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1. DNA methylation‐array interlaboratory comparison trial demonstrates highly reproducible paediatric CNS tumour classification across 13 international centres.

Author

Chirica, Mihaela, Jurmeister, Philipp, Teichmann, Daniel, Koch, Arend, Perez, Eilís, Schmid, Simone, Simon, Michèle, Driever, Pablo Hernáiz, Bodden, Carina, van Tilburg, Cornelis M., Hardin, Emily C., Lavarino, Cinzia, Hench, Jürgen, Scheie, David, Cryan, Jane, Vicha, Ales, Buttarelli, Francesca R., Michiels, An, Haberler, Christine, and Barahona, Paulette

Subjects
DNA methylation, BRAIN tumors, DNA analysis, BANKING industry, DNA sequencing
Abstract

Aims: DNA methylation profiling, recently endorsed by the World Health Organisation (WHO) as a pivotal diagnostic tool for brain tumours, most commonly relies on bead arrays. Despite its widespread use, limited data exist on the technical reproducibility and potential cross‐institutional differences. The LOGGIC Core BioClinical Data Bank registry conducted a prospective laboratory comparison trial with 12 international laboratories to enhance diagnostic accuracy for paediatric low‐grade gliomas, focusing on technical aspects of DNA methylation data generation and profile interpretation under clinical real‐time conditions. Methods: Four representative low‐grade gliomas of distinct histologies were centrally selected, and DNA extraction was performed. Participating laboratories received a DNA aliquot and performed the DNA methylation‐based classification and result interpretation without knowledge of tumour histology. Additionally, participants were required to interpret the copy number profile derived from DNA methylation data and conduct DNA sequencing of the BRAF hotspot p.V600 due to its relevance for low‐grade gliomas. Results had to be returned within 30 days. Results: High technical reproducibility was observed, with a median pairwise correlation of 0.99 (range 0.94–0.99) between coordinating laboratory and participants. DNA methylation‐based tumour classification and copy number profile interpretation were consistent across all centres, and BRAF mutation status was accurately reported for all cases. Eleven out of 12 centres successfully reported their analysis within the 30‐day timeframe. Conclusion: Our study demonstrates remarkable concordance in DNA methylation profiling and profile interpretation across 12 international centres. These findings underscore the potential contribution of DNA methylation analysis to the harmonisation of brain tumour diagnostics. [ABSTRACT FROM AUTHOR]

Published
2024
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2. Therapeutic Impact of Cytoreductive Surgery and Irradiation of Posterior Fossa Ependymoma in the Molecular Era: A Retrospective Multicohort Analysis.

Author

Ramaswamy, Vijay, Hielscher, Thomas, Mack, Stephen C, Lassaletta, Alvaro, Lin, Tong, Pajtler, Kristian W, Jones, David TW, Luu, Betty, Cavalli, Florence MG, Aldape, Kenneth, Remke, Marc, Mynarek, Martin, Rutkowski, Stefan, Gururangan, Sridharan, McLendon, Roger E, Lipp, Eric S, Dunham, Christopher, Hukin, Juliette, Eisenstat, David D, Fulton, Dorcas, van Landeghem, Frank KH, Santi, Mariarita, van Veelen, Marie-Lise C, Van Meir, Erwin G, Osuka, Satoru, Fan, Xing, Muraszko, Karin M, Tirapelli, Daniela PC, Oba-Shinjo, Sueli M, Marie, Suely KN, Carlotti, Carlos G, Lee, Ji Yeoun, Rao, Amulya A Nageswara, Giannini, Caterina, Faria, Claudia C, Nunes, Sofia, Mora, Jaume, Hamilton, Ronald L, Hauser, Peter, Jabado, Nada, Petrecca, Kevin, Jung, Shin, Massimi, Luca, Zollo, Massimo, Cinalli, Giuseppe, Bognár, László, Klekner, Almos, Hortobágyi, Tibor, Leary, Sarah, Ermoian, Ralph P, Olson, James M, Leonard, Jeffrey R, Gardner, Corrine, Grajkowska, Wieslawa A, Chambless, Lola B, Cain, Jason, Eberhart, Charles G, Ahsan, Sama, Massimino, Maura, Giangaspero, Felice, Buttarelli, Francesca R, Packer, Roger J, Emery, Lyndsey, Yong, William H, Soto, Horacio, Liau, Linda M, Everson, Richard, Grossbach, Andrew, Shalaby, Tarek, Grotzer, Michael, Karajannis, Matthias A, Zagzag, David, Wheeler, Helen, von Hoff, Katja, Alonso, Marta M, Tuñon, Teresa, Schüller, Ulrich, Zitterbart, Karel, Sterba, Jaroslav, Chan, Jennifer A, Guzman, Miguel, Elbabaa, Samer K, Colman, Howard, Dhall, Girish, Fisher, Paul G, Fouladi, Maryam, Gajjar, Amar, Goldman, Stewart, Hwang, Eugene, Kool, Marcel, Ladha, Harshad, Vera-Bolanos, Elizabeth, Wani, Khalida, Lieberman, Frank, Mikkelsen, Tom, Omuro, Antonio M, Pollack, Ian F, Prados, Michael, Robins, H Ian, and Soffietti, Riccardo

