- CAR-T cell therapy research
- Cancer Research and Treatments
- Acute Myeloid Leukemia Research
- Virus-based gene therapy research
- Acute Lymphoblastic Leukemia research
- Peptidase Inhibition and Analysis
- RNA modifications and cancer
- Protein Degradation and Inhibitors
- Cancer Genomics and Diagnostics
- Chronic Myeloid Leukemia Treatments
- Epigenetics and DNA Methylation
- Pancreatic and Hepatic Oncology Research
- Sarcoma Diagnosis and Treatment
- RNA Interference and Gene Delivery
- Chronic Lymphocytic Leukemia Research
- Amino Acid Enzymes and Metabolism
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Renal and related cancers
- Fibroblast Growth Factor Research
- Cancer Diagnosis and Treatment
- Genomic variations and chromosomal abnormalities
- Histone Deacetylase Inhibitors Research
- Medical Imaging and Pathology Studies
- Retinoids in leukemia and cellular processes
- Social Policies and Family
Azienda USL di Bologna
2021-2025
University of Bologna
2006-2019
Policlinico S.Orsola-Malpighi
2013-2019
Medica (Italy)
2016
Institute of Cancer Research
2011
University of Amsterdam
2011
University of Parma
2011
Abstract Purpose: Rhabdomyosarcomas are a major cause of cancer death in children, described with MYCN amplification and, the alveolar subtype, transcription driven by PAX3-FOXO1 fusion protein. Our aim was to determine prevalence N-Myc protein expression and potential therapeutic effects reducing rhabdomyosarcomas, including use an antigene strategy that inhibits transcription. Experimental Design: Protein assessed immunohistochemistry. reduced representative cell lines RNA interference...
Abstract FGFR inhibitors have been developed to inhibit activation and signal transduction; notwithstanding, currently the selection of intrahepatic cholangiocarcinoma (iCCA) patients for these drugs only relies on detection FGFR2 genetic alterations (GAs) in tumor tissues or circulating DNAs, without concomitant assessment signalling status. Accordingly, we performed multi-omic analyses genes molecules tissue samples from 36 iCCA naïve patients. Gain-of-function GAs were detected 7...
Extraskeletal myxoid chondrosarcoma (EMC) is a very rare sarcoma most often arising in the soft tissue. Rare EMC of bone have been reported. exhibits distinctive clinico-pathological and genetic features; however, despite name, it lacks any feature cartilaginous differentiation. characterized by rearrangement NR4A3, which, cases (about 62-75%), fused with EWSR1 less frequently other partners, including TAF15 (27%), TCF12 (4%), TFG, FUS. We herein report identification whole-transcriptome...
Abstract The extracellular vesicle (EV) route is essential for cell-to-cell communication. Cancer cells release EVs in the space, where they can interact with cancer and non-cancer cells, activating specific signaling pathways, modulating tumor microenvironment remodeling inducing gene expression alterations. We investigated functional role of released by unknown primary (CUP), a rare disease (1-3% novel diagnoses) that presents metastasis or uncertain origin no apparent tumor. derived three...
CBFA2T3-GLIS2 is a fusion gene found in 17% of non-Down syndrome acute megakaryoblastic leukemia (non-DS AMKL, FAB M7) and 8% pediatric cytogenetically normal myeloid (CN-AML, association with several French-American-British (FAB) subtypes). Children AML harboring this aberration have poor outcome, regardless the subtype. This drives peculiar expression pattern leads to overexpression some Hedgehog-related genes. GLI-similar protein 2 (GLIS2) closely related GLI family, final effectors...
Patients with cancer of unknown primary (CUP) carry the double burden an aggressive disease and reduced access to therapies. Experimental models are pivotal for CUP biology investigation drug testing. We derived two cell lines (CUP#55 #96) corresponding patient-derived xenografts (PDXs), from ascites tumor cells. PDXs underwent histological, immune-phenotypical, molecular, genomic characterization confirming features original tumor. The tissue-of-origin prediction was obtained microRNA...
