A5019138671- Sarcoma Diagnosis and Treatment
- Cancer-related molecular mechanisms research
- Bone Tumor Diagnosis and Treatments
- Cancer-related gene regulation
- RNA modifications and cancer
- RNA Research and Splicing
- Oral and Maxillofacial Pathology
- Proteoglycans and glycosaminoglycans research
- Cancer, Lipids, and Metabolism
- Protein Degradation and Inhibitors
- Connective tissue disorders research
- Glioma Diagnosis and Treatment
- Cancer Genomics and Diagnostics
- Urologic and reproductive health conditions
- Sperm and Testicular Function
- Lymphoma Diagnosis and Treatment
- Cancer, Hypoxia, and Metabolism
- Wnt/β-catenin signaling in development and cancer
- Extracellular vesicles in disease
- Cancer Cells and Metastasis
- Cell Adhesion Molecules Research
- Cholesterol and Lipid Metabolism
- Osteoarthritis Treatment and Mechanisms
- Glycosylation and Glycoproteins Research
- Lung Cancer Treatments and Mutations
Istituto Ortopedico Rizzoli
2011-2023
Istituti di Ricovero e Cura a Carattere Scientifico
2018-2023
National Cancer Institute
2014
Multiple hereditary exostoses is an autosomal dominant skeletal disorder characterized by wide variation in clinical phenotype. The aim of this study was to evaluate whether the severity disease linked with a specific genetic background.Five hundred and twenty-nine patients multiple from two different European referral centers participated study. According new classification based on presence or absence deformities functional limitations, phenotype assessed as mild (the both aspects),...
Abstract Standard therapy of osteosarcoma (OS) and Ewing sarcoma (EW) rests on cytotoxic regimes, which are largely unsuccessful in advanced patients. Preclinical models needed to break this impasse. A panel patient-derived xenografts (PDX) was established by implantation fresh, surgically resected NSG mice. Engraftment obtained 22 61 OS (36%) 7 29 EW (24%). The success rate establishing primary cell cultures from lower than the percentage PDX engraftment mice, whereas reverse observed for...
This work describes the set-up of a shared platform among laboratories Alleanza Contro il Cancro (ACC) Italian Research Network for identification fusion transcripts in sarcomas by using Next Generation Sequencing (NGS). Different NGS approaches, including anchored multiplex PCR and hybrid capture-based panels, were employed to profile large set different histotypes. The analysis confirmed reliability RNA-based approaches detecting sarcoma-specific rearrangements. Overall, assay proved be...
Multiple osteochondroma (MO) is a rare skeletal disease characterized by the formation of multiple benign cartilage-capped bone tumors; in 1-5% patients, malignant transformation into peripheral chondrosarcoma may occur. This disorder large spectrum germline mutations scattered along EXT1/EXT2 genes, presence significant percentage patients without alterations EXT and phenotypic variability. The molecular basis MO genetic clinical heterogeneity, including causes underlying transformation,...
Abstract Capicua-double homeobox 4 (CIC-DUX4)–rearranged sarcomas (CDS) are extremely rare, highly aggressive primary that represent a major therapeutic challenge. Patients treated according to Ewing sarcoma protocols, but CDS-specific therapies strongly needed. In this study, RNA sequencing was performed on patient samples identify selective signature differentiates CDS from and other fusion-driven sarcomas. This used validate the representativeness of newly generated experimental...
Ewing sarcoma (EWS) is the second most common bone and soft tissue-associated malignancy in children young adults. It driven by fusion oncogene EWS/FLI1 characterized rapid growth early metastasis. We have previously discovered that mRNA binding protein IGF2BP3 constitutes an important biomarker for EWS as high expression of primary tumors predicts poor prognosis patients. additionally demonstrated enhances anchorage-independent migration cells suggesting might work molecular driver...
