Clinico-pathologic and molecular analysis of myxofibrosarcoma of the extremities.

AIM The aim of this study was to perform a molecular analysis and to identify class of risk, in terms of local recurrence and survival, in patients affected by myxofibrosarcoma (MFS) of the extremities. MATERIALS AND METHODS A total of 166 patients (>18 years) affected by primary MFS of the extremities were included. Immunohistochemistry expression of MET, RET, p53 and Rb1 was evaluated on tissue MicroArray (TMA) in the whole series. Next generation sequencing (NGS) analysis was performed on 20 samples. Differences in p53 mutations were observed among relapsed and not relapsed cases. Thus, Sanger sequencing was performed on a total of 83 samples. Somatic copy number variations (CNV) of analyzed genes were hypothesized based on allelic frequencies observed. A digital assay of p53 and Met was therefore performed to confirm and characterize them as amplifications or deletions. RESULTS HIC was positive for MET protein in 81.9% and positive for p53 in 19.3%. Point mutations in Tp53 were observed in 25.3%.ses. Point mutations alone were observed in only two cases (2.3%), whereas in 19 (22.9%) they were associated with a gene deletion. Most of the cases (52, 61.9%) presented a Tp53 gene deletion. Cases with overexpression of MET had a higher risk of local recurrence (LR) (p=0.047), Tp53 point mutations increased the risk of LR (p=0.032). CONCLUSIONS We confirm that Tp53 and MET are frequently altered genes in MFS of the extremities. Both CNV and point mutations appear to play important roles in MFS tumorigenesis. Point mutations in Tp53 seem to influence the risk of both local recurrence and survival

Low-grade fibromyxoid sarcoma of the extremities: A clinicopathologic study of 24cases and review of the literature

Low-grade fibromyxoid sarcoma (LGFMS) and hybrid sclerosing epithelioid fibrosarcoma (SEF)/LGFMS have a low potential for recurrence (10%) and metastasis (5%) but they are notorious for late occurring metastases. The aim of this study was to evaluate the outcome of LGFMS and review similar cases reported in the literature. We retrospectively evaluated 24 LGFMS operated at a single Institution. All cases were histologically revised. Mean age was 34 years (range, 8 to 74). Two cases presented areas of SEF (hybrid tumours). Three patients presented with metastasis at diagnosis. A strong cytoplasmic staining for MUC4 antibody was found in the majority of neoplastic cells. RT-PCR was feasible in 6 cases and it detected the presence of FUS-CREB3L2 fusion gene chimeric transcript. Mean follow-up was 44 months (range, 6 to 217). Two patients developed lung metastasis after 9 and 26 months respectively. Low-grade fibromyxoid sarcoma has a various histopathologic spectrum with few cases of LGFMS that share histopathologic resemblance with SEF, thereby reinforcing a possibility of a link within these two. It is of paramount importance an accurate and extensive sampling and examination of the whole specimen, in order to identify higher risk patients

Outcomes of Vancouver B2- type and B3-type proximal femur periprosthetic fractures after revision surgery using cementless tapered modular stem: a retrospective case series of 39 fractures

Objective. Evaluate outcomes of Vancouver B2-type and B3-type proximal femur periprosthetic fractures (PPFs) in elderly patients treated with a cementless tapered modular femoral stem. Methods. 37 patients with a proximal femur PPF (34 B2-type and 5 B3-type) on primary or revision implants, with a minimum of 2-year follow-up, treated with revision of the failed stem using uncemented MP® reconstruction system stem (Waldemar Link®), were included.Results. At last follow-up, the average Harris Hip Score was 91 ± 9.8, and average Numerical Rating Score was 0.7 ± 0.8, without a significant difference between B2-type and B3-type PPFs. X-rays at last follow-up revealed bone union in all patients. According to Beals and Tower's criteria, we found excellent radiological findings in 89.7% patients. Fourteen local surgery-related complications were reported (35.9%), and 4 patients required revision surgery (10.2%), without significant differences between B2-type and B3-type PPFs. We found involvement of both trochanters in fracture as a possible risk factor for dislocation.Conclusions. Vancouver B2-type and B3-type PPFs can be effectively treated using a cementless modular stem, even without cortical struts graft, although further studies are needed regarding B3-type PPFs

Combined Orthoplastic Approach in Fracture-Related Infections of the Distal Tibia

This series reports on the treatment of distal tibia (DT) fracture-related infections (FRI) with a combined orthoplastic approach. Thirteen patients were included. In eight patients with extensive bone involvement and in those with a non-healed fracture, the DT was resected ("staged approach"). In five cases, the DT was preserved ("single-stage approach"). A wide debridement was performed, and the cavity was filled with antibiotic-loaded PerOssal beads. All patients had a soft-tissue defect covered by a free vascularized flap (anterolateral thigh perforator flap in eight cases, latissimus dorsi flap in five). At the final follow-up (mean 25 months, range, 13-37), no infection recurrence was observed. In one patient, the persistence of infection was observed, and the patient underwent a repeated debridement. In two cases, a voluminous hematoma was observed. However, none of these complications impacted the final outcome. The successful treatment of FRI depends on proper debridement and obliteration of dead spaces with a flap. Therefore, when dealing with DT FRI, debridement of infected bone and soft tissues must be as radical as required, with no fear of the need for massive reconstructions

