Publications by authors named "G Magagnoli"
: Musculoskeletal neoplasms are rare and challenging diseases. Their geographic pattern varies worldwide, and no studies analyze their distribution in Italy. The aim of this study was to investigate a possible association between clinical variables to a period of diagnosis and geographic origin in Italy.
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- Recent studies show a partial loss of SMARCB1/INI1 expression in skull base chordomas, suggesting potential treatment options for these tumors; this study focused on 89 patients with spinal chordomas.
- The analysis found that 41.6% of patients exhibited partial SMARCB1/INI1 loss, primarily due to a deletion on chromosome 22, with significant implications for tumor location and surgical outcomes.
- Key findings indicated that tumor location (specifically in the sacrococcygeal region) and adequate surgical margins were linked to better disease-free survival rates, highlighting important factors for patient prognosis.
Background: A BCL6 corepressor (BCOR) gene alteration is a genetic signature of rare subsets of sarcomas. The identification of this alteration has recently contributed to the definition of new entities in the current WHO (2020) classification of soft tissue and bone tumours. We retrospectively examined cases of BCOR-rearranged sarcoma (BRS) to assess the reliability of the BCOR FISH analysis using an IVD (in vitro diagnostic) probe.
View Article and Find Full Text PDFBackground: Heterozygous isocitrate dehydrogenase (IDH) mutations occur in about half of conventional central bone chondrosarcomas (CCBC). Aim of this study was to assess the frequency and prognostic impact of IDH mutations in high grade CCBC patients.
Methods: 64 patients with G2 and G3 CCBC were included.
Introduction: The loss of SMARCB1/INI1 protein has been recently described in poorly differentiated chordoma, an aggressive and rare disease variant typically arising from the skull base.
Methods: Retrospective study aimed at 1) examining the differential immunohistochemical expression of SMARCB1/INI1 in conventional skull base chordomas, including the chondroid subtype; 2) evaluating SMARCB1 gene deletions/copy number gain; and 3) analyzing the association of SMARCB1/INI1 expression with clinicopathological parameters and patient survival.
Results: 65 patients (35 men and 30 women) affected by conventional skull base chordoma, 15 with chondroid subtype, followed for >48 months after surgery were collected.