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Child's Nervous System

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01-04-2004 | Original Paper

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

Authors: Christian H. Rickert, Werner Paulus

Published in: Child's Nervous System | Issue 4/2004

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.

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Title: Chromosomal imbalances detected by comparative genomic hybridisation in atypical teratoid/rhabdoid tumours
Authors: Christian H. Rickert
Werner Paulus
Publication date: 01-04-2004
Publisher: Springer-Verlag
Published in: Child's Nervous System / Issue 4/2004
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI: https://doi.org/10.1007/s00381-003-0909-8

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Introduction

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Introduction

Methods

Results

Conclusions

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