3 results on '"Gautiero, Eugenio"'
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2. Genomic and Epigenomic Profile of Uterine Smooth Muscle Tumors of Uncertain Malignant Potential (STUMPs) Revealed Similarities and Differences with Leiomyomas and Leiomyosarcomas.
- Author
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Conconi, Donatella, Redaelli, Serena, Lissoni, Andrea Alberto, Cilibrasi, Chiara, Perego, Patrizia, Gautiero, Eugenio, Sala, Elena, Paderno, Mariachiara, Dalprà, Leda, Landoni, Fabio, Lavitrano, Marialuisa, Roversi, Gaia, Bentivegna, Angela, Chen, Yue, and De Franciscis, Pasquale
- Subjects
SMOOTH muscle tumors ,MYOMETRIUM ,LEIOMYOSARCOMA ,PROGNOSIS ,EPIGENOMICS ,CANCER genes - Abstract
Uterine smooth muscle tumors of uncertain malignant potential (STUMPs) represent a heterogeneous group of tumors that cannot be histologically diagnosed as unequivocally benign or malignant. For this reason, many authors are working to obtain a better definition of diagnostic and prognostic criteria. In this work, we analyzed the genomic and epigenomic profile of uterine smooth muscle tumors (USMTs) in order to find similarities and differences between STUMPs, leiomyosarcomas (LMSs) and leiomyomas (LMs), and possibly identify prognostic factors in this group of tumors. Array-CGH data on 23 USMTs demonstrated the presence of a more similar genomic profile between STUMPs and LMSs. Some genes, such as PRKDC and PUM2, with a potential prognostic value, were never previously associated with STUMP. The methylation data appears to be very promising, especially with regards to the divergent profile found in the sample that relapsed, characterized by an overall CGI hypomethylation. Finally, the Gene Ontology analysis highlighted some cancer genes that could play a pivotal role in the unexpected aggressive behavior that can be found in some of these tumors. These genes could prove to be prognostic markers in the future. [ABSTRACT FROM AUTHOR]
- Published
- 2021
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3. Reference standards for gene fusion molecular assays on cytological samples: an international validation study
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Elena Vigliar, Eugenio Gautiero, Annalisa Altimari, Reinhard Büttner, Birgit Weynand, Carlos E. de Andrea, Philippe Vielh, Francesco Pepe, Claudio Bellevicine, Paul Hofman, Miguel Angel Molina Vila, Rossella Bruno, Fernando Schmitt, Véronique Hofman, Giancarlo Troncone, Francesc Tresserra, Luis Cirnes, Rafael Rosell, Ruth Román, Sabine Merkelbach-Bruse, David Gentien, Fabio Pagni, Dario de Biase, Catherine I. Dumur, Giulia Anna Carmen Vita, Kajsa Ericson Lindquist, Gabriella Fontanini, Sinchita Roy-Chowdhuri, Janna Siemanowski, Maria D. Lozano, Clara Mayo-de-las-Casas, Pasquale Pisapia, Sara Vander Borght, Antonino Iaccarino, Hans Brunnström, Umberto Malapelle, Giovanni Tallini, Malapelle, U, Pepe, F, Pisapia, P, Altimari, A, Bellevicine, C, Brunnström, H, Bruno, R, Büttner, R, Cirnes, L, De Andrea, C, de Biase, D, Dumur, C, Ericson Lindquist, K, Fontanini, G, Gautiero, E, Gentien, D, Hofman, P, Hofman, V, Iaccarino, A, Lozano, M, Mayo-de-Las-Casas, C, Merkelbach-Bruse, S, Pagni, F, Roman, R, Schmitt, F, Siemanowski, J, Roy-Chowdhuri, S, Tallini, G, Tresserra, F, Vander Borght, S, Vielh, P, Vigliar, E, Vita, G, Weynand, B, Rosell, R, Molina Vila, M, Troncone, G, Malapelle, Umberto, Pepe, Francesco, Pisapia, Pasquale, Altimari, Annalisa, Bellevicine, Claudio, Brunnström, Han, Bruno, Rossella, Büttner, Reinhard, Cirnes, Lui, De Andrea, Carlos E, de Biase, Dario, Dumur, Catherine I, Ericson Lindquist, Kajsa, Fontanini, Gabriella, Gautiero, Eugenio, Gentien, David, Hofman, Paul, Hofman, Veronique, Iaccarino, Antonino, Lozano, Maria Dolore, Mayo-de-Las-Casas, Clara, Merkelbach-Bruse, Sabine, Pagni, Fabio, Roman, Ruth, Schmitt, Fernando C, Siemanowski, Janna, Roy-Chowdhuri, Sinchita, Tallini, Giovanni, Tresserra, Francesc, Vander Borght, Sara, Vielh, Philippe, Vigliar, Elena, Vita, Giulia Anna Carmen, Weynand, Birgit, Rosell, Rafael, Molina Vila, Miguel Angel, and Troncone, Giancarlo
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Validation study ,Staining and Labeling ,Oncogene Proteins, Fusion ,May-Grunwald giemsa ,cytological techniques ,molecular ,molecular biology ,pathology ,Papanicolaou stain ,General Medicine ,Reference Standards ,Amplicon ,Biology ,Molecular biology ,Pathology and Forensic Medicine ,Staining ,Fusion gene ,Cytological Techniques ,Neoplasms ,Humans ,cytological technique ,Reference standards - Abstract
AimsGene fusions assays are key for personalised treatments of advanced human cancers. Their implementation on cytological material requires a preliminary validation that may make use of cell line slides mimicking cytological samples. In this international multi-institutional study, gene fusion reference standards were developed and validated.MethodsCell lines harbouringEML4(13)–ALK(20) andSLC34A2(4)–ROS1(32) gene fusions were adopted to prepare reference standards. Eight laboratories (five adopting amplicon-based and three hybridisation-based platforms) received, at different dilution points two sets of slides (slide A 50.0%, slide B 25.0%, slide C 12.5% and slide D wild type) stained by Papanicolaou (Pap) and May Grunwald Giemsa (MGG). Analysis was carried out on a total of 64 slides.ResultsFour (50.0%) out of eight laboratories reported results on all slides and dilution points. While 12 (37.5%) out of 32 MGG slides were inadequate, 27 (84.4%) out of 32 Pap slides produced libraries adequate for variant calling. The laboratories using hybridisation-based platforms showed the highest rate of inadequate results (13/24 slides, 54.2%). Conversely, only 10.0% (4/40 slides) of inadequate results were reported by laboratories adopting amplicon-based platforms.ConclusionsReference standards in cytological format yield better results when Pap staining and processed by amplicon-based assays. Further investigation is required to optimise these standards for MGG stained cells and for hybridisation-based approaches.
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- 2023
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