Subjects
Humans, Ependymoma, Infratentorial Neoplasms, Combined Modality Therapy, Retrospective Studies, Cohort Studies, Adolescent, Adult, Child, Child, Preschool, Infant, Female, Male, Cytoreduction Surgical Procedures, Rare Diseases, Pediatric Cancer, Cancer, Pediatric, Patient Safety, Clinical Sciences, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

PurposePosterior fossa ependymoma comprises two distinct molecular variants termed EPN_PFA and EPN_PFB that have a distinct biology and natural history. The therapeutic value of cytoreductive surgery and radiation therapy for posterior fossa ependymoma after accounting for molecular subgroup is not known.MethodsFour independent nonoverlapping retrospective cohorts of posterior fossa ependymomas (n = 820) were profiled using genome-wide methylation arrays. Risk stratification models were designed based on known clinical and newly described molecular biomarkers identified by multivariable Cox proportional hazards analyses.ResultsMolecular subgroup is a powerful independent predictor of outcome even when accounting for age or treatment regimen. Incompletely resected EPN_PFA ependymomas have a dismal prognosis, with a 5-year progression-free survival ranging from 26.1% to 56.8% across all four cohorts. Although first-line (adjuvant) radiation is clearly beneficial for completely resected EPN_PFA, a substantial proportion of patients with EPN_PFB can be cured with surgery alone, and patients with relapsed EPN_PFB can often be treated successfully with delayed external-beam irradiation.ConclusionThe most impactful biomarker for posterior fossa ependymoma is molecular subgroup affiliation, independent of other demographic or treatment variables. However, both EPN_PFA and EPN_PFB still benefit from increased extent of resection, with the survival rates being particularly poor for subtotally resected EPN_PFA, even with adjuvant radiation therapy. Patients with EPN_PFB who undergo gross total resection are at lower risk for relapse and should be considered for inclusion in a randomized clinical trial of observation alone with radiation reserved for those who experience recurrence.

Published
2016

6. Optimizing biomarkers for accurate ependymoma diagnosis, prognostication, and stratification within International Clinical Trials: A BIOMECA study.

Author

Chapman, Rebecca J, Ghasemi, David R, Andreiuolo, Felipe, Zschernack, Valentina, Espariat, Arnault Tauziede, Buttarelli, Francesca R, Giangaspero, Felice, Grill, Jacques, Haberler, Christine, Paine, Simon M L, Scott, Ian, Jacques, Thomas S, Sill, Martin, Pfister, Stefan, Kilday, John-Paul, Leblond, Pierre, Massimino, Maura, Witt, Hendrik, Modena, Piergiorgio, and Varlet, Pascale

