, A, Hicks, B, Wheeler, WA, Purdue, MP, McGlynn, KA, Kitahara, CM, Haiman, CA, Greene, MH, Rafnar, T, Chatterjee, N, Chanock, SJ, Wu, X, Real, FX, Silverman, DT, Garcia-Closas, M, Stefansson, K, Prokunina-Olsson, L, Malats, N, and Rothman, N

Abstract

BACKGROUND: Genomic regions identified by genome-wide association studies (GWAS) for bladder cancer risk provide new insights into etiology. OBJECTIVE: To identify new susceptibility variants for bladder cancer in a meta-analysis of new and existing genome-wide genotype data. DESIGN, SETTING, AND PARTICIPANTS: Data from 32 studies that includes 13,790 bladder cancer cases and 343,502 controls of European ancestry were used for meta-analysis. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSES: Log-additive associations of genetic variants were assessed using logistic regression models. A fixed-effects model was used for meta-analysis of the results. Stratified analyses were conducted to evaluate effect modification by sex and smoking status. A polygenic risk score (PRS) was generated on the basis of known and novel susceptibility variants and tested for interaction with smoking. RESULTS AND LIMITATIONS: Multiple novel bladder cancer susceptibility loci (6p.22.3, 7q36.3, 8q21.13, 9p21.3, 10q22.1, 19q13.33) as well as improved signals in three known regions (4p16.3, 5p15.33, 11p15.5) were identified, bringing the number of independent markers at genome-wide significance (p < 5 × 10-8) to 24. The 4p16.3 (FGFR3/TACC3) locus was associated with a stronger risk for women than for men (p-interaction = 0.002). Bladder cancer risk was increased by interactions between smoking status and genetic variants at 8p22 (NAT2; multiplicative p value for interaction [pM-I] = 0.004), 8q21.13 (PAG1; pM-I = 0.01), and 9p21.3 (LOC107987026/MTAP/CDKN2A; pM-I = 0.02). The PRS based on the 24 independent GWAS markers (odds ratio per standard deviation increase 1.49, 95% confidence interval 1.44-1.53), which also showed comparable results in two prospective cohorts (UK Biobank, PLCO trial), revealed an approximately fourfold difference in the lifetime risk of bladder cancer according to the PRS (e.g., 1st vs 10th decile) for both smokers and nonsmokers. CONCLUSIONS: We report novel loci associated

Published
2023

27. Genome-wide Association Study of Bladder Cancer Reveals New Biological and Translational Insights.

Author

Koutros, S., Kiemeney, L.A., Pal Choudhury, P., Milne, R.L., Lopez de Maturana, E., Ye, Y., Joseph, V., Florez-Vargas, O., Dyrskjøt, L., Figueroa, J., Dutta, D., Giles, G.G., Hildebrandt, M.A.T., Offit, K., Kogevinas, M., Weiderpass, E., McCullough, M.L., Freedman, N.D., Albanes, D., Kooperberg, C., Cortessis, V.K., Karagas, M.R., Johnson, A., Schwenn, M.R., Baris, D., Furberg, H., Bajorin, D.F., Cussenot, O., Cancel-Tassin, G., Benhamou, S., Kraft, P., Porru, S., Carta, A., Bishop, T., Southey, M.C., Matullo, G., Fletcher, T., Kumar, R., Taylor, J.A., Lamy, P., Prip, F., Kalisz, M., Weinstein, S.J., Hengstler, J.G., Selinski, S., Harland, M., Teo, M., Kiltie, A.E., Tardón, A., Serra, C., Carrato, A., García-Closas, R., Lloreta, J., Schned, A., Lenz, P., Riboli, E., Brennan, P., Tjønneland, A., Otto, T., Ovsiannikov, D., Volkert, F., Vermeulen, S.H., Aben, K.K.H., Galesloot, T.E., Turman, C., Vivo, I. De, Giovannucci, E., Hunter, D.J., Hohensee, C., Hunt, R., Patel, A.V., Huang, W.Y., Thorleifsson, G., Gago-Dominguez, M., Amiano, P., Golka, K., Stern, M.C., Yan, W., Liu, J., Li, S.A., Katta, S., Hutchinson, A., Hicks, B., Wheeler, W.A., Purdue, M.P., McGlynn, K.A., Kitahara, C.M., Haiman, C.A., Greene, M.H., Rafnar, T., Chatterjee, N., Chanock, S.J., Wu, X., Real, F.X., Silverman, D.T., Garcia-Closas, M., Stefansson, K., Prokunina-Olsson, L., Malats, N., Rothman, N., Koutros, S., Kiemeney, L.A., Pal Choudhury, P., Milne, R.L., Lopez de Maturana, E., Ye, Y., Joseph, V., Florez-Vargas, O., Dyrskjøt, L., Figueroa, J., Dutta, D., Giles, G.G., Hildebrandt, M.A.T., Offit, K., Kogevinas, M., Weiderpass, E., McCullough, M.L., Freedman, N.D., Albanes, D., Kooperberg, C., Cortessis, V.K., Karagas, M.R., Johnson, A., Schwenn, M.R., Baris, D., Furberg, H., Bajorin, D.F., Cussenot, O., Cancel-Tassin, G., Benhamou, S., Kraft, P., Porru, S., Carta, A., Bishop, T., Southey, M.C., Matullo, G., Fletcher, T., Kumar, R., Taylor, J.A., Lamy, P., Prip, F., Kalisz, M., Weinstein, S.J., Hengstler, J.G., Selinski, S., Harland, M., Teo, M., Kiltie, A.E., Tardón, A., Serra, C., Carrato, A., García-Closas, R., Lloreta, J., Schned, A., Lenz, P., Riboli, E., Brennan, P., Tjønneland, A., Otto, T., Ovsiannikov, D., Volkert, F., Vermeulen, S.H., Aben, K.K.H., Galesloot, T.E., Turman, C., Vivo, I. De, Giovannucci, E., Hunter, D.J., Hohensee, C., Hunt, R., Patel, A.V., Huang, W.Y., Thorleifsson, G., Gago-Dominguez, M., Amiano, P., Golka, K., Stern, M.C., Yan, W., Liu, J., Li, S.A., Katta, S., Hutchinson, A., Hicks, B., Wheeler, W.A., Purdue, M.P., McGlynn, K.A., Kitahara, C.M., Haiman, C.A., Greene, M.H., Rafnar, T., Chatterjee, N., Chanock, S.J., Wu, X., Real, F.X., Silverman, D.T., Garcia-Closas, M., Stefansson, K., Prokunina-Olsson, L., Malats, N., and Rothman, N.