// Salvatore Nicola Bertuccio 1 , Serravalle Annalisa Astolfi 1, 2 Lonetti Valentina Indio Anna Leszl 3 Andrea Pession and Fraia Melchionda Pediatric Hematology Oncology Unit, Department of Pediatrics, S.Orsola-Malpighi Hospital, University Bologna, Italy “Giorgio Prodi” Cancer Research Center, Woman Child Health, Laboratory Hematology-Oncology, Padova, Correspondence to: Melchionda, email: fraia.melchionda@aosp.bo.it Keywords: acute myeloid leukemia, monosomy chromosome 7,...
Clear cell sarcoma of the kidney (CCSK) is a rare pediatric renal tumor with worse prognosis than Wilms' tumor. Although recently, BCOR internal tandem duplication (ITD) has been found as driver mutation in more 80% cases, deep molecular characterization this still lacking, well its correlation clinical course. The aim study was to investigate differential signature between metastatic and localized BCOR-ITD-positive CCSK at diagnosis. Whole-exome sequencing (WES) whole-transcriptome (WTS)...
MYCN is an oncogene frequently overexpressed in pediatric solid tumors whereas few evidences suggest his involvement the pathogenesis of haematologic malignancies. Here we show that a relevant proportion (40 to 50%) adult and T-cell acute lymphoblastic leukemias (T-ALL). Focusing on T-ALL, MYCN-expressing samples were found almost exclusively TAL1-positive subgroup. Moreover, TAL1 knockdown T-ALL cell lines resulted reduction expression, directly binds promoter region, suggesting pathway...
Despite significant improvement in treatment of childhood acute myeloid leukemia (AML), 30% patients experience disease recurrence, which is still the major cause failure and death these patients. To investigate molecular mechanisms underlying relapse, we performed whole-exome sequencing diagnosis-relapse pairs matched remission samples from 4 pediatric AML without recurrent cytogenetic alterations. Candidate driver mutations were selected for targeted deep at high coverage, suitable to...
// Milena Urbini 1 , Annalisa Astolfi Valentina Indio Giuseppe Tarantino Salvatore Serravalle 2 Maristella Saponara 3 Margherita Nannini Alessandro Gronchi 4 Marco Fiore Roberta Maestro 5 Monica Brenca Angelo Paolo Dei Tos 6 Gian Dagrada 7 Tiziana Negri Silvana Pilotti Giovanni Casali 8 Guido Biasco Andrea Pession 1,2 Silvia Stacchiotti and Maria Abbondanza Pantaleo 1,3 "Giorgio Prodi" Cancer Research Center, University of Bologna, Italy Pediatric Hematology Oncology Unit, S.Orsola-Malpighi...
T-Acute Lymphoblastic Leukemia (T-ALL) remains a subgroup of pediatric ALL, with lower response to standard chemotherapy. Some recent studies established the fundamental role epigenetic aberrations such as DNA hypermethylation, influence patients' outcome and Moreover, L-asparaginase is an important chemotherapeutic agent for treatment ALL resistance this drug has been linked ASNS expression, which can be silenced through methylation. Therefore, we tested whether sensitivity T-ALL cell lines...
Supplemental Digital Content is available in the text
Gaucher disease is a lysosomal storage disorder characterized by β-glucosidase enzyme deficiency and substrate accumulation, especially in cells of the reticuloendothelial system. Typical features are unrestrained activation inflammatory mechanisms, whose molecular pathways still unclear. To investigate biological mechanisms underlying macrophage GD, we derived iPSCs from healthy donor GD patient line differentiated them into hematopoietic progenitors. While able to efficiently give rise...
Intraductal papillary mucinous neoplasm (IPMN) is the most common cystic preneoplastic lesion of pancreatic cancer. We used an approach coupling high resolution cytogenetic analysis (Affymetrix Oncoscan FFPE Array) with clinically-oriented bioinformatic interpretation data to understand relevant alterations precursor lesions at different stages identify new diagnostic markers.We identified multiple copy number alterations, particularly in severe dysplasia, 7 IPMN low-intermediate dysplasia...
Abstract Gaucher Disease (GD), the most common lysosomal disorder, arises from mutations in GBA1 gene and is characterized by a wide spectrum of phenotypes, ranging mild hematological visceral involvement to severe neurological disease. Neuronopathic patients display dramatic neuronal loss increased neuroinflammation, whose molecular basis are still unclear. Using combination Drosophila dGBA1b loss-of-function models GD patient-derived iPSCs differentiated towards precursors mature neurons...