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Rhabdomyosarcoma With EWSR1::NF2 Gene Fusion: A Case Report Potentially Expanding Its Genetic Spectrum.
Genes Chromosomes Cancer
January 2025
Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children, presenting with heterogeneous clinical and molecular subtypes. While gene fusions are predominantly associated with alveolar RMS, spindle cell RMS, especially congenital and intraosseous variants, are also linked to specific gene fusions. Furthermore, recently, FGFR1 kinase-driven RMSs were published.
View Article and Find Full Text PDFAlveolar Rhabdomyosarcoma of Nasopharynx and Paranasal Sinuses in Children Diagnosis and Treatment-Review of the Literature and Case Report.
Medicina (Kaunas)
January 2025
ENT Clinic Department, "Grigore T. Popa" University of Medicine and Pharmacy Iasi, Universitatii Street 16, 700115 Iasi, Romania.
Alveolar rhabdomyosarcoma (aRMS) is a rare pediatric malignant tumor with a poor prognosis, particularly when located in the rhinopharynx and sphenoidal floor, which complicates diagnosis and increases the risk of misclassification as benign growths. The specific genotype of aRMS is associated with a worse clinical outcome. In young children, especially those aged 4 to 12 years, rhinopharyngeal masses are often attributed to chronic adenoiditis; however, other benign (e.
View Article and Find Full Text PDFOcular Hypertropia Mimicking Inferior Rectus Palsy as an Atypical Presentation of Parameningeal Rhabdomyosarcoma in a Child.
Int Med Case Rep J
January 2025
Department of Pediatric Ophthalmology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Introduction: Rhabdomyosarcoma (RMS) originates from undifferentiated mesenchymal cells that give rise to striated muscles. The symptoms of para-meningeal RMS often resemble those of allergic rhinosinusitis, including nasal congestion, mucus discharge, headache, and occasional nosebleeds. We report a child with atypical clinical presentation of ocular hypertropia secondary to para-meningeal RMS.
View Article and Find Full Text PDFAdult and pediatric orbital rhabdomyosarcoma: comparison of characteristics and outcomes.
Orbit
January 2025
Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami, Miami, Florida, USA.
Introduction: Rhabdomyosarcoma (RMS) is a common pediatric orbital malignancy but is extremely rare in adults. This study assesses clinical and radiographic features, management, and outcomes in adult orbital RMS patients with comparison to pediatric patients.
Methods: A retrospective chart review from 2000-2023 at Bascom Palmer Eye Institute was conducted evaluating patients aged 0 to 100-years-old with biopsy-confirmed orbital RMS.
Prognostic factors in patients with localized and metastatic alveolar rhabdomyosarcoma. A report from two studies and two registries of the Cooperative Weichteilsarkom Studiengruppe CWS.
Cancer Med
January 2025
Department for Children and Adolescents, University Hospital Frankfurt, Goethe University, Frankfurt am Main, Germany.
Background: The histologic classification of rhabdomyosarcoma (RMS) as alveolar (aRMS) or embryonal (eRMS) is of prognostic importance, with the aRMS being associated with a worse outcome. Specific gene fusions (PAX3/7::FOXO1) found in the majority of aRMS have been recognized as markers associated with poor prognosis and are included in current risk stratification instead of histologic subtypes in localized disease. In metastatic disease, the independent prognostic significance of fusion status has not been definitively established.
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