Abstract

01 juli 2023, Item does not contain fulltext, BACKGROUND: Genomic regions identified by genome-wide association studies (GWAS) for bladder cancer risk provide new insights into etiology. OBJECTIVE: To identify new susceptibility variants for bladder cancer in a meta-analysis of new and existing genome-wide genotype data. DESIGN, SETTING, AND PARTICIPANTS: Data from 32 studies that includes 13,790 bladder cancer cases and 343,502 controls of European ancestry were used for meta-analysis. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSES: Log-additive associations of genetic variants were assessed using logistic regression models. A fixed-effects model was used for meta-analysis of the results. Stratified analyses were conducted to evaluate effect modification by sex and smoking status. A polygenic risk score (PRS) was generated on the basis of known and novel susceptibility variants and tested for interaction with smoking. RESULTS AND LIMITATIONS: Multiple novel bladder cancer susceptibility loci (6p.22.3, 7q36.3, 8q21.13, 9p21.3, 10q22.1, 19q13.33) as well as improved signals in three known regions (4p16.3, 5p15.33, 11p15.5) were identified, bringing the number of independent markers at genome-wide significance (p < 5 × 10(-8)) to 24. The 4p16.3 (FGFR3/TACC3) locus was associated with a stronger risk for women than for men (p-interaction = 0.002). Bladder cancer risk was increased by interactions between smoking status and genetic variants at 8p22 (NAT2; multiplicative p value for interaction [p(M-I)] = 0.004), 8q21.13 (PAG1; p(M-I) = 0.01), and 9p21.3 (LOC107987026/MTAP/CDKN2A; p(M-I) = 0.02). The PRS based on the 24 independent GWAS markers (odds ratio per standard deviation increase 1.49, 95% confidence interval 1.44-1.53), which also showed comparable results in two prospective cohorts (UK Biobank, PLCO trial), revealed an approximately fourfold difference in the lifetime risk of bladder cancer according to the PRS (e.g., 1st vs 10th decile) for both smokers and nonsmokers. CONCLUSIONS: We report novel loci ass

Published
2023

28. Proof-of-Concept for Liquid Biopsy Disease Monitoring of MYC-Amplified Group 3 Medulloblastoma by Droplet Digital PCR

Author

Natalia Stepien, Daniel Senfter, Julia Furtner, Christine Haberler, Christian Dorfer, Thomas Czech, Daniela Lötsch-Gojo, Lisa Mayr, Cora Hedrich, Alicia Baumgartner, Maria Aliotti-Lippolis, Hannah Schned, Johannes Holler, Katharina Bruckner, Irene Slavc, Amedeo A. Azizi, Andreas Peyrl, Leonhard Müllauer, Sibylle Madlener, and Johannes Gojo

Subjects
Cancer Research, liquid biopsy, droplet digital PCR, medulloblastoma, group 3, MYC amplification, minimal residual disease, therapy monitoring, cerebrospinal fluid, pediatric oncology, Oncology
Abstract

Background: Liquid biopsy diagnostic methods are an emerging complementary tool to imaging and pathology techniques across various cancer types. However, there is still no established method for the detection of molecular alterations and disease monitoring in MB, the most common malignant CNS tumor in the pediatric population. In the presented study, we investigated droplet digital polymerase chain reaction (ddPCR) as a highly sensitive method for the detection of MYC amplification in bodily fluids of group 3 MB patients. Methods: We identified a cohort of five MYC-amplified MBs by methylation array and FISH. Predesigned and wet-lab validated probes for ddPCR were used to establish the detection method and were validated in two MYC-amplified MB cell lines as well as tumor tissue of the MYC-amplified cohort. Finally, a total of 49 longitudinal CSF samples were analyzed at multiple timepoints during the course of the disease. Results: Detection of MYC amplification by ddPCR in CSF showed a sensitivity and specificity of 90% and 100%, respectively. We observed a steep increase in amplification rate (AR) at disease progression in 3/5 cases. ddPCR was proven to be more sensitive than cytology for the detection of residual disease. In contrast to CSF, MYC amplification was not detectable by ddPCR in blood samples. Conclusions: ddPCR proves to be a sensitive and specific method for the detection of MYC amplification in the CSF of MB patients. These results warrant implementation of liquid biopsy in future prospective clinical trials to validate the potential for improved diagnosis, disease staging and monitoring.

Published
2023
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29. Supplementary Table 5 from The 19q12 Bladder Cancer GWAS Signal: Association with Cyclin E Function and Aggressive Disease