Bone and Joint Infections: The Role of Imaging in Tailoring Diagnosis to Improve Patients' Care

Imaging is needed for the diagnosis of bone and joint infections, determining the severity and extent of disease, planning biopsy, and monitoring the response to treatment. Some radiological features are pathognomonic of bone and joint infections for each modality used. However, imaging diagnosis of these infections is challenging because of several overlaps with non-infectious etiologies. Interventional radiology is generally needed to verify the diagnosis and to identify the microorganism involved in the infectious process through imaging-guided biopsy. This narrative review aims to summarize the radiological features of the commonest orthopedic infections, the indications and the limits of different modalities in the diagnostic strategy as well as to outline recent findings that may facilitate diagnosis

Efficacy of SARS-CoV-2 Vaccination in Dialysis Patients: Epidemiological Analysis and Evaluation of the Clinical Progress

This study investigated the impact of the fourth COVID-19 pandemic wave on dialysis patients of Romagna territory, assessing the associations of vaccination status with infection risk, clinical severity and mortality. From November 2021 to February 2022, an epidemiological search was conducted on 829 patients under dialysis treatment for at least one month. The data were then analyzed with reference to the general population of the same area. A temporal comparison was also carried out with the previous pandemic waves (from March 2020 to October 2021). The epidemiological evolution over time in the dialysis population and in Romagna citizens replicated the global trend, as the peak of the fourth wave corresponded to the time of maximum diffusion of omicron variant (B.1.1.529). Of 771 prevalent dialysis patients at the beginning of the study, 109 (14.1%) contracted SARS-CoV-2 infection during the 4-month observation period. Vaccine adherence in the dialysis population of the reference area was above 95%. Compared to fully or partially vaccinated subjects, the unvaccinated ones showed a significantly higher proportion of infections (12.5% vs. 27.0% p = 0.0341), a more frequent need for hospitalization (22.2% vs. 50.0%) and a 3.3-fold increased mortality risk. These findings confirm the effectiveness of COVID-19 vaccines in keeping infectious risk under control and ameliorating clinical outcomes in immunocompromised patients

Molecular Approach for the Laboratory Diagnosis of Periprosthetic Joint Infections

The incidence of total joint arthroplasty is increasing over time since the last decade and expected to be more than 4 million by 2030. As a consequence, the detection of infections associated with surgical interventions is increasing and prosthetic joint infections are representing both a clinically and economically challenging problem. Many pathogens, from bacteria to fungi, elicit the immune system response and produce a polymeric matrix, the biofilm, that serves as their protection. In the last years, the implementation of diagnostic methodologies reduced the error rate and the turn-around time: polymerase chain reaction, targeted or broad-spectrum, and next-generation sequencing have been introduced and they represent a robust approach nowadays that frees laboratories from the unique approach based on culture-based techniques

Viral Population Heterogeneity and Fluctuating Mutational Pattern during a Persistent SARS‐CoV‐2 Infection in an Immunocompromised Patient

Literature offers plenty of cases of immunocompromised patients, who develop chronic and severe SARS‐CoV‐2 infections. The aim of this study is to provide further insight into SARS-CoV‐2 evolutionary dynamic taking into exam a subject suffering from follicular lymphoma, who developed a persistent infection for over 7 months. Eight nasopharyngeal swabs were obtained, and were analyses by qRT‐PCR for diagnostic purposes. All of them were considered eligible (Ct < 30) for NGS sequencing. Sequence analysis showed that all sequences matched the B.1.617.2 AY.122 lineage, but they differed by few mutations identifying three genetically similar subpopulations, which evolved during the course of infection, demonstrating that prolonged replication is paralleled with intra‐host virus evolution. These evidences support the hypothesis that SARS‐CoV‐2 adaptive capacities are able to shape a heterogeneous viral population in the context of immunocompromised patients. Spill‐over of viral variants with enhanced transmissibility or immune escape capacities from these subjects is plausible

Expandable distal femur megaprosthesis : a European Musculoskeletal Oncology Society study on 299 cases

Background and Objectives Expandable distal femur prostheses have become more popular over the last decades, but scientific data is limited. Methods A retrospective study was performed, including cases treated between 1986 and 2019 in 15 European referral centers for bone sarcomas. Results A total of 299 cases were included. Average follow-up was 80 months (range, 8-287 months). Mean patient age was 10 years. Most (80%) of the implants were noninvasive growers and a fixed hinge knee was used more often (64%) than a rotating hinge. Most prosthetic designs showed good (>80%) implant survival at 10 years, but repeat surgery was required for 63% of the patients. The most frequent reason for revision procedure was the completion of lengthening potential. Noninvasive expandable implants showed less risk of infection compared to invasive growers (11.8% vs 22.9% at 10 years). No difference in aseptic loosening was found between cemented and uncemented stems. Conclusions This study shows the increasing popularity of expandable distal femur prostheses, with overall good results for function and implant survival. However, repeat surgery is frequently required, especially in patients under the age of 10 years old. Infection is less frequent in noninvasive growers compared to implants that require invasive lengthening procedures