Deciphering the Genomic Landscape and Pharmacological Profile of Uncommon Entities of Adult Rhabdomyosarcomas.

Adult rhabdomyosarcoma (RMS) represents an uncommon entity with an incidence of less than 3% of all soft tissue sarcomas (STS). Consequently, the natural history and the clinical management of this disease are infrequently reported. In order to fill this gap, we investigated the molecular biology of an adult RMS case series. The expression of epithelial mesenchymal transition-related gene and chemoresistance-related gene panels were evaluated. Moreover, taking advantage of our STS translational model combining patient-derived primary culture and 3D-scaffold, the pharmacological profile of an adult head and neck sclerosing RMS was assessed. Furthermore, NGS, microsatellite instability, and in silico analyses were carried out. RT-PCR identified the upregulation of CDH1, SLUG, MMP9, RAB22a, S100P, and LAPTM4b, representing promising biomarkers for this disease. Pharmacological profiling showed the highest sensitivity with anthracycline-based regimen in both 2D and 3D culture systems. NGS analysis detected RAB3IP-HMGA2 in frame gene rearrangement and FGFR4 mutation; microsatellite instability analysis did not detect any alteration. In silico analysis confirmed the mutation of FGFR4 as a promising marker for poor prognosis and a potential therapeutic target. We report for the first time the molecular and pharmacological characterization of rare entities of adult head and neck and posterior trunk RMS. These preliminary data could shed light on this poorly understood disease.

Pulmonary Thromboembolism in COVID-19: Venous Thromboembolism or Arterial Thrombosis?

PURPOSE: To investigate CT pulmonary angiography findings of pulmonary thromboembolism (PTE) in coronavirus disease 2019 (COVID-19) and its association with clinical and radiologic conditions. MATERIALS AND METHODS: This retrospective study includes 109 hospitalized patients with COVID-19 who underwent CT pulmonary angiography for suspected PTE from March 20 to May 3, 2020. Data were collected from our PACS. CT pulmonary angiography findings of PTE were evaluated. On the basis of the presence or absence of PTE, patients were divided into two groups, and their clinical and radiologic conditions were compared using the Mann-Whitney U test and χ2 test. RESULTS: The study population comprised 82 men and 19 women, with a mean age of 64.1 years ± 15.0 (95% confidence interval [CI]: 60.4, 67.6) years. CT pulmonary angiography was performed 19.8 days ± 6.1 (95% CI: 18.1, 20.2) after symptom onset and 10.5 days ± 3.8 (95% CI: 10.2, 12.9) after admission. Of 101 patients, 41 had PTE (40.6%). PTE was mostly bilateral or only right (37/41 [90.2%]), mainly involved segmental (37/41 [90.2%]) or subsegmental (25/41 [61.0%]) arteries and affected mainly the branches of the lower lobe (30/41 [73.2%]). Parenchymal segments supplied by segmental arteries with PTE showed a prevalent consolidation pattern (25/37 [67.6%]). Deep vein thrombosis was present only in five of 41 (12.2%) patients. Comparing groups with and without PTE, no significant difference was observed in age, sex, symptom onset, comorbidities, tumor history, use of respiratory supports, activated partial thromboplastin time, prothrombin time, and deep vein thrombosis. Conversely, differences were evaluated in CT lesion score (15.7 ± 1.4 [95% CI: 15.3, 16.1] vs 14.1 ± 1.1 [95% CI: 13.8, 14.4]; P = .035), d-dimer level (P < .001), lactate dehydrogenase level (P < .001), and C-reactive protein level (P = .042). CONCLUSION: PTE in COVID-19 involves mainly the segmental and subsegmental arteries of segments affected by consolidations in patients with more severe lung disease. The authors hypothesize that the development of PTE in COVID-19 might be a pulmonary artery thrombosis because of severe lung inflammation and hypercoagulability rather than thromboembolism.© RSNA, 2020.

Computed tomography quantification of bone density adjacent to cemented pegged polyethylene glenoid components in shoulder arthroplasty.

BACKGROUND: Cemented polyethylene devices are the prostheses implanted more frequently, but there is no agreement on the optimal glenoid component design. In this study, bone mineral density (BMD) adjacent to cemented all-polyethylene glenoid components was assessed to gain insights into the characteristics of glenoid bone as a potential risk factor implicated in the failure of shoulder arthroplasty. PATIENTS AND METHODS: Twenty-two subjects were examined at an average follow-up of 31 months using the Constant-Murley score (CS) and multi-detector computed tomography. BMD was measured in 5 regions of interest (ROIs) at the sites where radiolucent lines are usually detected. BMD differences among the ROIs were tested. The relationship between BMD and a number of variables (CS subscores, age, gender, follow-up duration) was explored. RESULTS: There was a significant increase in CS scores (p<0.05). Significantly different BMD (p=0.0039) was found in the 5 ROIs, especially between ROIs 2 and 5 (p=0.016, Bonferroni's test) and between ROIs 3 and 5 (p=0.005, Bonferroni's test). BMD was lower in ROI 1 than ROI 3 and in ROI 2 than ROI 4, but the difference was not significant. DISCUSSION: The heterogeneous BMD distribution may be related to: (1) an interindividual variability in glenoid BMD; (2) the fixation technique; or (3) the different bone response to eccentric loading of the prosthetic head on the glenoid component. CONCLUSIONS: BMD analysis may contribute to extent our knowledge on glenoid component loosening and encourage further techniques of glenoid fixation.

Successful thoracoscopic resection of pulmonary metastasis less than 1 cm in size utilizing preoperative CT-guided wire localization.

Preoperative computer tomography (CT) guidance localization utilizing a percutaneous guidewire before thoracoscopic resection is safe and beneficial in children with pulmonary nodules less than 1 cm in size or located deep in the pleural surface. This paper describes a successful thoracoscopic resection of a little subpleural pulmonary metastasis of a Wilm's tumor in a 5-year-old child utilizing preoperative CT-guided wire localization of the lesion. The thoracoscopic procedure was performed with the use of two ports, the nodule was easily localized,and the pulmonary wedge resection was made by the use of an endo-GIA linear stapling device after guidewire removal. The operating time was 45 minutes and the chest tube was removed after 48 hours. The postoperative course was uneventful, and the child was discharged on postoperative day 5. This technique allows the surgeon to resect little pulmonary nodules, avoiding the need of more invasive procedures as standard thoracotomy without adjunctive morbidity and with good cosmetic results.