A5070186540- Sarcoma Diagnosis and Treatment
- Tumors and Oncological Cases
- Renal and related cancers
- Cancer-related molecular mechanisms research
- Cancer Genomics and Diagnostics
- Lymphoma Diagnosis and Treatment
- Neuroblastoma Research and Treatments
- Cardiac tumors and thrombi
- Cancer-related gene regulation
- Cancer Cells and Metastasis
- CAR-T cell therapy research
- Cancer Diagnosis and Treatment
- Vascular Tumors and Angiosarcomas
- Glioma Diagnosis and Treatment
- MicroRNA in disease regulation
- Glycosylation and Glycoproteins Research
- Immunotherapy and Immune Responses
- Cancer, Hypoxia, and Metabolism
- Musculoskeletal synovial abnormalities and treatments
- Salivary Gland Tumors Diagnosis and Treatment
- RNA modifications and cancer
- Soft tissue tumor case studies
- Fibroblast Growth Factor Research
- Epigenetics and DNA Methylation
- Bone Tumor Diagnosis and Treatments
Città della Speranza Foundation
2014-2024
University of Padua
2009-2023
Azienda Ospedaliera di Padova
2020-2023
Hematology\Oncology Clinic
2014
Sclerosing rhabdomyosarcoma (ScRMS) and spindle cell (SRMS) have been recently reclassified as a stand-alone pathologic entity, separate from embryonal RMS. Genetically, subset of the congenital cases display NCOA2 gene rearrangements, whereas tumors occurring in older children or adults harbor MYOD1 mutations with without coexisting PIK3CA mutations. Despite these recent advances, significant number lack known genetic alterations. In this study we sought to investigate large group pediatric...
With the advent of next-generation sequencing, an increasing number novel gene fusions and other abnormalities have emerged recently in spectrum EWSR1 -negative small blue round cell tumors (SBRCTs). In this regard, a subset SBRCTs harboring either BCOR ( BCOR-CCNB3 , BCOR-MAML3 ), internal tandem duplications (ITD), or YWHAE-NUTM2B share transcriptional signature including high mRNA expression, as well similar histologic features. Furthermore, such clear sarcoma kidney (CCSK) primitive...
Soft tissue undifferentiated round cell sarcoma (URCS) occurring in infants is a heterogenous group of tumors, often lacking known genetic abnormalities. On the basis t(10;17;14) karyotype pelvic URCS 4-month-old boy showing similar breakpoints with clear kidney (CCSK), we have investigated possibility shared abnormalities CCSK and soft URCS. Most CCSKs are characterized by BCOR exon 16 internal tandem duplications (ITDs), whereas smaller subset shows YWHAE - NUTM2B/E fusions. Because...
BACKGROUND Alveolar rhabdomyosarcoma (aRMS) with lymph node involvement (N1 classification) accounts for up to 10% of all cases RMS. The prognosis is poor, and comparable that distant metastatic disease. In the European Paediatric Soft Tissue Sarcoma Study Group (EpSSG) RMS2005 protocol, patients a histologic diagnosis aRMS/N1 received intensified chemotherapy systematic locoregional treatment. METHODS Patients were enrolled prospectively after primary surgery/biopsy fusion status was...
Recent methodology has enabled the identification of some new genetic subgroups within melting pot lesions presently classified by 2013 WHO classification as “undifferentiated/unclassified sarcomas”. One these is characterized a paracentric inversion X chromosome with consequent formation BCOR-CCNB3 fusion. Clinical and pathological features tumors overlap Ewing sarcoma family well other soft tissue sarcomas, thus making them difficult to diagnose. To investigate morphological...
In the pediatric population, BCL6-correpresor gene (BCOR)–upregulated tumors include primitive myxoid mesenchymal tumors/undifferentiated sarcomas (PMMTI/UND), clear cell of kidney (CCSK), and high-grade neuroepithelial (HG-NET). We investigated DNA methylation (DNAm) copy number variation (CNV) profiling in these (N = 34) using an Illumina EPIC BeadChip to better define potential use tools confirm diagnosis predict outcomes. Twenty-seven from 25 patients (age range, 0-10 years), showed...
Neuroblastoma (NB) is a paediatric tumour of the sympathetic nervous system. Half all cases are defined high-risk with an overall survival less than 40% at 5 years from diagnosis. The lack in vitro models able to recapitulate intrinsic heterogeneity primary NB tumours has hindered progress understanding disease pathogenesis and therapy response.Here we describe establishment 6 patient-derived organoids (PDOs) cells biopsies capable self-organising structure resembling tissue origin.PDOs...
Liquid biopsy analysis represents a powerful and noninvasive tool to uncover biomarkers for disseminated disease assessment longitudinal monitoring of patients. Herein, we explored the value circulating tumor cells (CTC DTC, respectively) cell‐free DNA (cfDNA) in pediatric rhabdomyosarcoma (RMS). Peripheral blood bone marrow samples were analyzed detect enumerate CTC respectively. We used epithelial cellular adhesion molecule (EpCAM)‐based CellSearch platform coupled with an automatic device...
