© 2000 by Society
© 2000 by the Society forNeuro-Oncology
Recurrent astrocytoma in a child: A report of cytogenetics andTP53 gene mutation screening
Departments of Pathology (A.D., W.M.M.), Child Neurology (J.M.F.), and Medical Genetics (E.v.d.B., V.M.H.), University Hospital ofGroningen, The Netherlands
2 Address correspondence and reprint requests to W.M. Molenaar, Department ofPathology, University Hospital of Groningen, Hanzeplein 1, 9713 GZ Groningen,The Netherlands.
| Abstract |
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An 8-year-old girl presented with a cerebral tumor and 3 recurrences within15 months. The primary tumor was a low-grade astrocytoma, but the recurrencesshowed progressively malignant phenotypes with increasing mitotic activity andMIB-1 labeling indices. Radiotherapy was given between the first and thesecond recurrences. Cytogenetic analysis of the first and the secondrecurrences showed abnormal karyotypes. There seemed to be 2 commonbreakpoints in these 2 recurrences. TP53 gene mutation screening,using comprehensive denaturing gradient gel electrophoresis, revealed amongothers a possibly causative mutation of exon 5 in 3 of 4 tumor samples. Themeaning of TP53 mutations in low-grade astrocytomas is still unclear,but the highly abnormal karyotypes, which are unusual in these tumors,probably provide genetic evidence for the unexpected aggressive behavior ofthe tumor in this patient.
Received February 24, 2000; Accepted February 29, 2000