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  • 1
    ISSN: 0942-0940
    Keywords: Olfactory neuroblastoma ; CGH ; molecular genetic abnormalities
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Olfactory neuroblastoma (esthesioneuroblastoma) is a very rare tumour of the olfactory mucosa. Morphological features and cytogenetic studies strongly suggest a neuro-ectodermal origin. Up to now, cytogenetic studies are inconsistent. Some of them have proposed that the tumour belongs to the pPNET family. In the present study we describe genomic imbalances in olfactory neuroblastoma in a 46-year-old woman by using the molecular cytogenetic technique — comparative genomic hybridization (CGH) — in order to define the spectrum of genetic abnormalities in the tumour. The anatomical location and morphological findings were the basis for the diagnosis of esthesioneuroblastoma. Immunohistochemical reactions for NSE, synaptophysin, chromogranin A, HNK-l/Leu-7 and S-100 revealed a characteristic immunophenotype. The CGH analysis showed multiple changes including DNA overrepresentations of chromosomes 4. 8, 11 and 14, partial DNA gains of the long arms of chromosomes 1 and 17, deletions of the entire chromosomes 16, 18. 19 and X, and partial losses of chromosomes 5q and 17p. This study represents an early utilisation of the CGH technique in olfactory neuroblastoma and demonstrates that the tumour carries complex chromosomal aberrations.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1963
    Keywords: Schlüsselwörter Komparative genomische Hybridisierung ; CGH ; Bildanalyse ; FISH ; Key words Comparative genomic hybridization ; CGH ; Image analysis ; Tumour cytogenetics ; FISH
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Comparative genomic hybridization (CGH) is a molecular cytogenetic method for the detection of chromosomal imbalances between a tumor and a normal genome. In order to produce quantitative and reproducible results, we developed an image analysis program that allows the detection and mapping of the genetic alterations. The result is represented as a CGH sum karyogram in which the genetic changes are documented as color coded-chromosomes. The aim of our investigation is to correlate the genotype with the phenotype on the basis of CGH sum karyograms and thus to achieve a genetic characterization that will supplement the morphological tumor description.
    Notes: Zusammenfassung Die komparative genomische Hybridisierung („comparative genomic hybridization“, CGH) ist ein molekularzytogenetisches Verfahren, welches die umfassende Analyse eines Tumorgenoms auf Über- und Unterrepräsentationen von DNA-Abschnitten ermöglicht. Um quantitative und reproduzierbare Aussagen über die genetischen Aberrationen machen zu können, wurde eine Software entwickelt, welche die objektive Erfassung von Ort und Art der Veränderungen ermöglicht. Das Ergebnis wird in Form eines CGH-Summenkaryogramms dargestellt, welches die genetischen Veränderungen als farbkodierte Chromosomen dokumentiert. Ziel dieser Untersuchungen ist es, auf der Grundlage von Summen-Karyogrammen eine Korrelation zwischen Genotyp und Phänotyp herzustellen und damit eine genetische Charakterisierung von Tumoren zu erreichen, die die morphologische Beschreibung ergänzt.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
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