ABSTRACT
Pediatric neoplasms with a myofibroblastic differentiation are frequent in children, in particular myofibroma. Recently, a novel deep soft tissue myofibroblastic neoplasm has been described with high cellularity, a smooth muscle phenotype and SRF-RELA fusion. We report the case of a 15-year-old boy who presented with a tumor of the deep soft tissue of the arm, with overlapping histological features with the recently described SRF-RELA group of myofibromas but differing by the presence of calcifications, a novel SRF-STAT6 fusion transcript and nuclear expression of STAT6. No local recurrence nor distant metastasis was detected at the current follow-up of 29 months. The clinical relevance of this novel fusion requires further investigations.
Subject(s)
Biomarkers, Tumor/genetics , Cell Nucleus/genetics , Gene Fusion , Gene Rearrangement , Myofibroma/genetics , STAT6 Transcription Factor/genetics , Serum Response Factor/genetics , Soft Tissue Neoplasms/genetics , Adolescent , Biomarkers, Tumor/analysis , Cell Nucleus/chemistry , Cell Nucleus/pathology , Humans , Immunohistochemistry , Male , Myofibroma/chemistry , Myofibroma/diagnostic imaging , Myofibroma/pathology , STAT6 Transcription Factor/analysis , Sequence Analysis, RNA , Soft Tissue Neoplasms/chemistry , Soft Tissue Neoplasms/diagnostic imaging , Soft Tissue Neoplasms/pathology , Upper ExtremityABSTRACT
COVID-19 is a novel infectious disease caused by SARS-CoV-2 that emerged in late 2019 and which is now a pandemic. Solid organ transplant recipients are perceived to be at increased risk of severe COVID-19 due to their chronic use of immunosuppressive drugs (ISDs) and to their associated conditions. Scarce data are available on the optimized management of ISDs in these patients and on its impact on presentation, clinical course, viral shedding, and outcome. We report here two cases of COVID-19 in a cohabiting couple of lung transplant recipients for cystic fibrosis, who had different ISDs management and who developed discordant courses of their disease. Our findings suggest that the degree of their immunosuppression might be a reason for their different course and that ISDs might prove partially protective.
