A 7-year-old boy with midline cerebellar mass.
January 2005. A boy aged 7 years was found to have a tumor arising from the roof of the fourth ventricle. Histopathologically, part of the tumor appeared as a PNET, while neuroglial tissue, striated and smooth muscle, cartilage and small glandular structures were present in other regions. Tumor cells in both primitive and mature elements showed a loss of chromosome 17p accompanied by a gain of 17q, a pattern consistent with the presence of an isochromosome 17q. This abnormality is not characteristic of intracranial germ cell tumors, but is present in over 30% of medulloblastomas. On the basis of the histologic and genetic abnormalities, we propose a diagnosis of PNET with multilineal differentiation.
Ismail
Azzam
A
Lamont
Jayne M
JM
Tweddle
A Deborah
AD
Pearson
Andrew D
AD
Clifford
Steven C
SC
Ellison
David W
DW
D002528:Cerebellar Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D002648:Child; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D003937:Diagnosis, Differential; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D008279:Magnetic Resonance Imaging; D008297:Male; D018242:Neuroectodermal Tumors, Primitive / Q000235:genetics / Q000378:metabolism / Q000473:pathology*