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Akademický článek

Widening the spectrum of players affected by genetic changes in Wilms tumor relapse

Autor: Sara Ciceri, Alessia Bertolotti, Annalisa Serra, Giovanna Gattuso, Luna Boschetti, Maria Capasso, Cecilia Cecchi, Stefania Sorrentino, Paola Quarello, Chiara Maura Ciniselli, Paolo Verderio, Loris De Cecco, Giacomo Manenti, Francesca Diomedi Camassei, Paola Collini, Filippo Spreafico, Daniela Perotti

Publikováno v: iScience, Vol 27, Iss 9, Pp 110684- (2024)

Summary: Few studies investigated the genetics of relapsed Wilms tumor (WT), suggesting the SIX1 gene, the microRNA processing genes, and the MYCN network as possibly involved in a relevant percentage of relapses. We investigated 28 relapsing WT pati

Externí odkaz: https://doaj.org/article/9b08d6b80aba4d31bd8a8bc405f2e82f

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Akademický článek

Gene expression-based dissection of inter-histotypes, intra-histotype and intra-tumor heterogeneity in pediatric tumors

Autor: Sara Ciceri, Andrea Carenzo, Maria Federica Iannó, Alessia Bertolotti, Carlo Morosi, Roberto Luksch, Filippo Spreafico, Paola Collini, Paolo Radice, Maura Massimino, Loris De Cecco, Daniela Perotti

Publikováno v: Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)

Abstract Intra-tumor heterogeneity (ITH) fosters tumor evolution, resistance to therapy, and relapse. Recently, many evidence have been accumulated on the occurrence of genetic ITH in pediatric cancers. With this study we aimed to address the downstr

Externí odkaz: https://doaj.org/article/433b0d4ecf2249d2baa958198befd2d2

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Finding the way to Wilms tumor by comparing the primary and relapse tumor samples

Autor: Filippo Spreafico, Sara Ciceri, Daniela Perotti

Publikováno v: Cell reports. Medicine. 3(6)

In this issue of Cell Reports Medicine, Gadd and colleagues presented on behalf of the Children's Oncology Group their comprehensive analysis of genetic changes associated with relapse in children with favorable histology Wilms tumor.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::832a78173ccc1967cb002d63bcb60644
https://pubmed.ncbi.nlm.nih.gov/35617957

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Chromosomal anomalies at 1q, 3, 16q, and mutations of SIX1 and DROSHA genes underlie Wilms tumor recurrences

Autor: Federica Torri, Filippo Spreafico, Daniela Perotti, Beatrice Gamba, Monica Terenziani, Fabio Macciardi, Paolo Radice, Sara Ciceri, Paola Collini

Publikováno v: Oncotarget

Approximately half of children suffering from recurrent Wilms tumor (WT) develop resistance to salvage therapies. Hence the importance to disclose events driving tumor progression/recurrence. Future therapeutic trials, conducted in the setting of rel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0173da4ef826848de883a6c2e5ae91d9
https://doi.org/10.18632/oncotarget.6950

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Akademický článek

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Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors

Autor: Silvia Russo, Paolo Peterlongo, Fabio Pagni, Paola Collini, Chiara Picinelli, Siranoush Manoukian, Gaia Roversi, Sara Ciceri, Bernard Peissel, Milena Crippa, Ilaria Bestetti, Daniela Perotti, Fabiana Saccheri, Pietro Luigi Poliani, Serena Catania, Palma Finelli

Publikováno v: Scientific Reports

Multiple primary malignant neoplasms are rare entities in the clinical setting, but represent an important issue in the clinical management of patients since they could be expression of a genetic predisposition to malignancy. A high resolution genome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3816a092e00a653aebb1b367fc22462
https://pubmed.ncbi.nlm.nih.gov/26482194

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PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 16(9)

Purpose:Monoallelic germ-line deleterious mutations of PALB2 (partner and localizer of BRCA2) are associated with breast cancer risk and have been found in several populations, with carrier frequencies of ∼1-2%. Initially, these mutations were cons

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::feac9ad57e96c2bb467a9dfd6f0fc3ba
https://pubmed.ncbi.nlm.nih.gov/24556926

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