Published
2023
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8. DIPG-04. Feasibility and early results of phase 2 open label randomized study of radiotherapy(RT), concomitant nimotuzumab and vinorelbine and re-irradiation at relapse, versus multiple elective radiotherapy courses with concomitant vinorelbine and nimotuzumab for newly diagnosed childhood and adolescence Diffuse intrinsic Pontine Glioma (DIPG)

Author

Massimino, Maura, primary, Biassoni, veronica, additional, Mastronuzzi, Angela, additional, Schiavello, Elisabetta, additional, Barretta, Francesco, additional, Quaglietta, Lucia, additional, Milanaccio, Claudia, additional, Pecori, Emilia, additional, Cacchione, Antonella, additional, Boschetti, Luna, additional, Ruscio, Valentina Di, additional, Chiesa, Silvia, additional, Scimone, Giuseppe, additional, Barra, Salvina, additional, De Martino, Lucia, additional, Ramaglia, Antonia, additional, Picariello, Stefania, additional, Verrico, Antonio, additional, Alessandro, Ombretta, additional, Vennarini, Sabina, additional, Podda, Marta, additional, Gattuso, Giovanna, additional, Cinalli, Giuseppe, additional, Antonelli, Manila, additional, Modena, Piergiorgio, additional, De Cecco, Loris, additional, Buttarelli, Francesca R, additional, and Gandola, Lorenza, additional

Published
2022
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14. Correlation Between Immunohistochemistry and Sequencing in H3G34-Mutant Gliomas

Author

Gianno, Francesca, primary, Antonelli, Manila, additional, Di Dio, Tiziano, additional, Minasi, Simone, additional, Donofrio, Vittoria, additional, Buccoliero, Anna M., additional, Gardiman, Marina P., additional, Pollo, Bianca, additional, Diomedi Camassei, Francesca, additional, Rossi, Sabrina, additional, Novello, Mariangela, additional, Giangaspero, Felice, additional, Arcella, Antonietta, additional, Gessi, Marco, additional, and Buttarelli, Francesca R., additional

Published
2020
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15. Immunohistochemical Characterization of Immune Infiltrate in Tumor Microenvironment of Glioblastoma

Author

Rahimi Koshkaki, Hassan, primary, Minasi, Simone, additional, Ugolini, Alessio, additional, Trevisi, Gianluca, additional, Napoletano, Chiara, additional, Zizzari, Ilaria G., additional, Gessi, Marco, additional, Giangaspero, Felice, additional, Mangiola, Annunziato, additional, Nuti, Marianna, additional, Buttarelli, Francesca R., additional, and Rughetti, Aurelia, additional

Published
2020
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20. HG-11BRAF V600E MUTATION IN PEDIATRIC ASTROBLASTOMAS

Author

Antonelli, Manila, primary, Nizza, Paolo, additional, Gardiman, Marina P., additional, Buttarelli, Francesca R., additional, Cerati, Michele, additional, Milanaccio, Claudia, additional, Coli, Antonella, additional, Massimino, Maura, additional, Pollo, Bianca, additional, Moi, Loredana, additional, Badiali, Manuela, additional, and Giangaspero, Felice, additional

Published
2016
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21. HG-56HISTONE K27M MUTATION IN A SERIES OF CENTRALLY REVIEWED DIFFUSE INTRINSIC PONTINE GLIOMA (DIPG): CONSISTENCY WITH MRI FEATURES

Author

Antonelli, Manila, primary, Modena, Piergiorgio, additional, Biassoni, Veronica, additional, Schiavello, Elisabetta, additional, Gandola, Lorenza, additional, Warmuth-Metz, Monika, additional, Pollo, Bianca, additional, Buttarelli, Francesca R., additional, Giagnacovo, Marzia, additional, Berni, Silvia, additional, Giangaspero, Felice, additional, and Massimino, Maura, additional

Published
2016
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22. Final results of the second prospective AIEOP protocol for pediatric intracranial ependymoma

