An aggressive locoregional orbital rhabdomyosarcoma and Li Fraumeni syndrome

• Authors: Berrin Erok , Kenan Kıbıcı
• Languages of publication: EN

Abstracts

EN

Introduction. Rhabdomyosarcoma (RMS) is the most common pediatric soft tissue sarcoma with 10 % of the cases occuring in the orbit. Patients often present with a rapidly developing proptosis and globe displacement. Aim. We aimed to present a very rare presentation of orbital RMS, with a giant exophytic orbital mass, a very rare presentation occuring in more advanced cases. Description of the case. A 3-year old girl presented to our hospital with a rapidly enlarging tissue like ulcerative mass. Her past medical history was remarkable with the diagnosis of embryonal rhabdomyosarcoma (RMS) and treatment with chemoradiotherapy at the age of 15 months. On magnetic resonance imaging (MRI), there was a giant heterogenously enhancing mass filling the right orbit and extending to the intracranial region. Li Fraumeni syndrome (LFS) was considered due to her sister death from neuroblastoma at an early age. Cytogenetic analysis revealed mutations of p53 gene, which supported our consideration. Conclusion. RMS is a highly malignant tumor which usually occurs sporadiacally. However, some rare syndromes are associated with increased incidence of RMS, such as LFS.

Keywords

EN

del17p13.1; giant orbital mass; Li Fraumeni syndrome rhabdomyosarcoma

• Publisher: Uniwersytet Rzeszowski. Wydawnictwo Uniwersytetu Rzeszowskiego
• Journal: European Journal of Clinical and Experimental Medicine
• Year: 2021
• Issue: 1
• Pages: 81-85

Contributors

author

Berrin Erok

• Department of Radiology, University of Health Sciences, Prof Dr Cemil Tascıoglu City Hospital, İstanbul, Turkey

author

Kenan Kıbıcı

• Department of Neurosurgery, Altınbas University School of Medicine Bahcelievler Medical Park Hospital, İstanbul, Turkey

Identifiers

DOI

10.15584/ejcem.2021.1.11