March 1997--4 year old girl with ring chromosome 22 and brain tumor.
A four year old Caucasian girl with a constitutional ring chromosome 22 abnormality and developmental delay presented with increasing ataxia and a six week history of non-specific symptoms. Imaging studies demonstrated a large third ventricular tumor with apparent involvement of the septum. Microscopic and immunohistochemical studies demonstrated an atypical teratoid/rhabdoid tumor. This tumor is compared and contrasted to peripheral malignant rhabdoid tumors and central primitive neuroectodermal tumors. The role of a putative tumor suppressor gene on the long arm of chromosome 22 in the pathogenesis of these tumors is also discussed.
Rubio
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Department of Pathology (Neuropathology Unit), University of Rochester Medical Center, NY, USA.
D001932:Brain Neoplasms / Q000235:genetics*; D002675:Child, Preschool; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006801:Humans; D012303:Ring Chromosomes