Author

Ludmila Prokunina-Olsson, Nathaniel Rothman, Debra T. Silverman, Stephen M. Hewitt, Stephen J. Chanock, Joseph Fraumeni, William Wheeler, Laurie Burdette, Amy Hutchinson, Charles C. Chung, Xiang Deng, Zhaoming Wang, H. Barton Grossman, Giuseppe Mastrangelo, Cecilia Arici, Sofia Pavanello, Angela Carta, Stefano Porru, Eva Comperat, Morgan Roupret, Geraldine Cancel-Tassin, Olivier Cussenot, Christopher A. Haiman, Jian-Min Yuan, David Van Den Berg, Malcolm C. Pike, Mariana C. Stern, Manuela Gago-Dominguez, David V. Conti, Victoria K. Cortessis, Rebecca J. Rodabough, Chancellor Hohensee, Charles Kooperberg, Jarmo Virtamo, Stephanie J. Weinstein, Demetrius Albanes, W. Ryan Diver, Eric J. Jacobs, Susan M. Gapstur, Sara Lindstrom, Peter Kraft, David Hunter, Edward Govannucci, Immaculata De Vivo, Constance Chen, Jennifer Prescott, Elio Riboli, Jenny Chang-Claude, Paul Brennan, Anne Tjønneland, Ruth C. Travis, Miren Dorronsoro, Vittorio Krogh, Elisabete Weiderpass, Gianluca Severi, Börje Ljungberg, Dimitrios Trichopoulos, H. Bas Bueno-de-Mesquita, Afshan Siddiq, Paolo Vineis, Neil E. Caporaso, Maria T. Landi, Amanda Black, Robert L. Grubb, Gerald L. Andriole, Mark Purdue, Xifeng Wu, Josep Lloreta, Reina Garcia-Closas, Alfredo Carrato, Consol Serra, Adonina Tardon, Manolis Kogevinas, Nuria Malats, GM Monawar Hosain, Masatoshi Kida, Michael A. Jones, Liliana Guedez, Alan Schned, Adam Mumy, Alison Johnson, McAnthony Tarway, Margaret R. Karagas, Andrea B. Apolo, Molly Schwenn, Kris Ylaya, Ashley Paquin, Dalsu Baris, Brian Muchmore, Montserrat Garcia-Closas, Alexandra Scott-Johnson, Nilanjan Chatterjee, Patricia Porter-Gill, Wei Tang, Jonine D. Figueroa, Petra Lenz, Lee E. Moore, Indu Kohaar, and Yi-Ping Fu

Abstract

Association between CCNE1 variants and bladder cancer

Published
2023

30. Supplementary Materials, Figures 1 - 3, Tables 1 - 4, 6 - 8 from The 19q12 Bladder Cancer GWAS Signal: Association with Cyclin E Function and Aggressive Disease

Author

Ludmila Prokunina-Olsson, Nathaniel Rothman, Debra T. Silverman, Stephen M. Hewitt, Stephen J. Chanock, Joseph Fraumeni, William Wheeler, Laurie Burdette, Amy Hutchinson, Charles C. Chung, Xiang Deng, Zhaoming Wang, H. Barton Grossman, Giuseppe Mastrangelo, Cecilia Arici, Sofia Pavanello, Angela Carta, Stefano Porru, Eva Comperat, Morgan Roupret, Geraldine Cancel-Tassin, Olivier Cussenot, Christopher A. Haiman, Jian-Min Yuan, David Van Den Berg, Malcolm C. Pike, Mariana C. Stern, Manuela Gago-Dominguez, David V. Conti, Victoria K. Cortessis, Rebecca J. Rodabough, Chancellor Hohensee, Charles Kooperberg, Jarmo Virtamo, Stephanie J. Weinstein, Demetrius Albanes, W. Ryan Diver, Eric J. Jacobs, Susan M. Gapstur, Sara Lindstrom, Peter Kraft, David Hunter, Edward Govannucci, Immaculata De Vivo, Constance Chen, Jennifer Prescott, Elio Riboli, Jenny Chang-Claude, Paul Brennan, Anne Tjønneland, Ruth C. Travis, Miren Dorronsoro, Vittorio Krogh, Elisabete Weiderpass, Gianluca Severi, Börje Ljungberg, Dimitrios Trichopoulos, H. Bas Bueno-de-Mesquita, Afshan Siddiq, Paolo Vineis, Neil E. Caporaso, Maria T. Landi, Amanda Black, Robert L. Grubb, Gerald L. Andriole, Mark Purdue, Xifeng Wu, Josep Lloreta, Reina Garcia-Closas, Alfredo Carrato, Consol Serra, Adonina Tardon, Manolis Kogevinas, Nuria Malats, GM Monawar Hosain, Masatoshi Kida, Michael A. Jones, Liliana Guedez, Alan Schned, Adam Mumy, Alison Johnson, McAnthony Tarway, Margaret R. Karagas, Andrea B. Apolo, Molly Schwenn, Kris Ylaya, Ashley Paquin, Dalsu Baris, Brian Muchmore, Montserrat Garcia-Closas, Alexandra Scott-Johnson, Nilanjan Chatterjee, Patricia Porter-Gill, Wei Tang, Jonine D. Figueroa, Petra Lenz, Lee E. Moore, Indu Kohaar, and Yi-Ping Fu

Abstract

Supplementary Figure 1: Electrophoretic mobility shift assays (EMSA) for CCNE1 SNPs rs8102137 and rs7257330. Supplementary Figure 2: Alignment of cyclin E protein isoforms - WT1, WT2 and ES and ET. Supplementary Figure 3: Functional analysis of cyclin E isoforms.Supplementary Table 1: Description of sub-studies included in NCI-GWAS1 and GWAS2 of bladder cancer. Supplementary Table 2: Characteristics of bladder tissue samples used for mRNA expression analysis. Supplementary Table 3: PCR primers, genotyping and gene expression assays, EMSA probes and antibodies. Supplementary Table 4: Bladder cancer stage and grade information for patients in the combined GWAS1+2 set. Supplementary Table 6: Association with bladder cancer risk with mutual adjustment for CCNE1 variants. Supplementary Table 7: Association with bladder cancer risk for CCNE1 variants previously associated with other cancers and for two non-synonymous coding variants. Supplementary Table 8: Association between cyclin E protein expression (IHC scores), bladder cancer patient characteristics and CCNE1 variants.

