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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.

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Institute of Pathology, University Hospital Münster, Domagkstrasse 17, 48149 Münster, Germany.



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.


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


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.


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.

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