Author

Massimino, Maura, primary, Miceli, Rosalba, additional, Giangaspero, Felice, additional, Boschetti, Luna, additional, Modena, Piergiorgio, additional, Antonelli, Manila, additional, Ferroli, Paolo, additional, Bertin, Daniele, additional, Pecori, Emilia, additional, Valentini, Laura, additional, Biassoni, Veronica, additional, Garrè, Maria Luisa, additional, Schiavello, Elisabetta, additional, Sardi, Iacopo, additional, Cama, Armando, additional, Viscardi, Elisabetta, additional, Scarzello, Giovanni, additional, Scoccianti, Silvia, additional, Mascarin, Maurizio, additional, Quaglietta, Lucia, additional, Cinalli, Giuseppe, additional, Diletto, Barbara, additional, Genitori, Lorenzo, additional, Peretta, Paola, additional, Mussano, Anna, additional, Buccoliero, Annamaria, additional, Calareso, Giuseppina, additional, Barra, Salvina, additional, Mastronuzzi, Angela, additional, Giussani, Carlo, additional, Marras, Carlo Efisio, additional, Balter, Rita, additional, Bertolini, Patrizia, additional, Giombelli, Ermanno, additional, La Spina, Milena, additional, Buttarelli, Francesca R., additional, Pollo, Bianca, additional, and Gandola, Lorenza, additional

Published
2016
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23. Role of Immunohistochemistry in the Identification of Supratentorial C11ORF95-RELAFused Ependymoma in Routine Neuropathology

Author

Gessi, Marco, Giagnacovo, Marzia, Modena, Piergiorgio, Elefante, Grazia, Gianno, Francesca, Buttarelli, Francesca R., Arcella, Antonietta, Donofrio, Vittoria, Diomedi Camassei, Francesca, Nozza, Paolo, Morra, Isabella, Massimino, Maura, Pollo, Bianca, Giangaspero, Felice, and Antonelli, Manila

Abstract

Ependymomas (EPs) are tumors of the brain and spinal cord constituting ∼10% of the childhood central nervous system neoplasms and about 30% in children aged <3 years. Their anatomic distribution varies according to the age, with those arising in the supratentorial (ST) compartment, spinal cord being more common in older children and adults, and those at the infratentorial location are more common and occurring more frequently in infants and children. Recently, molecular classification of EP subgroups has been proposed and a supratentorial ependymoma subgroup characterized by RELA-fusion genes (ST-EP-RELA) has been established. It would be useful to define a standardized, robust method for the diagnosis of these relevant fusion genes. We used real-time polymerase chain reaction, conventional real-time polymerase chain reaction, and Sanger sequencing to characterize RELA fusion status in formalin-fixed paraffin-embedded samples from 42 ST-EPs (12 adults and 30 pediatric). We tested p65/RELA and L1CAM protein immunohistochemistry for their ability to predict RELA-fusion status. We reviewed clinical data to assess significant associations in this anatomic subgroup. Of the 42 patients, we identified RELA-fusion genes in 17 cases. L1CAM immunostaining displayed 94% sensitivity, 76% specificity, 73% positive predictive value (PPV), 95% negative predictive value (NPV). The p65/RELA immunostaining displayed 100% sensitivity, 92% specificity, 89.5% PPV, 100% NPV. Concordant double immunostaining improves PPV to 92.5% and maintains 100% NPV. Immunohistochemistry using both p65/RELA and L1CAM antibodies is valuable for ST-EP-RELA diagnosis: the negativity with both antibodies consistently predicts the absence of RELA fusions, whereas verification of fusion transcripts by molecular analyses is warranted only in single-positive or double-positive staining cases.

