Sekwaila Masenya
University of Cape Town, South Africa
Biography
Dr Sekwaila Antoinette Masenya has completed her MBCHB from the University of Kwa-Zulu Natal. She is a registrar in the department of Anatomical pathology at National Health Laboratory services, Groote Schuur hospital, University of Cape Town.
Abstract
Embyronal tumours of the central nervous system occur predominantly in young children but also affect adolescents and adults. Recently, four new molecular entities have been described, designated “CNS neuroblastoma with FOXR2 activation (CNS NB-FOXR2)”, “CNS Ewing sarcoma family tumour with CIC alteration (CNS EFT-CIC)”, CNS high grade neuroepithelial tumour with MN1 alteration (CNS HGNET-MN1)”, and CNS high grade neuroepithelial tumour with BCOR alteration (CNS HGNET-BCOR)”.
We describe one such case resembling CNS HGNET-MN1 of a 12 year old boy presenting with a 2 month history of weakness and headache.
Radiological studies showed a left-sided midbrain and pontine tumour with contrast enhacement.
Intraoperative frozen sections showed features of an embryonal tumour. The histology showed an embryonal tumour containing a mixture of solid and pseudopapillary patterns with dense perivascular hyalinization, typical of the pathology seen in astroblastoma in the WHO classification system.
It is noted that most tumours histologically diagnosed as astroblastoma belong to this new molecular entity. Even though the mentioned molecular testing is not locally available, there are morphological aspects of emryonal tumours that may provide clues to molecular subtyping.