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Eye Manifestation of Extrarenal Malignant Rhabdoid Tumour


Authors: E. Prívarová 1;  L. Griščíková 1;  M. Lokaj 1;  J. Vokurková 2;  P. Mazánek 2;  R. Autrata 1
Authors‘ workplace: Dětská oční klinika LF MU a FN Brno, přednosta prof. MUDr. Rudolf Autrata, CSc., MBA 1;  Klinika dětské chirurgie, ortopedie a traumatologie LF MU a FN Brno, přednosta prof. MUDr. Ladislav Plánka, Ph. D., oddělení Dětské plastické chirurgie, vedoucí MUDr. Jitka Vokurková, Ph. D. 2;  Klinika dětské onkologie LF MU a FN Brno, přednosta prof. MUDr. Jaroslav Štěrba, Ph. D. 3
Published in: Čes. a slov. Oftal., 70, 2014, No. 2, p. 62-65
Category: Original Article

Prezentováno na XXI. výročním sjezdu České oftalmologické společnosti ČLS JEP, 20. 9. 2013, Brno, Česká republika

Overview

Extrarenal malignant rhabdoid tumour (EMRT) is very rare and aggresive childhood neoplasm with a rapid progression. The prognosis is still very poor with 80 % mortality rate. We report a case of a newborn baby with extrarenal malignant rhabdoid tumour of an upper eyelid. An EMRT was diagnosed based on the histological examination. This case report highlights the clinical presentation, radiological features and difficulty in diagnosis. The purpose is to underline the importance of its inclusion in the differential diagnosis of any aggresive lesion in a child.

Key words:
malignant rhabdoid tumour, childhood, diagnostic process


Sources

1. Gündüz, K., Shields, J.A., Eagle, R.C. et al.: Malignant Rhabdoid Tumor of the Orbit. Arch Ophthalmol, 116; 1998: 243–246.

2. Reinhard, H., Reinert, J., Beier, R. et al.: Rhabdoid tumors in children: Prognostic factors in 70 patients diagnosed in Germany. Oncology Reports, 19; 2008: 819–823.

3. Eaton, K.W., Took, L.S., Wainwright, L.M. et al.: Spectrum of SMARCB1/INI1 Mutations in Familial and Sporadic Rhabdoid Tumors. Pediatr Blood Cancer, 56; 2011: 7–15.

4. Biegel, J.A., Zhou, J.Y., Rorke, L.B. et al.: Germ-Line and Acquired Mutations of INI1 in Atypical Teratoid and Rhabdoid Tumors. Cancer Res, 59; 1999: 74–79.

Labels
Ophthalmology
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