Published
2019
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24. Genetic Analysis of Diffuse High-Grade Astrocytomas in Infancy Defines a Novel Molecular Entity

Author

Gielen, Gerrit H., primary, Gessi, Marco, additional, Buttarelli, Francesca R., additional, Baldi, Caterina, additional, Hammes, Jennifer, additional, zur Muehlen, Anja, additional, Doerner, Evelyn, additional, Denkhaus, Dorota, additional, Warmuth-Metz, Monika, additional, Giangaspero, Felice, additional, Lauriola, Libero, additional, von Bueren, André O., additional, Kramm, Christof M., additional, Waha, Andreas, additional, and Pietsch, Torsten, additional

Published
2014
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26. Predictors of outcome in an AIEOP series of childhood ependymomas: a multifactorial analysis

Author

Modena, Piergiorgio, primary, Buttarelli, Francesca R., additional, Miceli, Rosalba, additional, Piccinin, Elena, additional, Baldi, Caterina, additional, Antonelli, Manila, additional, Morra, Isabella, additional, Lauriola, Libero, additional, Di Rocco, Concezio, additional, Garrè, Maria Luisa, additional, Sardi, Iacopo, additional, Genitori, Lorenzo, additional, Maestro, Roberta, additional, Gandola, Lorenza, additional, Facchinetti, Federica, additional, Collini, Paola, additional, Sozzi, Gabriella, additional, Giangaspero, Felice, additional, and Massimino, Maura, additional

Published
2012
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35. Intracranial ependymoma: factors affecting outcome.

Author

Massimo, Maura, Buttarelli, Francesca R., Antonelli, Manila, Gandola, Lorenza, Modena, Piergiorgio, and Giangaspero, Felice

Abstract

Ependymomas account for 2-9% of all neuroepithelial tumors, amounting to 6-12% of all intracranial tumors in children and up to 30% of those in children younger than 3 years. Recent findings provide evidence that intracranial and spinal ependymomas share similar molecular profiles with the radial glia of their corresponding locations. The management of intracranial ependymoma is still not optimal. The 5-year progression-free survival for children with ependymoma ranges between 30 and 50% with a worse prognosis for patients with residual disease after surgery. The prognostic relevance of most factors are still being debated. Recent studies, in which the current WHO classification criteria were applied, reported the relationship between histological grade and outcome. Biomolecular studies have identified that gain of lq25 and EGFR overexpression correlate to poor prognosis, whereas low expression of nucleolin correlated with a favorable outcome. Ependymomas have been considered a 'surgical disease', where completeness of excision can be reached in approximately half of the cases. At present the standard treatment is radiation therapy for all patients after gross total or near-total resection. For high risk patients, with residual tumor, an interesting, although experimental, approach could be chemotherapy followed by secondary surgery and postoperative conformal irradiation. [ABSTRACT FROM AUTHOR]

Published
2009
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37. Therapeutic Impact of Cytoreductive Surgery and Irradiation of Posterior Fossa Ependymoma in the Molecular Era: A Retrospective Multicohort Analysis

