An aggressive locoregional orbital rhabdomyosarcoma and Li Fraumeni syndrome
DOI:
https://doi.org/10.15584/ejcem.2021.1.11Keywords:
del17p13.1, giant orbital mass, Li Fraumeni syndrome, rhabdomyosarcomaAbstract
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.
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References
Li A, Blandford A, Chundury RV, et al. Orbital rhabdomyosarcoma in a child with Leigh syndrome. J AAPOS. 2018;22(2):150-152.
Singh AP, Gupta AK, Mathur V, Barolia DK. Embryonal rhabdomyosarcoma of the orbit in a child. Med J DY Patil Vidyapeeth. 2018;11:276-278.
Shields C, Shields J, Honavar S, et al. Clinical Spectrum of Primary Ophthalmic Rhabdomyosarcoma. Ophthalmology. 2001;108:2284-2292.
Chung EM, Smirniotopoulos JG, Specht CS, Schroeder JW, Cube R. From the archives of the AFIP: Pediatric orbit tumors and tumorlike lesions: nonosseous lesions of the extraocular orbit. Radiographics. 2007;27(6):1777-1799.
Robertson JC, Jorcyk CL, Oxford JT. DICER1 Syndrome: DICER1 Mutations in Rare Cancers. Cancers (Basel). 2018;10(5):143.
Hisada M, Garber JE, Fung CY, Fraumeni JF, Li FP. Multipleprimary cancers in families with Li-Fraumeni syndrome. J Natl Cancer Inst. 1998;90(8):606-611.
Varley JM. Germline TP53 mutations and Li-Fraumeni syndrome. Hum Mutat. 2003;21(3):313-320.
Li FP, Fraumeni JF Jr. Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome? Ann Intern Med. 1969;71(4):747-752.
Chompret A, Abel A, Stoppa-Lyonnet D, et al. Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet. 2001;38:43-47.
Bachinski LL, Olufemi S, Zhou X, et al. Genetic mapping of a third Li-Fraumeni syndrome predispo-sition locus to human chromosome 1q23. Cancer Res. 2005;65(2):427-431.
Karcioglu ZA, Hadjistilianou D, Rozans M, DeFrancesco S. Orbital rhabdomyosarcoma. Cancer Control. 2004;11(5):328-333.
Weiss S, Goldblum J. Rhabdomyosarcoma. Weiss S, Goldblum J, ed. St Louis, CV Mosby Co: Saunders; 2013:785-835.
Heran F, Berges O, Blustajn J, et al. Tumor pathology of the orbit. Diagn Interv Imaging. 2014;95:933-944.
Huh WW, Mahajan A. Ophthalmic oncology. Esmaeli B, ed. Boston, Mass, USA: Springer; 2011:61-67.
Kıbıcı K, Erok B, Akın O. A Rare Presentation of Retinoblastoma as a Fungating Orbital Mass: A Case Report. J Acad Res Med. 2020;10(3):298-302.
Sohaib S.A. Moseley I. Wright J.E. Orbital rhabdomyosarcoma-the radiological characteristics. Clin Radiol. 1998;53:357-362.
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