Published
2023

33. Genome-wide Association Study of Bladder Cancer Reveals New Biological and Translational Insights

Author

Stella Koutros, Lambertus A. Kiemeney, Parichoy Pal Choudhury, Roger L. Milne, Evangelina Lopez de Maturana, Yuanqing Ye, Vijai Joseph, Oscar Florez-Vargas, Lars Dyrskjøt, Jonine Figueroa, Diptavo Dutta, Graham G. Giles, Michelle A.T. Hildebrandt, Kenneth Offit, Manolis Kogevinas, Elisabete Weiderpass, Marjorie L. McCullough, Neal D. Freedman, Demetrius Albanes, Charles Kooperberg, Victoria K. Cortessis, Margaret R. Karagas, Alison Johnson, Molly R. Schwenn, Dalsu Baris, Helena Furberg, Dean F. Bajorin, Olivier Cussenot, Geraldine Cancel-Tassin, Simone Benhamou, Peter Kraft, Stefano Porru, Angela Carta, Timothy Bishop, Melissa C. Southey, Giuseppe Matullo, Tony Fletcher, Rajiv Kumar, Jack A. Taylor, Philippe Lamy, Frederik Prip, Mark Kalisz, Stephanie J. Weinstein, Jan G. Hengstler, Silvia Selinski, Mark Harland, Mark Teo, Anne E. Kiltie, Adonina Tardón, Consol Serra, Alfredo Carrato, Reina García-Closas, Josep Lloreta, Alan Schned, Petra Lenz, Elio Riboli, Paul Brennan, Anne Tjønneland, Thomas Otto, Daniel Ovsiannikov, Frank Volkert, Sita H. Vermeulen, Katja K. Aben, Tessel E. Galesloot, Constance Turman, Immaculata De Vivo, Edward Giovannucci, David J. Hunter, Chancellor Hohensee, Rebecca Hunt, Alpa V. Patel, Wen-Yi Huang, Gudmar Thorleifsson, Manuela Gago-Dominguez, Pilar Amiano, Klaus Golka, Mariana C. Stern, Wusheng Yan, Jia Liu, Shengchao Alfred Li, Shilpa Katta, Amy Hutchinson, Belynda Hicks, William A. Wheeler, Mark P. Purdue, Katherine A. McGlynn, Cari M. Kitahara, Christopher A. Haiman, Mark H. Greene, Thorunn Rafnar, Nilanjan Chatterjee, Stephen J. Chanock, Xifeng Wu, Francisco X. Real, Debra T. Silverman, Montserrat Garcia-Closas, Kari Stefansson, Ludmila Prokunina-Olsson, Núria Malats, and Nathaniel Rothman

Subjects
Genome-Wide Association Study (GWAS), Germline genetics, All institutes and research themes of the Radboud University Medical Center, Urology, Urological cancers Radboud Institute for Health Sciences [Radboudumc 15], Bladder cancer, Gene-environment interaction
Abstract

Contains fulltext : 293880.pdf (Publisher’s version ) (Closed access) BACKGROUND: Genomic regions identified by genome-wide association studies (GWAS) for bladder cancer risk provide new insights into etiology. OBJECTIVE: To identify new susceptibility variants for bladder cancer in a meta-analysis of new and existing genome-wide genotype data. DESIGN, SETTING, AND PARTICIPANTS: Data from 32 studies that includes 13,790 bladder cancer cases and 343,502 controls of European ancestry were used for meta-analysis. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSES: Log-additive associations of genetic variants were assessed using logistic regression models. A fixed-effects model was used for meta-analysis of the results. Stratified analyses were conducted to evaluate effect modification by sex and smoking status. A polygenic risk score (PRS) was generated on the basis of known and novel susceptibility variants and tested for interaction with smoking. RESULTS AND LIMITATIONS: Multiple novel bladder cancer susceptibility loci (6p.22.3, 7q36.3, 8q21.13, 9p21.3, 10q22.1, 19q13.33) as well as improved signals in three known regions (4p16.3, 5p15.33, 11p15.5) were identified, bringing the number of independent markers at genome-wide significance (p

Published
2023

34. Diet Quality and Survival in a Population-Based Bladder Cancer Study

Author

Reno C. Leeming, Margaret R. Karagas, Diane Gilbert-Diamond, Jennifer A. Emond, Michael S. Zens, Alan R. Schned, John D. Seigne, and Michael N. Passarelli

Subjects
Cancer Research, Nutrition and Dietetics, Urinary Bladder Neoplasms, Oncology, Sodium, Humans, Medicine (miscellaneous), Diet, Healthy, Article, Diet, Proportional Hazards Models
Abstract

Nutrition may impact bladder cancer survival. We examined the association between diet quality and overall and bladder cancer-specific survival. Bladder cancer cases from a population-based study reported pre-diagnosis diet. Diet quality was assessed using the 2010 Alternate Healthy Eating Index (AHEI-2010). Vital status was ascertained from the National Death Index. Adjusted hazard ratios (HR) and 95% confidence intervals (CI) were estimated using proportional hazards and competing risks regression models. Overall AHEI-2010 adherence was not associated with overall or bladder cancer-specific survival among non-muscle invasive bladder cancer (NMIBC) cases (HR, 1.00; 95% CI, 0.98–1.01; HR, 1.00; 95% CI, 0.97–1.02) or muscle invasive bladder cancer (MIBC) cases (HR, 0.99; 95% CI, 0.96–1.03; HR, 1.01, 95% CI 0.97–1.06). AHEI-2010 sugar-sweetened beverages adherence was associated with poorer overall survival (HR, 1.04; 95% CI, 1.01–1.08) and AHEI-2010 sodium adherence was associated with better overall and bladder cancer-specific survival after NMIBC diagnosis (HR, 0.92, 95% CI, 0.85–1.00; HR, 0.82; 95% CI, 0.68–0.98). AHEI-2010 fruit adherence was associated with poorer overall and bladder cancer-specific survival after MIBC diagnosis (HR, 1.17; 95% CI, 1.02–1.33; HR, 1.26; 95% CI, 1.03–1.55). Consumption of sugar-sweetened beverages, sodium, and fruit, not overall AHEI-2010 adherence, may be associated with bladder cancer survival.

