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

• Main Authors: Muhammad Usman Tariq, Zubair Ahmad, Muhammad Khurram Minhas, Aisha Memon, Noreen Mushtaq, Cynthia Hawkins
• Format: Article
• Language: English
• Published: SAGE Publishing 2017-11-01
• Series: SAGE Open Medical Case Reports
• Online Access: https://doi.org/10.1177/2050313X17745208

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.