Abstract Ewing sarcoma (EWS) is a challenging pediatric cancer characterized by vast intra-tumor heterogeneity. We evaluated the RNA-binding protein IGF2BP3, whose high expression correlates with poor prognosis and an elevated tendency of metastases, as possible soluble mediator inter-cellular communication in EWS. Our data demonstrate that (i) IGF2BP3 detected cell supernatants, it released inside extracellular vesicles (EVs); (ii) EVs from IGF2BP3-positive or IGF2BP3-negative EWS cells...
The relevance of the subfamily A members ATP-binding cassette (ABCA) transporters as biomarkers risk and response is emerging in different tumors, but their mechanisms action have only been partially defined. In this work, we investigated role Ewing sarcoma (EWS), a pediatric cancer with unmet clinical issues.The expression ABC was evaluated by RT-qPCR patients localized EWS. correlation outcome established datasets using univariate multivariate statistical methods. Functional studies were...
Osteogenesis imperfecta (OI) is a connective tissue disorder mostly characterized by autosomal dominant inheritance. Over 1,100 causal mutations have been identified scattered along all exons of genes encoding type I collagen precursors, COL1A1 and COL1A2. Because the absence mutational hotspots, Sanger sequencing considered gold standard for molecular analysis even if workload very laborious expensive. To overcome this issue, different prescreening methods proposed, including DHPLC...
Glycosaminoglycans were extracted from both young rabbit growth plate (GRP) and articular (ART) cartilage tissues enzymatically treated to selectively eliminate chondroitin sulfates hyaluronic acid. The procedure avoided any fractionation step that could enrich the extract with over- or under-sulfated species. Isolated heparan sulfate (HS) was characterized by mono- bidimensional nuclear magnetic resonance (NMR) spectroscopy quantify their specific structural features and/or mass...
Ewing sarcoma (EWS), the second most common primary bone tumor in pediatric age, is known for its paucity of recurrent somatic abnormalities. Apart from chimeric oncoprotein that derives fusion EWS and FLI genes, recent genome-wide association studies have identified susceptibility variants near EGR2 gene regulate DNA binding EWS-FLI. However, to induce transformation, EWS-FLI requires presence additional molecular events, including expression CD99, a cell surface molecule with critical...
Multiple osteochondromas (MO) is a hereditary disorder associated with benign cartilaginous tumors, known to be characterized by absence or highly reduced amount of heparan sulfate (HS) in the extracellular matrix growth plate cartilage, which alters proper signaling networks leading improper bone growth. Although recent studies demonstrated accumulation HS cytoplasm MO chondrocytes, nothing on structural alterations prevent from undergoing its physiologic pathway. In this work,...
e23564 Background: Activity of temozolomide (TEM) and irinotecan (IRI) in recurrent Ewing sarcoma (EWS) was demonstrated. Few data are available on TEMIRI use upfront. Biological predictive factors lacking. Methods: This multi-institutional retrospective study (NCT03542097) included 59 patients with EWS. 8 very high risk (HR) EWS (multivisceral ± bone marrow) received (TEM 100 mg/m2/day oral, IRI 40 intravenous, days 1-5, every 21 days) upfront, 51 after relapse (28% 1st line, 72% ≥ 2nd...
<div>Abstract<p>Capicua-double homeobox 4 (CIC-DUX4)–rearranged sarcomas (CDS) are extremely rare, highly aggressive primary that represent a major therapeutic challenge. Patients treated according to Ewing sarcoma protocols, but CDS-specific therapies strongly needed. In this study, RNA sequencing was performed on patient samples identify selective signature differentiates CDS from and other fusion-driven sarcomas. This used validate the representativeness of newly generated...
Supplementary Data from Integrated Molecular Characterization of Patient-Derived Models Reveals Therapeutic Strategies for Treating CIC-DUX4 Sarcoma
Supplementary Data from Integrated Molecular Characterization of Patient-Derived Models Reveals Therapeutic Strategies for Treating CIC-DUX4 Sarcoma
Supplementary Data from Integrated Molecular Characterization of Patient-Derived Models Reveals Therapeutic Strategies for Treating CIC-DUX4 Sarcoma