Embryonal Tumors with Multilayer Rosettes – Rare Central Nervous System Tumors in Infants

Česká verze

Authors: M. Pleško ¹; K. Husáková ¹; E. Kaiserová ¹; M. Tichý ²; J. Zámečník ³
Authors place of work: Klinika detskej hematológie a onkológie LF UK a DFNsP Bratislava, Slovenská republika ¹; Neurochirurgická klinika dětí a dospělých 2. LF UK a FN v Motole, Praha ²; Laboratoř neuropatologie, Ústav patologie a molekulárni medicíny, 2. LF UK a FN v Motole, Praha ³
Published in the journal: Klin Onkol 2015; 28(4): 288-292
Category: Kazuistika
doi: https://doi.org/10.14735/amko2015288

Summary

Introduction:
The most recent findings show a histopathological, genetic and clinical uniformity in cases of tumors called embryonal tumors with multilayer rosettes. This group is composed of medulloepithelioma, ependymoblastoma and embryonal tumor with abundant neuropil and true rosettes. Amplification of locus 19q13.42, which includes C19MC cluster containing genes for microRNA, and also LIN28A positivity are present in all three entities. Dysregulation of epigenetic modifiers is very important in pathogenesis of the disease. These tumors manifest in little children (median less than 3 years of age); overall survival is 5–10%.

Case report:
Almost three year-old boy diagnosed with brainstem tumor: meduloepithelioma, WHO grade IV confirmed by histological investigation. He presented with dysarthria, bulbar syndrome, central lesion of the facial nerve, quadriparesis with right-side dominancy. He received three induction cycles of chemotherapy from March to May 2014 (according to protocol COG ACNS0334). Only partial improvement of his clinical state was reached. Signs of an intracranial hypertension appeared resulting in VP shunt insertion; impairment of consciousness developed after the induction cycles and before any other treatment could be initiated. He underwent radiotherapy due to vital indication. After application of two fractions (boost in the center of the tumor), the patient became quickly comatose. Spinal cord metastasis was demarked by MRI scan (in the level of 3^rd cervical vertebra). A bilateral infiltration in pulmonary parenchyma, according to a radiologist metastasis-wise, was detected by CT scan (histologisation of infiltration was not implemented). The patient died in August 2014 – six months after manifestation of first symptoms.

Conclusion:
We reported our first documented case of a patient with tumor from embryonal tumors with multilayer rosettes group in Slovakia. Nowadays, there is no effective treatment of these tumors. Research of molecules targeting to epigenetic modifiers would be one of the possible promises for future therapy.

Key words:
medulloepithelioma – ependymoblastoma – embryonal tumors with multilayer rosettes – microRNA – 19q13.42 – C19MC – LIN28

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.

Submitted:
26. 5. 2015

Accepted:
24. 6. 2015

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