Published
2021

39. Impact of Retinopathy of Prematurity on Visual Motor Integration.

Author

Zimmermann, Daniel Lukas, Schned, Hannah, Unterasinger, Lukas, Kirchner, Lieselotte, Fuiko, Renate, Olischar, Monika, Klebermass-Schrehof, Katrin, Berger, Angelika, Weninger, Manfred, and Giordano, Vito

Subjects
*RETROLENTAL fibroplasia, *FINE motor ability, *PREMATURE infants, *BIRTH weight, *GESTATIONAL age
Abstract

Background: Preterm infants are at risk for neurodevelopmental deficits. An association between retinopathy of prematurity (ROP) and impaired cognitive outcome has already been described. However, less is known about the impact of ROP on visual motor integration (VMI), which is a prerequisite not only for fine motor abilities but also for further school skills. Therefore, the aim of this study was to retrospectively investigate the impact of ROP on VMI at preschool age. Methods: The study was conducted at the Medical University of Vienna, including patients born between January 2009 and December 2014 with a gestational age of less than 30 weeks and/or a birth weight of less than 1,500 g. VMI was determined by Beery-Buktenica Developmental Test of Visual Motor Integration (Beery VMI) at the age of 5 years. Results: Out of 1,365 patients, 353 met inclusion criteria for this study. Two hundred sixteen of them had no ROP, while 137 had ROP (stage 1: n = 23, stage 2: n = 74, stage 3: n = 40). Mean value of the Beery VMI score was significantly lower in the ROP group compared to the No-ROP group (90 ± 16 vs. 99 ± 14; p < 0.01). By correcting for other important medical conditions, ROP still had a significant impact on Beery VMI score (p < 0.01). Particularly, lower scores were found for stage 2 (p < 0.01) and stage 3 (p < 0.01). Conclusion: Beery VMI scores were significantly lower in preterm infants with ROP stage 2 and 3 than in infants without ROP. This study shows the negative impact of ROP on VMI skills at preschool age, even after adjustment for key demographic and medical characteristics. [ABSTRACT FROM AUTHOR]

Published
2023
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40. Consequence of neonatal pain and sedation in animal models

Author

Steinbauer, Philipp, Monje, Francisco, Kothgassner, Oswald, Goreis, Andreas, Chwala, Eva, Wildner, Brigitte, Schned, Hannah, Deindl, Philipp, Seki, David, Berger, Angelika, Olischar, Monika, and Giordano, Vito

Abstract

An extensive meta-analysis concerning apoptosis, motor and behavioral outcomes.

Published
2022
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41. Development of a 3D printed patient-specific neonatal brain simulation model using multimodality imaging for perioperative management

Author

Gregor Kasprian, Christian Dorfer, Katharina Goeral, Ewald Unger, Philipp Steinbauer, Hannah Schned, G.O. Dovjak, Tobias Werther, Michael Wagner, Monika Olischar, Angelika Berger, Karl Roessler, and Gunpreet Oberoi

Subjects
3d printed, medicine.medical_specialty, medicine.diagnostic_test, Perioperative management, business.industry, Ultrasound, Infant, Newborn, Brain, Magnetic resonance imaging, Ventricular system, Models, Biological, Multimodal Imaging, Surgical planning, Perioperative Care, Neuroimaging, Printing, Three-Dimensional, Pediatrics, Perinatology and Child Health, medicine, Humans, 3D ultrasound, Radiology, business, Retrospective Studies
Abstract

BACKGROUND Medical-imaging-based three-dimensional (3D) printed models enable improvement in skills training, surgical planning, and decision-making. This pilot study aimed to use multimodality imaging and to add and compare 3D ultrasound as a future standard to develop realistic neonatal brain models including the ventricular system. METHODS Retrospective computed tomography (CT), magnetic resonance imaging (MRI), and 3D ultrasound-based brain imaging protocols of five neonatal patients were analyzed and subsequently segmented with the aim of developing a multimodality imaging-based 3D printed model. The ventricular anatomy was analyzed to compare the MRI and 3D ultrasound modalities. RESULTS A realistic anatomical model of the neonatal brain, including the ventricular system, was created using MRI and 3D ultrasound data from one patient. T2-weighted isovoxel 3D MRI sequences were found to have better resolution and accuracy than 2D sequences. The surface area, anatomy, and volume of the lateral ventricles derived from both MRI and 3D ultrasound were comparable. CONCLUSIONS We created an ultrasound- and MRI-based 3D printed patient-specific neonatal brain simulation model that can be used for perioperative management. To introduce 3D ultrasound as a standard for 3D models, additional dimensional correlations between MRI and ultrasound need to be examined. IMPACT We studied the feasibility of implementing 3D ultrasound as a standard for 3D printed models of the neonatal brain. Different imaging modalities were compared and both 3D isotropic MRI and 3D ultrasound imaging are feasible for printing neonatal brain models with good dimensional accuracy and anatomical replication. Further dimensional correlations need to be defined to implement it as a standard to produce 3D printed models.

Published
2021

42. Bladder cancer risk variants and overall and disease‐specific survival in two independent cohorts

Author

Michael S. Zens, Alan R. Schned, Michael N. Passarelli, Margaret R. Karagas, John D. Seigne, and Reno C. Leeming

Subjects
Male, Oncology, Carcinoma, Transitional Cell, medicine.medical_specialty, Bladder cancer, business.industry, Urology, Disease specific survival, Urinary Bladder, Prognosis, medicine.disease, Article, Urinary Bladder Neoplasms, Internal medicine, Humans, Medicine, Female, business
Published
2021

43. Bladder cancer prognosis using deep neural networks and histopathology images

Author

Wayner Barrios, Behnaz Abdollahi, Manu Goyal, Qingyuan Song, Matthew Suriawinata, Ryland Richards, Bing Ren, Alan Schned, John Seigne, Margaret Karagas, and Saeed Hassanpour

Subjects
Health Informatics, Computer Science Applications, Pathology and Forensic Medicine
Abstract

Recent studies indicate that bladder cancer is among the top 10 most common cancers in the world (Saginala et al. 2022). Bladder cancer frequently reoccurs, and prognostic judgments may vary among clinicians. As a favorable prognosis may help to inform less aggressive treatment plans, classification of histopathology slides is essential for the accurate prognosis and effective treatment of bladder cancer patients. Developing automated and accurate histopathology image analysis methods can help pathologists determine the prognosis of patients with bladder cancer.In this study, we introduced Bladder4Net, a deep learning pipeline, to classify whole-slide histopathology images of bladder cancer into two classes: low-risk (combination of PUNLMP and low-grade tumors) and high-risk (combination of high-grade and invasive tumors). This pipeline consists of four convolutional neural network (CNN)-based classifiers to address the difficulties of identifying PUNLMP and invasive classes. We evaluated our pipeline on 182 independent whole-slide images from the New Hampshire Bladder Cancer Study (NHBCS) (Karagas et al., 1998; Sverrisson et al., 2014; Sverrisson et al., 2014) collected from 1994 to 2004 and 378 external digitized slides from The Cancer Genome Atlas (TCGA) database (https://www.cancer.gov/tcga).The weighted average F1-score of our approach was 0.91 (95% confidence interval (CI): 0.86-0.94) on the NHBCS dataset and 0.99 (95% CI: 0.97-1.00) on the TCGA dataset. Additionally, we computed Kaplan-Meier survival curves for patients who were predicted as high risk versus those predicted as low risk. For the NHBCS test set, patients predicted as high risk had worse overall survival than those predicted as low risk, with a log-rank p-value of 0.004.If validated through prospective trials, our model could be used in clinical settings to improve patient care.