Author

Cain, Jason, Ahsan, Sama, Van Meir, Erwin G., Guzman, Miguel, Rao, Amulya A. Nageswara, Tabori, Uri, Giannini, Caterina, Metellus, Phillipe, Soto, Horacio, Dirks, Peter, Wheeler, Helen, Colman, Howard, Merchant, Thomas E., Pfister, Stefan M., Kool, Marcel, Soffietti, Riccardo, Alonso, Marta M., Fouladi, Maryam, Giangaspero, Felice, Oba-Shinjo, Sueli M., Ramaswamy, Vijay, Shalaby, Tarek, Faria, Claudia C., Bartels, Ute, Hortobágyi, Tibor, Tirapelli, Daniela P.C., Yong, William H., Pajtler, Kristian W., Chambless, Lola B., Korshunov, Andrey, Wani, Khalida, Luu, Betty, Lassaletta, Alvaro, Massimi, Luca, Lin, Tong, Vera-Bolanos, Elizabeth, Goldman, Stewart, Dhall, Girish, Ladha, Harshad, Massimino, Maura, Liau, Linda M., Fan, Xing, Ellison, David W., Jones, David T.W., Aldape, Kenneth, McLendon, Roger E., Emery, Lyndsey, Chan, Jennifer A., Gardner, Corrine, Olson, James M., Gururangan, Sridharan, Fulton, Dorcas, Zagzag, David, Hamilton, Ronald L., Robins, H. Ian, Grossbach, Andrew, Eisenstat, David D., Omuro, Antonio M., Lipp, Eric S., Packer, Roger J., Gilbert, Mark R., Schüller, Ulrich, Zitterbart, Karel, Jung, Shin, Tuñon, Teresa, Dunham, Christopher, Mack, Stephen C., Cavalli, Florence M.G., Mynarek, Martin, Ermoian, Ralph P., Leary, Sarah, Hawkins, Cynthia E., Armstrong, Terri S., Osuka, Satoru, Carlotti, Carlos G., Klekner, Almos, Leonard, Jeffrey R., Hauser, Peter, Zollo, Massimo, Marie, Suely K.N., Van Veelen, Marie-Lise C., Bouffet, Eric, Rutka, James T., Sterba, Jaroslav, Mora, Jaume, Grotzer, Michael, Fisher, Paul G., Cinalli, Giuseppe, Nunes, Sofia, Lieberman, Frank, Hukin, Juliette, Everson, Richard, Pollack, Ian F., Grajkowska, Wieslawa A., Santi, Mariarita, Lee, Ji Yeoun, Elbabaa, Samer K., Taylor, Michael D., Remke, Marc, Mikkelsen, Tom, Van Landeghem, Frank K.H., Karajannis, Matthias A., Hwang, Eugene, Rutkowski, Stefan, Von Hoff, Katja, Eberhart, Charles G., Muraszko, Karin M., Prados, Michael, Bognár, László, Jabado, Nada, Gajjar, Amar, Buttarelli, Francesca R., Hielscher, Thomas, Wu, Jing, and Petrecca, Kevin

Subjects
10. No inequality, 3. Good health
Abstract

Posterior fossa ependymoma comprises two distinct molecular variants termed EPN_PFA and EPN_PFB that have a distinct biology and natural history. The therapeutic value of cytoreductive surgery and radiation therapy for posterior fossa ependymoma after accounting for molecular subgroup is not known.

39. Organization and nucleotide sequence of the genes for ribosomal protein S2 and elongation factor Ts in Spirulina Platensis

Author

Sanangelantoni, Anna Maria, Calogero, Raffaele C., Buttarelli, Francesca R., Gualerzi, Claudio O., and Tiboni, Orsola

Abstract

A 6.5 kb region from the genome of the cyanobacterium Spirulina platensis was cloned using as a probe the Escherichia coli gene for ribosomal protein S2. Sequence analysis revealed, in this region, the presence of the gene for ribosomal protein S2 and part of the gene for the elongation factor Ts (EF-Ts). The arrangement rpsB-spacer-tsf resembles that reported for E. coli. The deduced amino acid sequences of the platensis S2 and EF-Ts show significant homology with the E. coli counterparts.

Published
1990
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40. The dopaminergic system in peripheral blood lymphocytes: from physiology to pharmacology and potential applications to neuropsychiatric disorders.

Author

Buttarelli FR, Fanciulli A, Pellicano C, and Pontieri FE

Abstract

Besides its action on the nervous system, dopamine (DA) plays a role on neural-immune interactions. Here we review the current evidence on the dopaminergic system in human peripheral blood lymphocytes (PBL). PBL synthesize DA through the tyrosine-hydroxylase/DOPA-decarboxylase pathway, and express DA receptors and DA transporter (DAT) on their plasma membrane. Stimulation of DA receptors on PBL membrane contributes to modulate the development and initiation of immune responses under physiological conditions and in immune system pathologies such as autoimmunity or immunodeficiency.The characterization of DA system in PBL gave rise to a further line of research investigating the feasibility of PBL as a cellular model for studying DA derangement in neuropsychiatric disorders. Several reports showed changes of the expression of DAT and/or DA receptors in PBL from patients suffering from several neuropsychiatric disorders, in particular parkinsonian syndromes, schizophrenia and drug- or alcohol-abuse. Despite some methodological and theoretical limitations, these findings suggest that PBL may prove a cellular tool with which to identify the derangement of DA transmission in neuropsychiatric diseases, as well as to monitor the effects of pharmacological treatments.

Published
2011
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