Myxoid Liposarcoma: Prognostic Factors and Metastatic Pattern in a Series of 148 Patients Treated at a Single Institution

Objectives: The authors reported a retrospective study on myxoid liposarcomas (MLs), evaluating factors that may influence overall survival (OS), local recurrence-free survival (LRFS), metastasis-free survival (MFS), and analyzing the metastatic pattern. Methods: 148 MLs were analyzed. The sites of metastases were investigated. Results: Margins (p = 0.002), grading (p = 0,0479), and metastasis (p < 0,0001) were significant risk factors affecting overall survival (OS). Type of presentation (p = 0.0243), grading (p = 0,0055), margin (p = 0.0001), and local recurrence (0.0437) were risk factors on metastasis-free survival (MFS). Authors did not observe statistically significant risk factors for local recurrence-free survival (LRFS) and reported 55% extrapulmonary metastases and 45% pulmonary metastases. Conclusion: Margins, grading, presentation, local recurrence, and metastasis were prognostic factors. Extrapulmonary metastases were more frequent in myxoid liposarcoma

Correction of beta-thalassemia major by gene transfer in haematopoietic progenitors of pediatric patients

Beta-thalassemia is a common monogenic disorder due to mutations in the beta-globin gene and gene therapy, based on autologous transplantation of genetically corrected haematopoietic stem cells (HSCs), holds the promise to treat patients lacking a compatible bone marrow (BM) donor. We recently showed correction of murine beta-thalassemia by gene transfer in HSCs with the GLOBE lentiviral vector (LV), expressing a transcriptionally regulated human beta-globin gene. Here, we report successful correction of thalassemia major in human cells, by studying a large cohort of pediatric patients of diverse ethnic origin, carriers of different mutations and all candidates to BM transplantation. Extensive characterization of BM-derived CD34(+) cells before and following gene transfer shows the achievement of high frequency of transduction, restoration of haemoglobin A synthesis, rescue from apoptosis and correction of ineffective erythropoiesis. The procedure does not significantly affect the differentiating potential and the relative proportion of haematopoietic progenitors. Analysis of vector integrations shows preferential targeting of transcriptionally active regions, without bias for cancer-related genes. Overall, these results provide a solid rationale for a future clinical translation

cura e presentazione

In questo Quaderno è presentata una raccolta delle conferenze svolte e di parte del materiale prodotto in occasione del corso di aggiornamento per insegnanti di Scuola secondaria "L’insegnamento dell’Algebra e della Geometria nelle Scuole Secondarie con il contributo dei Software per la didattica", promosso dal liceo scientifico Roiti e dal CSA di Ferrara in collaborazione con l’indirizzo FIM della Scuola di Specializzazione per l’Insegnamento Secondario dell’Università di Ferrar

Severe osteoporosis: diagnosis of non-hip non-vertebral (NHNV) fractures

Osteoporotic bone, structurally altered because of reduction of bone mineral density and quality deterioration, can easily head for fracture after minimum mechanical stress

Long term outcome of surgical treatment of chondroblastoma: analysis of local control and growth plate/articular cartilage related complications

Abstract Background Chondroblastoma (CBL) is a rare benign chondroid producing bone tumor that typically occurs in epiphysis or apophysis of growing children and young adults. Intralesional curettage is the treatment of choice, while resection is required in selected cases, even though the use of minimally invasive ablation techniques has been advocated. Authors reviewed a series of 75 CBLs with the aim of assess risk factors for local recurrence, the growth plate related complications after epiphyseal curettage and the risk of arthritis of the adjacent joint after epiphyseal curettage. Methods We retrospectively review 69 CBLs treated with intralesional curettage and 6 treated with resection from March 1995 to February 2020. The median age was 18.8 years (7 to 42, median 16). The site was proximal humerus in 18 cases, proximal tibia in 17, distal femur in 16, talus in 6, femur’s head in 4, calcaneus in 3, acromion in 3, trochanteric region in 2, distal tibia in 2, patella in 2, supracetabular region in 1 and distal humerus in 1 patient. Results Mean follow-up was 124.2 months (24 to 322, median 116). Among patients treated with curettage, 7.3% of local recurrence was observed and 12 (17.4%) patients developed osteoarthritis of the adjacent joint. Five patients (7.3%) presented limb length discrepancy of the operated limb ranging from 0.5 to 2 cm. Recurrence free survival rate was 94.2% at 5 and 91.6% at 10 years. A mean Musculoskeletal Tumor Society (MSTS) of 29.3 points (20 to 30, median 30) was observed. Conclusion More than 90% of CBLs were successfully treated with aggressive curettage but segmental resection is required in selected cases. In a relatively small proportion of cases long term complications can occur due to growth plate damage or osteoarthritis. Trial Registration Retrospectively registered

Skeletal and extraskeletal angiomatosis with Kasabach-Merritt Syndrome. Report of a case

Background &amp; Objective: Angiomatosis is general term employed to describe a spectrum of rare pathologic conditions characterized diffuse infiltration of bone, soft tissue and viscera by vascular channels filled with lymph or blood. We describe a case of paediatric angiomatosis with extensive skeletal and extraskeletal involvement, and consumption coagulopathy type Kasabach-Merritt syndrome (KMS). Method: A 3-year-old boy presented with a one-month history of left lower limb pain and swelling of the ipsilateral knee. At birth, multiple haemangioma of the soft tissues of the scalp were identified, and a lesion consistent with pulmonary sequestration was detected at chest CT scan. MRI studies revealed multiple lesions of the left femur, with soft tissue extension, of the left tibia and the right femur. A surgical biopsy was taken from the left femur, which was reported as non-diagnostic. One week later the mother reported bleeding from the site of the biopsy. Blood tests demonstrated anaemia, thrombocytopenia and both decreased and consumption of coagulation factors, consistent with KMS. Results: A new biopsy of the femur showed a proliferation of thin-walled, dilated blood vessels, in between the bony trabeculae, as well as in the cortical bone and in the adjacent soft tissues. The endothelial lining was devoid of atypia, and immunoreactive for CD31 and CD34, while podoplanin and GLUT1 were negative. Conclusion: Distinction of skeletal angiomatoses as discrete entities is difficult and has led to an array of confusing conditions with similar appearances at histology, with variable involvement of skeletal and extraskeletal sites