Open AccessMarch 1997‐4 Year Old Girl with Ring Chromosome 22 and Brain Tumor
Author(s) -
Rubio Ana
Publication year - 1997
Publication title -
brain pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.986
H-Index - 132
eISSN - 1750-3639
pISSN - 1015-6305
DOI - 10.1111/j.1750-3639.1997.tb00902.x
Subject(s) - girl , ring chromosome , ring (chemistry) , brain tumor , chromosome , medicine , biology , genetics , pathology , karyotype , chemistry , gene , organic chemistry
Case Abstract 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.