A5087795149- Glioma Diagnosis and Treatment
- Neuroblastoma Research and Treatments
- Sarcoma Diagnosis and Treatment
- Cancer Genomics and Diagnostics
- Epigenetics and DNA Methylation
- Congenital Anomalies and Fetal Surgery
- Congenital Diaphragmatic Hernia Studies
- Neonatal Respiratory Health Research
- Neurofibromatosis and Schwannoma Cases
- Adrenal and Paraganglionic Tumors
- Chromatin Remodeling and Cancer
- Neurogenetic and Muscular Disorders Research
- Cerebrospinal fluid and hydrocephalus
- Neurological diseases and metabolism
- Celiac Disease Research and Management
- Soft tissue tumor case studies
- Microtubule and mitosis dynamics
- Cancer-related molecular mechanisms research
- Genomics and Rare Diseases
- Amyotrophic Lateral Sclerosis Research
- Genomics and Chromatin Dynamics
- Cancer, Hypoxia, and Metabolism
- Genomic variations and chromosomal abnormalities
Bambino Gesù Children's Hospital
2022-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2019-2024
University of Trieste
2021-2024
Università Cattolica del Sacro Cuore
2019
Agostino Gemelli University Polyclinic
2017-2019
Access at https://isn-slidearchive.org/?col=ISN&fol=Archive&file=BPA-24-10-CIR-279.tiff An 11-year-old boy was referred to our institution from a resource-limited country with history of hydrocephalus secondary posterior fossa tumor. Magnetic resonance imaging (MRI) revealed large extra-axial neoplasm located the tentorium, measuring 5.1 × 4.2 4.0 cm (Figure 1), causing marked distortion adjacent structures and transtentorial herniation. The lesion strongly enhancing, associated massive...
Pineoblastoma is a rare and aggressive malignancy that often affects pediatric populations. Accurate diagnosis challenging due to histological overlap with other central nervous system tumors limited molecular data. DNA methylation profiling analysis of circulating tumor (derived from both cell dissemination as well cell-free– cfDNA) in cerebrospinal fluid (CSF) are emerging tools for precise classification, the field tumors. Here, we report case 17-year-old refugee girl previous primitive...
EGFR-kinase-domain duplication (KDD) has been reported in Infantile fibrosarcoma-like myofibroblastic tumors and cellular mesoblastic nephroma. We report a pulmonary neoplasm with EGFR-(KDD) infantile histologic features female infant an unusual clinical evolution, characterized by persistent disease morphologic of Congenital Peribronchial Myofibroblastic Tumor (CPMT) after chemotherapy targeted therapy. The CPMT morphology EGFR-KDD the post-therapy specimen might be evolution induced...
Abstract Background Malignant peripheral nerve sheath tumors (MPNSTs) account for 3–10% of pediatric sarcomas, 50% which occur in neurofibromatosis type 1 (NF1). Sporadic MPNSTs diagnosis may be challenging due to the absence specific markers, apart from immunohistochemical H3K27me3 loss. DNA methylation (DNAm) profiling is a useful tool brain and mesenchymal neoplasms categorization, exhibit DNAm signature. An MPNST-like group has recently been recognized, including with retained mark...
In vitro models of pediatric brain tumors (pBT) are instrumental for better understanding the mechanisms contributing to oncogenesis and testing new therapies; thus, ideally, they should recapitulate original tumor. We applied DNA methylation (DNAm) copy number variation (CNV) profiling characterize 241 pBT samples, including 155 86 pBT-derived cell cultures, considering serum vs serum-free conditions, late early passages, dimensionality (2D 3D cultures). performed a t-SNE classification...
Ewing Sarcomas (EWS, OMIM # 612219) presents a major challenge in pediatric oncology due to its aggressive nature and poor prognosis, particularly metastatic cases. Genetic fusions involving the EWSR1 gene ETS family transcription factors are common EWS, though other rarer have also been identified. Current standard techniques like immunohistochemistry failed fully characterize immune tumor microenvironment of hindering insights into development treatment strategies. Recent efforts apply...
KAT6B sequence variants have been identified in both patients with the Say–Barber–Biesecker–Young–Simpson syndrome (SBBYSS) and genitopatellar (GPS). In SBBYSS, they were reported to affect mostly exons 16–18 of , predicted mechanism pathogenesis was haploinsufficiency or a partial loss protein function. Truncating leading GPS appear cluster within proximal portion exon 18, associated dominant‐negative effect mutated protein, most likely. Although SBBYSS initially considered allelic...
The treatment of asymptomatic patients with congenital pulmonary malformations (CPMs) remains controversial, partially because the relationship between lung and malignancy is still undefined. Change in methylation pattern a crucial event human cancer, including cancer. We therefore studied all differentially methylated regions (DMRs) series CPMs an attempt to find anomalies genes already described association malignancy.The DNA extracted from resected control tissue was screened using...
Abstract BACKGROUND Recent genomic and epigenomic profiling analyses have provided remarkable insights into biology of pediatric brain tumors (pBTs). Nonetheless, pBTs represent the deadliest childhood cancer worldwide are associated with high morbidity. In vitro models pBT instrumental for better understanding mechanisms contributing to oncogenesis testing new therapies; thus, ideally, they should recapitulate original tumor. METHODS We applied DNA methylation (DNAm) copy number variation...
Abstract BACKGROUND Glioblastoma (GBM) 5-year survival (LTS) and a 10-year (VLTS) rate are extremely low, reaching 7% 4.7% respectively (2020 CBTRUS Statistical Report). The biological mechanisms that drive the prolonged clinical outcomes remain significantly understudied. MATERIAL AND METHODS As part of recent study on LTS (PMID: 38423245), here we detail two out 17 VLTS cases, addressed with extensive molecular analyses. RESULTS Patient AR 10-046 was 31-year-old female left fronto-parietal...
Abstract Glioblastoma multiforme (GBM) has a dismal outcome of approximately 12 months. Less than 5% patients (long-term survivors-LTS) survives more 5-years, including IDH-mutant gliomas. Nevertheless, the molecular fingerprint LTS remains largely uncharted. DNA methylation (DNAm) is an epigenetic modification, altered in cancer and used to classify brain tumors. In this multicentric study sponsored by Alleanza Contro il Cancro (ACC) network, we aimed molecularly characterize vs standard...