title: Chromosomal rearrangements in post-Chernobyl papillary thyroid carcinomas: evaluation by spectral karyotyping and automated interphase FISH.
abstract: Structural genomic rearrangements are frequent findings in human cancers. Therefore, papillary thyroid carcinomas (PTCs) were investigated for chromosomal aberrations and rearrangements of the RET proto-oncogene. For this purpose, primary cultures from 23 PTC have been established and metaphase preparations were analysed by spectral karyotyping (SKY). In addition, interphase cell preparations of the same cases were investigated by fluorescence in situ hybridisation (FISH) for the presence of RET/PTC rearrangements using RET-specific DNA probes. SKY analysis of PTC revealed structural aberrations of chromosome 11 and several numerical aberrations with frequent loss of chromosomes 20, 21, and 22. FISH analysis for RET/PTC rearrangements showed prevalence of this rearrangement in 72% (16 out of 22) of cases. However, only subpopulations of tumour cells exhibited this rearrangement indicating genetic heterogeneity. The comparison of visual and automated scoring of FISH signals revealed concordant results in 19 out of 22 cases (87%) indicating reliable scoring results using the optimised scoring parameter for RET/PTC with the automated Metafer4 system. It can be concluded from this study that genomic rearrangements are frequent in PTC and therefore important events in thyroid carcinogenesis.
authors: Department of Radiation Cytogenetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany. ludwig.hieber@helmholtz-muenchen.de
authors: Ludwig
authors: L
authors: Hieber
authors: Reinhard
authors: R
authors: Huber
authors: Verena
authors: V
authors: Bauer
authors: Quirin
authors: Q
authors: Schäffner
authors: Herbert
authors: H
authors: Braselmann
authors: Geraldine
authors: G
authors: Thomas
authors: Tatjana
authors: T
authors: Bogdanova
authors: Horst
authors: H
authors: Zitzelsberger
mesh_terms: D000293:Adolescent; D000328:Adult; D002277:Carcinoma; D002291:Carcinoma, Papillary; D047852:Chernobyl Nuclear Accident; D016009:Chi-Square Distribution; D002648:Child; D002869:Chromosome Aberrations; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D007091:Image Processing, Computer-Assisted; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009381:Neoplasms, Radiation-Induced / Q000235:genetics*; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics; D032681:Spectral Karyotyping; D000077273:Thyroid Cancer, Papillary; D013964:Thyroid Neoplasms / Q000235:genetics; D014407:Tumor Cells, Cultured
chemical_list: C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human