Published
2022

44. Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for 13 Cancer Types

Author

Sampson, Joshua N., Wheeler, William A., Yeager, Meredith, Panagiotou, Orestis, Wang, Zhaoming, Berndt, Sonja I., Lan, Qing, Abnet, Christian C., Amundadottir, Laufey T., Figueroa, Jonine D., Landi, Maria Teresa, Mirabello, Lisa, Savage, Sharon A., Taylor, Philip R., Vivo, Immaculata De, McGlynn, Katherine A., Purdue, Mark P., Rajaraman, Preetha, Adami, Hans-Olov, Ahlbom, Anders, Albanes, Demetrius, Amary, Maria Fernanda, An, She-Juan, Andersson, Ulrika, Andriole, Gerald, Jr., Andrulis, Irene L., Angelucci, Emanuele, Ansell, Stephen M., Arici, Cecilia, Armstrong, Bruce K., Arslan, Alan A., Austin, Melissa A., Baris, Dalsu, Barkauskas, Donald A., Bassig, Bryan A., Becker, Nikolaus, Benavente, Yolanda, Benhamou, Simone, Berg, Christine, Van Den Berg, David, Bernstein, Leslie, Bertrand, Kimberly A., Birmann, Brenda M., Black, Amanda, Boeing, Heiner, Boffetta, Paolo, Boutron-Ruault, Marie-Christine, Bracci, Paige M., Brinton, Louise, Brooks-Wilson, Angela R., Bueno-de-Mesquita, H. Bas, Burdett, Laurie, Buring, Julie, Butler, Mary Ann, Cai, Qiuyin, Cancel-Tassin, Geraldine, Canzian, Federico, Carrato, Alfredo, Carreon, Tania, Carta, Angela, Chan, John K. C., Chang, Ellen T., Chang, Gee-Chen, Chang, I-Shou, Chang, Jiang, Chang-Claude, Jenny, Chen, Chien-Jen, Chen, Chih-Yi, Chen, Chu, Chen, Chung-Hsing, Chen, Constance, Chen, Hongyan, Chen, Kexin, Chen, Kuan-Yu, Chen, Kun-Chieh, Chen, Ying, Chen, Ying-Hsiang, Chen, Yi-Song, Chen, Yuh-Min, Chien, Li-Hsin, Chirlaque, María-Dolores, Choi, Jin Eun, Choi, Yi Young, Chow, Wong-Ho, Chung, Charles C., Clavel, Jacqueline, Clavel-Chapelon, Françoise, Cocco, Pierluigi, Colt, Joanne S., Comperat, Eva, Conde, Lucia, Connors, Joseph M., Conti, David, Cortessis, Victoria K., Cotterchio, Michelle, Cozen, Wendy, Crouch, Simon, Crous-Bou, Marta, Cussenot, Olivier, Davis, Faith G., Ding, Ti, Diver, W. Ryan, Dorronsoro, Miren, Dossus, Laure, Duell, Eric J., Ennas, Maria Grazia, Erickson, Ralph L., Feychting, Maria, Flanagan, Adrienne M., Foretova, Lenka, Fraumeni, Joseph F., Jr, Freedman, Neal D., Beane Freeman, Laura E., Fuchs, Charles, Gago-Dominguez, Manuela, Gallinger, Steven, Gao, Yu-Tang, Gapstur, Susan M., Garcia-Closas, Montserrat, García-Closas, Reina, Gascoyne, Randy D., Gastier-Foster, Julie, Gaudet, Mia M., Gaziano, J. Michael, Giffen, Carol, Giles, Graham G., Giovannucci, Edward, Glimelius, Bengt, Goggins, Michael, Gokgoz, Nalan, Goldstein, Alisa M., Gorlick, Richard, Gross, Myron, Grubb, Robert, III, Gu, Jian, Guan, Peng, Gunter, Marc, Guo, Huan, Habermann, Thomas M., Haiman, Christopher A., Halai, Dina, Hallmans, Goran, Hassan, Manal, Hattinger, Claudia, He, Qincheng, He, Xingzhou, Helzlsouer, Kathy, Henderson, Brian, Henriksson, Roger, Hjalgrim, Henrik, Hoffman-Bolton, Judith, Hohensee, Chancellor, Holford, Theodore R., Holly, Elizabeth A., Hong, Yun-Chul, Hoover, Robert N., Horn-Ross, Pamela L., Hosain, G. M. Monawar, Hosgood, H. Dean, III, Hsiao, Chin-Fu, Hu, Nan, Hu, Wei, Hu, Zhibin, Huang, Ming-Shyan, Huerta, Jose-Maria, Hung, Jen-Yu, Hutchinson, Amy, Inskip, Peter D., Jackson, Rebecca D., Jacobs, Eric J., Jenab, Mazda, Jeon, Hyo-Sung, Ji, Bu-Tian, Jin, Guangfu, Jin, Li, Johansen, Christoffer, Johnson, Alison, Jung, Yoo Jin, Kaaks, Rudolph, Kamineni, Aruna, Kane, Eleanor, Kang, Chang Hyun, Karagas, Margaret R., Kelly, Rachel S., Khaw, Kay-Tee, Kim, Christopher, Kim, Hee Nam, Kim, Jin Hee, Kim, Jun Suk, Kim, Yeul Hong, Kim, Young Tae, Kim, Young-Chul, Kitahara, Cari M., Klein, Alison P., Klein, Robert J., Kogevinas, Manolis, Kohno, Takashi, Kolonel, Laurence