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Evaluation of molecular genetic
alterations associated with tumor progression in a case of gliomatosis
cerebri
Stefan Braeuninger1, 5,*,
Regine Schneider-Stock2, Elmar Kirches1,
James M. Powers3, David N. Korones4
and Christian Mawrin,1,**
1Department
of Neuropathology, Otto-von-Guericke-University, Leipziger Str. 44,
D-39120 Magdeburg, Germany. 2Department
of Pathology, Otto-von-Guericke-University, Leipziger Str. 44, D-39120
Magdeburg, Germany. 3Department
of Pathology and Laboratory Medicine, University of Rochester,
Rochester, NY, USA. 4Department
of Pediatrics, University of Rochester, Rochester, NY, USA. 5Department
of Neurology, Julius-Maximilians-University, Wuerzburg, Germany -- *Stefan Braeuninger:
Phone: +49-391-6715813, Fax: +49-391-6713300; **Christian Mawrin (Corresponding
author) Email: christian.mawrin@medizin.uni-magdeburg.de -- Received:
24 July 2006 Accepted: 9 August 2006 Published
online: 6 September 2006.
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Gliomatosis cerebri (GC) is a rare tumor
characterized by widespread infiltration of the brain and spinal
cord.
Although GC usually demonstrates histomorphological features of a
low-grade tumor, the formation of secondary highly malignant tumor
regions may occur.
In order to reveal molecular genetic changes associated with tumor
progression in GC, we analyzed factors known to be associated with
malignant progression in common astocytomas in an unusual GC case of
an 18-year-old patient suffering from this disease for almost 7 years.
We detected allelic losses in the Rb gene and in exon 4 of the TP53
gene in a tumor region corresponding to a glioblastoma multiforme.
EGFR or MDM2 gene amplifications were absent, and no PTEN
mutation or allelic loss on chromosome 10 could be detected.
Moreover, compared to tumor-free brain tissue of this patient, tumor
regions showed increased EGFR expression.
These findings show that malignant progression in GC might be
associated with the acquisition of molecular genetic changes also
found in low-grade astrocytomas with progression to secondary
glioblastoma.
These data support the notion that GC can be regarded as a subtype of
a common astrocytoma.
Keywords: Cell
cycle regulators, Gliomatosis cerebri, Neurofibromatosis
type 1
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