CWS/RMS-96 was an international multicenter trial with randomization between two therapy arms of the standard four-drug (vincristine, ifosfamide, adriamycin, dactinomycin [VAIA]) versus intensified six-drug regimen (carboplatin, epirubicin, vincristine, dactinomycin, and etoposide [CEVAIE]) for high-risk rhabdomyosarcoma (RMS), extraskeletal Ewing sarcoma (EES), undifferentiated (UDS) in children, adolescents, young adults aiming to improve their survival. Intensified chemotherapy CEVAIE did...
Abstract Background Rhabdomyosarcoma (RMS) is a malignant soft tissue sarcoma of childhood including two major histological subtypes, alveolar (ARMS) and embryonal (ERMS) RMS. Like other human malignancies RMS possesses high metastatic potential, more pronounced in ARMS than ERMS. This feature influenced by several biological molecules, soluble factors secreted tumor cells, such as heparanase (HPSE). HPSE an endo-β-D-glucuronidase that cleaves heparan sulphate proteoglycans. Methods We...
Rhabdomyosarcoma (RMS) is the most common pediatric soft tissue sarcoma and mostly represented by embryonal (ERMS) alveolar (ARMS) histotypes. Whereas ERMS shows variable genetic alterations including TP53, RB1, RAS mutations, ARMS carries a gene fusion between PAX3 or PAX7 FOXO1. Epithelioid RMS morphologic variant of recently described in adults. Five cases epithelioid were identified after histologic review 85 enrolled Italian therapeutic protocols. Immunostaining analyses...
Background Rhabdomyosarcomas (RMS) are rare but very aggressive childhood tumors that arise as a consequence of regulatory disruption in the growth and differentiation pathways myogenic precursor cells. According to morphological criteria, there two major RMS subtypes: embryonal (ERMS) alveolar (ARMS) with latter showing greater aggressiveness metastatic potential respect former. Efforts unravel complex molecular mechanisms underlying pathogenesis progression have revealed microRNAs (miRNAs)...
Abstract Background As dermatofibrosarcoma protuberans (DFSP) are rare with no prospective series within paediatric sarcoma trials, the European Paediatric Soft Tissue Sarcoma Study Group (EpSSG) examined clinical data and outcomes of DFSP enrolled in a multinational study non‐rhabdomyosarcoma soft tissue sarcomas (NRSTS). Patients methods Forty‐six patients confirmed were into EpSSG NRSTS 2005 study. All had surgical resection none any further therapy at diagnosis. Results The median age...
Anaplastic lymphoma kinase (ALK) is a receptor tyrosine aberrantly expressed in cancer, but its clinical and functional importance remain controversial. Mutation or amplification of ALK, as well expression levels assessed by conventional immunohistochemistry methods, has been linked to prognosis although with potential bias because the semi-quantitative approaches. Herein, we measured ALK mRNA rhabdomyosarcoma (RMS) determined impact on patients' stratification outcome. Specimens were...
Rhabdomyosarcoma (RMS) arises from myogenic precursors that fail to complete muscle differentiation and represents the most frequent soft tissue sarcoma in children. Two major histological subtypes are recognized: alveolar RMS, characterized by a more aggressive behavior greater proneness metastasis, embryonal RMS which accounts for 80% of cases carries better prognosis. Despite survival patients with localized tumors has progressively improved, remains challenging disease especially...
Rhabdomyosarcoma (RMS) is the most frequent soft tissue tumor in childhood and arises from immature mesenchymal cells committed to skeletal muscle differentiation. Anaplastic Lymphoma Kinase (ALK) a receptor tyrosine kinase aberrantly expressed several cancers. Moreover, ALK full-length protein has been observed RMS, although its clinical functional significance yet controversial. The role of relevance were investigated selected cohort 74 FFPE pediatric RMS panel cell lines, evaluating gene...
// Lucia Tombolan 1, 4 , Elena Poli Paolo Martini 1 Angelica Zin 3 Chiara Romualdi Gianni Bisogno Gerolamo Lanfranchi 2 Department of Biology, University Padova, Italy Centro di Ricerca Interdipartimentale per le Biotecnologie Innovative, Institute Pediatric Research, Women's and Children's Health, Oncology Hematology Division, Correspondence to: Tombolan, email: lucia.tombolan@unipd.it Keywords: DNA methylation, RRBS, sequencing, rhabdomyosarcoma, NELL1 Received: October 20, 2016 Accepted:...
Rhabdomyosarcoma (RMS), which can be classified as embryonal RMS (ERMS) and alveolar (ARMS), represents the most frequent soft tissue sarcoma in pediatric population; latter shows greater aggressiveness metastatic potential with respect to former. Epigenetic alterations cancer include DNA methylation changes histone modifications that influence overall gene expression patterns. Different tumor subtypes are characterized by distinct signatures could facilitate early disease detection...
Insulin-like growth factor-binding protein 2 (IGFBP2) is a tumor-associated measurable in patients' biopsies and blood samples. Increased IGFBP2 expression correlates with tumor severity rhabdomyosarcoma (RMS). Thus, we examined the plasmatic levels 114 RMS patients 15 healthy controls by ELISA assay order to evaluate its value as plasma biomarker for RMS. Additionally, looked presence of humoral response against IGBFP2 production anti-IGFBP2 autoantibodies. We demonstrated that both...