title: Olfactory neuroblastoma: detection of genomic imbalances by comparative genomic hybridization.
abstract: 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 esthesionearoblastoma. Immunohistochemical reactions for NSE, synaptophysin, chromogranin A, HNK-1/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.
authors.affiliation: Department of Pathology, K. Marcinkowski University of Medical Sciences, Poznan, Poland.
authors.forename: J
authors.initials: J
authors.lastname: Szymas
authors.forename: G
authors.initials: G
authors.lastname: Wolf
authors.forename: D
authors.initials: D
authors.lastname: Kowalczyk
authors.forename: S
authors.initials: S
authors.lastname: Nowak
authors.forename: I
authors.initials: I
authors.lastname: Petersen
mesh_terms: D014408:Biomarkers, Tumor; D018304:Esthesioneuroblastoma, Olfactory / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008875:Middle Aged; D009296:Nasal Cavity / Q000000981:diagnostic imaging; D009669:Nose Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D014057:Tomography, X-Ray Computed
chemical_list: D014408:Biomarkers, Tumor