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Childs Nerv Syst. 2004 Apr;20(4):221-4. Epub 2004 Feb 4.

Chromosomal imbalances detected by comparative genomic hybridisation in atypical teratoid/rhabdoid tumours.

Author information

1
Institute of Pathology, University Hospital Münster, Domagkstrasse 17, 48149 Münster, Germany. rickchr@uni-muenster.de

Abstract

INTRODUCTION:

Atypical teratoid/rhabdoid tumours (AT/RT) are highly malignant embryonal tumours of the brain composed of rhabdoid cells. Inactivating mutations of the hSNF5/INI-1 gene located in the chromosomal region 22q11.2 are regarded as a crucial step in their molecular pathogenesis. Apart from monosomy or deletions of chromosome 22 not much data exists on additional chromosomal aberrations.

METHODS:

We investigated seven primary AT/RT by comparative genomic hybridisation (CGH) and found DNA copy number changes in each case.

RESULTS:

These consisted of loss of 22q in 7 out of 7 (100%) and loss of 19 in 3 out of 7 (43%) patients. In 4/7 AT/RT (57%), loss of chromosome 22q was the sole aberration whereas one patient showed additional losses of 16p, 17p and 20q.

CONCLUSIONS:

Our CGH data suggest that apart from monosomy 22 additional genetic pathways may seem feasible for a subset of AT/RT that is yet to be defined. Furthermore, this study also emphasises the potential practical value of loss of chromosome 22 as a diagnostic marker for AT/RT.

PMID:
14767597
DOI:
10.1007/s00381-003-0909-8
[Indexed for MEDLINE]

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