N., Kooperberg, Charles, Kricker, Anne, Krogh, Vittorio, Kunitoh, Hideo, Kurtz, Robert C., Kweon, Sun-Seog, LaCroix, Andrea, Lawrence, Charles, Lecanda, Fernando, Lee, Victor Ho Fun, Li, Donghui, Li, Haixin, Li, Jihua, Li, Yao-Jen, Li, Yuqing, Liao, Linda M., Liebow, Mark, Lightfoot, Tracy, Lim, Wei-Yen, Lin, Chien-Chung, Lin, Dongxin, Lindstrom, Sara, Linet, Martha S., Link, Brian K., Liu, Chenwei, Liu, Jianjun, Liu, Li, Ljungberg, Börje, Lloreta, Josep, Lollo, Simonetta Di, Lu, Daru, Lund, Eiluv, Malats, Nuria, Mannisto, Satu, Marchand, Loic Le, Marina, Neyssa, Masala, Giovanna, Mastrangelo, Giuseppe, Matsuo, Keitaro, Maynadie, Marc, McKay, James, McKean-Cowdin, Roberta, Melbye, Mads, Melin, Beatrice S., Michaud, Dominique S., Mitsudomi, Tetsuya, Monnereau, Alain, Montalvan, Rebecca, Moore, Lee E., Mortensen, Lotte Maxild, Nieters, Alexandra, North, Kari E., Novak, Anne J., Oberg, Ann L., Offit, Kenneth, Oh, In-Jae, Olson, Sara H., Palli, Domenico, Pao, William, Park, In Kyu, Park, Jae Yong, Park, Kyong Hwa, Patiño-Garcia, Ana, Pavanello, Sofia, Peeters, Petra H. M., Perng, Reury-Perng, Peters, Ulrike, Petersen, Gloria M., Picci, Piero, Pike, Malcolm C., Porru, Stefano, Prescott, Jennifer, Prokunina-Olsson, Ludmila, Qian, Biyun, Qiao, You-Lin, Rais, Marco, Riboli, Elio, Riby, Jacques, Risch, Harvey A., Rizzato, Cosmeri, Rodabough, Rebecca, Roman, Eve, Roupret, Morgan, Ruder, Avima M., Sanjose, Silvia de, Scelo, Ghislaine, Schned, Alan, Schumacher, Fredrick, Schwartz, Kendra, Schwenn, Molly, Scotlandi, Katia, Seow, Adeline, Serra, Consol, Serra, Massimo, Sesso, Howard D., Setiawan, Veronica Wendy, Severi, Gianluca, Severson, Richard K., Shanafelt, Tait D., Shen, Hongbing, Shen, Wei, Shin, Min-Ho, Shiraishi, Kouya, Shu, Xiao-Ou, Siddiq, Afshan, Sierrasesúmaga, Luis, Sihoe, Alan Dart Loon, Skibola, Christine F., Smith, Alex, Smith, Martyn T., Southey, Melissa C., Spinelli, John J., Staines, Anthony, Stampfer, Meir, Stern, Marianna C., Stevens, Victoria L., Stolzenberg-Solomon, Rachael S., Su, Jian, Su, Wu-Chou, Sund, Malin, Sung, Jae Sook, Sung, Sook Whan, Tan, Wen, Tang, Wei, Tardón, Adonina, Thomas, David, Thompson, Carrie A., Tinker, Lesley F., Tirabosco, Roberto, Tjønneland, Anne, Travis, Ruth C., Trichopoulos, Dimitrios, Tsai, Fang-Yu, Tsai, Ying-Huang, Tucker, Margaret, Turner, Jenny, Vajdic, Claire M., Vermeulen, Roel C. H., Villano, Danylo J., Vineis, Paolo, Virtamo, Jarmo, Visvanathan, Kala, Wactawski-Wende, Jean, Wang, Chaoyu, Wang, Chih-Liang, Wang, Jiu-Cun, Wang, Junwen, Wei, Fusheng, Weiderpass, Elisabete, Weiner, George J., Weinstein, Stephanie, Wentzensen, Nicolas, White, Emily, Witzig, Thomas E., Wolpin, Brian M., Wong, Maria Pik, Wu, Chen, Wu, Guoping, Wu, Junjie, Wu, Tangchun, Wu, Wei, Wu, Xifeng, Wu, Yi-Long, Wunder, Jay S., Xiang, Yong-Bing, Xu, Jun, Xu, Ping, Yang, Pan-Chyr, Yang, Tsung-Ying, Ye, Yuanqing, Yin, Zhihua, Yokota, Jun, Yoon, Ho-Il, Yu, Chong-Jen, Yu, Herbert, Yu, Kai, Yuan, Jian-Min, Zelenetz, Andrew, Zeleniuch-Jacquotte, Anne, Zhang, Xu-Chao, Zhang, Yawei, Zhao, Xueying, Zhao, Zhenhong, Zheng, Hong, Zheng, Tongzhang, Zheng, Wei, Zhou, Baosen, Zhu, Meng, Zucca, Mariagrazia, Boca, Simina M., Cerhan, James R., Ferri, Giovanni M., Hartge, Patricia, Hsiung, Chao Agnes, Magnani, Corrado, Miligi, Lucia, Morton, Lindsay M., Smedby, Karin E., Teras, Lauren R., Vijai, Joseph, Wang, Sophia S., Brennan, Paul, Caporaso, Neil E., Hunter, David J., Kraft, Peter, Rothman, Nathaniel, Silverman, Debra T., Slager, Susan L., Chanock, Stephen J., and Chatterjee, Nilanjan

Published
2015
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45. Proof-of-Concept for Liquid Biopsy Disease Monitoring of MYC -Amplified Group 3 Medulloblastoma by Droplet Digital PCR.

