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Case Reports
. 2017 Dec 4:5:2050313X17745208.
doi: 10.1177/2050313X17745208. eCollection 2017.

Embryonal tumor with multilayered rosettes, C19MC-altered: Report of an extremely rare malignant pediatric central nervous system neoplasm

Muhammad Usman Tariq  1 , Zubair Ahmad  1 , Muhammad Khurram Minhas  1 , Aisha Memon  1 , Noreen Mushtaq  2 , Cynthia Hawkins  3
Affiliations
Case Reports

Embryonal tumor with multilayered rosettes, C19MC-altered: Report of an extremely rare malignant pediatric central nervous system neoplasm

Muhammad Usman Tariq et al. SAGE Open Med Case Rep. .

Abstract

The 2016 update of the WHO Classification of Tumours of the Central Nervous System has redefined a number of tumors. Embryonal tumor with multilayered rosettes, C19MC-altered is one such tumor entity which has been newly defined on the basis of a characteristic molecular alteration. We report, to our knowledge, the first case of this rare pediatric brain neoplasm in the Pakistani population. An 8-month-old girl was presented with vomiting and left-sided ptosis, and magnetic resonance imaging scan showed a cerebellar tumor. Histologically, a highly cellular population of primitive cells was seen alternating with hypocellular neuropil-rich regions containing multilayered true rosettes and cells with glial and neuronal differentiation. Amplification of 19q13. 42 chromosome region on fluorescence in situ hybridization analysis confirmed the diagnosis. Post-operative radiological examination revealed widespread central nervous system involvement. Adjuvant treatment was not offered due to complications. Patient expired a week after diagnosis.

Keywords: C19MC; Central nervous system–primitive neuroectodermal tumor; LIN28A; embryonal tumor with multilayered rosettes; multilayered rosettes.

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Conflict of interest statement

Declaration of conflicting interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship and/or publication of this article.

Figures

Figure 1.
Figure 1.
An ill-defined hypodense lesion (arrows) with mild peripheral patchy enhancement is involving the cerebellar hemisphere. The lesion is reaching up to the roof of fourth ventricle resulting in its near complete obliteration with moderate to severe dilatation of third and fourth ventricles.
Figure 2.
Figure 2.
Histological patterns of primitive cell population: (a) hypercellualr areas showing primitive cells arranged in sheets, (b) trabecular arrangement, (c) trabeculae, pseudopapillae and neural tube–like structures and (d) perivascular pseudorosettes.
Figure 3.
Figure 3.
Neuropil-rich areas: (a) abrupt transition of hypercellualr areas with neuropil-rich areas, (b) multilayered rosettes lined by primitive cells, central area contains neurofibrillary material, (c) few primitive cells and few gangliocytic cells (arrows) against fibrillary background and (d) neurofilament IHC stain in neuropil-rich background.
See this image and copyright information in PMC

References

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