Author

Stepien, Natalia, Senfter, Daniel, Furtner, Julia, Haberler, Christine, Dorfer, Christian, Czech, Thomas, Lötsch-Gojo, Daniela, Mayr, Lisa, Hedrich, Cora, Baumgartner, Alicia, Aliotti-Lippolis, Maria, Schned, Hannah, Holler, Johannes, Bruckner, Katharina, Slavc, Irene, Azizi, Amedeo A., Peyrl, Andreas, Müllauer, Leonhard, Madlener, Sibylle, and Gojo, Johannes

Subjects
PUBLIC health surveillance, DISEASE progression, GLIOMAS, FLUORESCENCE in situ hybridization, RESEARCH funding, BODY fluid examination, POLYMERASE chain reaction, SENSITIVITY & specificity (Statistics), DATA analysis software, LONGITUDINAL method
Abstract

Simple Summary: MYC is a well-described oncogene across multiple cancer types. In medulloblastoma (MB), significance is subtype-dependent and associated with a particularly dismal outcome in MYC-amplified group 3 MBs. In our study, we established a highly sensitive and specific method for the detection of MYC amplification in cerebrospinal fluid (CSF) enabling its use as a liquid biopsy biomarker. We show preliminary results of its potential as a marker for early diagnosis, disease staging and monitoring. The fast and cost-effective method could substantially improve means of diagnosis and therapy monitoring in high-risk MBs. Background: Liquid biopsy diagnostic methods are an emerging complementary tool to imaging and pathology techniques across various cancer types. However, there is still no established method for the detection of molecular alterations and disease monitoring in MB, the most common malignant CNS tumor in the pediatric population. In the presented study, we investigated droplet digital polymerase chain reaction (ddPCR) as a highly sensitive method for the detection of MYC amplification in bodily fluids of group 3 MB patients. Methods: We identified a cohort of five MYC-amplified MBs by methylation array and FISH. Predesigned and wet-lab validated probes for ddPCR were used to establish the detection method and were validated in two MYC-amplified MB cell lines as well as tumor tissue of the MYC-amplified cohort. Finally, a total of 49 longitudinal CSF samples were analyzed at multiple timepoints during the course of the disease. Results: Detection of MYC amplification by ddPCR in CSF showed a sensitivity and specificity of 90% and 100%, respectively. We observed a steep increase in amplification rate (AR) at disease progression in 3/5 cases. ddPCR was proven to be more sensitive than cytology for the detection of residual disease. In contrast to CSF, MYC amplification was not detectable by ddPCR in blood samples. Conclusions: ddPCR proves to be a sensitive and specific method for the detection of MYC amplification in the CSF of MB patients. These results warrant implementation of liquid biopsy in future prospective clinical trials to validate the potential for improved diagnosis, disease staging and monitoring. [ABSTRACT FROM AUTHOR]

Published
2023
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46. Common genetic variants in the PSCA gene influence gene expression and bladder cancer risk

Author

Fu, Yi-Ping, Kohaar, Indu, Rothman, Nathaniel, Earl, Julie, Figueroa, Jonine D., Ye, Yuanqing, Malats, Núria, Tang, Wei, Liu, Luyang, Garcia-Closas, Montserrat, Muchmore, Brian, Chatterjee, Nilanjan, Tarway, McAnthony, Kogevinas, Manolis, Porter-Gill, Patricia, Baris, Dalsu, Mumy, Adam, Albanes, Demetrius, Purdue, Mark P., Hutchinson, Amy, Carrato, Alfredo, Tardón, Adonina, Serra, Consol, García-Closas, Reina, Lloreta, Josep, Johnson, Alison, Schwenn, Molly, Karagas, Margaret R., Schned, Alan, Diver, W. Ryan, Gapstur, Susan M., Thun, Michael J., Virtamo, Jarmo, Chanock, Stephen J., Fraumeni,, Joseph F., Silverman, Debra T., Wu, Xifeng, Real, Francisco X., and Prokunina-Olsson, Ludmila

Published
2012

50. Identification of Let-7f-5p as a novel biomarker of recurrence in non-muscle invasive bladder cancer

Author

Margaret R. Karagas, Jason R. Pettus, John W Hinds, David A. Armstrong, Angeline S. Andrew, Carmen J. Marsit, John D. Seigne, Kevin Shee, Todd W. Miller, and Alan R. Schned

Subjects
Male, Oncology, Cancer Research, medicine.medical_specialty, LIN28, 03 medical and health sciences, 0302 clinical medicine, Cell Movement, Internal medicine, microRNA, Biomarkers, Tumor, Genetics, medicine, Humans, Neoplasm Invasiveness, Biomarker discovery, Cell Proliferation, 030304 developmental biology, 0303 health sciences, Bladder cancer, medicine.diagnostic_test, business.industry, RNA-Binding Proteins, General Medicine, Cystoscopy, Middle Aged, Prognosis, medicine.disease, Phenotype, Gene Expression Regulation, Neoplastic, MicroRNAs, Urinary Bladder Neoplasms, 030220 oncology & carcinogenesis, Biomarker (medicine), Female, Neoplasm Recurrence, Local, Non muscle invasive, business
Abstract

BACKGROUND: Among patients diagnosed with non-muscle invasive bladder cancer (NMIBC), 30% to 70% experience recurrences within 6 to 12 years of diagnosis. The need to screen for these events every 3 to 6 months and ultimately annually by cystoscopy makes bladder cancer one of the most expensive malignancies to manage. OBJECTIVE: The purpose of this study was to identify reproducible prognostic microRNAs in resected non-muscle invasive bladder tumor tissue that are predictive of the recurrent tumor phenotype as potential biomarkers and molecular therapeutic targets. METHODS: Two independent cohorts of NMIBC patients were analyzed using a biomarker discovery and validation approach, respectively. RESULTS: miRNA Let-7f-5p showed the strongest association with recurrence across both cohorts. Let-7f-5p levels in urine and plasma were both found to be significantly correlated with levels in tumor tissue. We assessed the therapeutic potential of targeting Lin28, a negative regulator of Let-7f-5p, with small-molecule inhibitor C1632. Lin28 inhibition significantly increased levels of Let-7f-5p expression and led to significant inhibition of viability and migration of HTB-2 cells. CONCLUSIONS: We have identified Let-7f-5p as a miRNA biomarker of recurrence in NMIBC tumors. We further demonstrate that targeting Lin28, a negative regulator of Let-7f-5p, represents a novel potential therapeutic opportunity in NMIBC.

Published
2020

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