%0 Journal Article %1 Holland.2012 %A Holland, Heidrun %A Ahnert, Peter %A Koschny, Ronald %A Kirsten, Holger %A Bauer, Manfred %A Schober, Ralf %A Meixensberger, Jürgen %A Fritzsch, Dominik %A Krupp, Wolfgang %D 2012 %J Pathology, research and practice %K Adult Astrocytoma/genetics/pathology/surgery Brain_Neoplasms/genetics/pathology/surgery Chromosome_Aberrations Chromosome_Banding/methods Cytogenetic_Analysis/methods DNA,_Neoplasm/analysis Female Humans In_Situ_Hybridization,_Fluorescence/methods Loss_of_Heterozygosity Male Middle_Aged Polymorphism,_Single_Nucleotide Spectral_Karyotyping/methods Young_Adult %N 6 %P 325–330 %T Detection of novel genomic aberrations in anaplastic astrocytomas by GTG-banding, SKY, locus-specific FISH, and high density SNP-array %V 208 %X Astrocytomas represent the largest and most common subgroup of brain tumors. Anaplastic astrocytoma (WHO grade III) may arise from low-grade diffuse astrocytoma (WHO grade II) or as primary tumors without any precursor lesion. Comprehensive analyses of anaplastic astrocytomas combining both cytogenetic and molecular cytogenetic techniques are rare. Therefore, we analyzed genomic alterations of five anaplastic astrocytomas using high-density single nucleotide polymorphism arrays combined with GTG-banding and FISH-techniques. By cytogenetics, we found 169 structural chromosomal aberrations most frequently involving chromosomes 1, 2, 3, 4, 10, and 12, including two not previously described alterations, a nonreciprocal translocation t(3;11)(p12;q13), and one interstitial chromosomal deletion del(2)(q21q31). Additionally, we detected previously not documented loss of heterozygosity (LOH) without copy number changes in 4/5 anaplastic astrocytomas on chromosome regions 5q11.2, 5q22.1, 6q21, 7q21.11, 7q31.33, 8q11.22, 14q21.1, 17q21.31, and 17q22, suggesting segmental uniparental disomy (UPD), applying high-density single nucleotide polymorphism arrays. UPDs are currently considered to play an important role in the initiation and progression of different malignancies. The significance of previously not described genetic alterations in anaplastic astrocytomas presented here needs to be confirmed in a larger series.

@article{Holland.2012, abstract = {Astrocytomas represent the largest and most common subgroup of brain tumors. Anaplastic astrocytoma (WHO grade III) may arise from low-grade diffuse astrocytoma (WHO grade II) or as primary tumors without any precursor lesion. Comprehensive analyses of anaplastic astrocytomas combining both cytogenetic and molecular cytogenetic techniques are rare. Therefore, we analyzed genomic alterations of five anaplastic astrocytomas using high-density single nucleotide polymorphism arrays combined with GTG-banding and FISH-techniques. By cytogenetics, we found 169 structural chromosomal aberrations most frequently involving chromosomes 1, 2, 3, 4, 10, and 12, including two not previously described alterations, a nonreciprocal translocation t(3;11)(p12;q13), and one interstitial chromosomal deletion del(2)(q21q31). Additionally, we detected previously not documented loss of heterozygosity (LOH) without copy number changes in 4/5 anaplastic astrocytomas on chromosome regions 5q11.2, 5q22.1, 6q21, 7q21.11, 7q31.33, 8q11.22, 14q21.1, 17q21.31, and 17q22, suggesting segmental uniparental disomy (UPD), applying high-density single nucleotide polymorphism arrays. UPDs are currently considered to play an important role in the initiation and progression of different malignancies. The significance of previously not described genetic alterations in anaplastic astrocytomas presented here needs to be confirmed in a larger series.}, added-at = {2014-10-13T18:24:51.000+0200}, author = {Holland, Heidrun and Ahnert, Peter and Koschny, Ronald and Kirsten, Holger and Bauer, Manfred and Schober, Ralf and Meixensberger, Jürgen and Fritzsch, Dominik and Krupp, Wolfgang}, biburl = {https://www.bibsonomy.org/bibtex/2189c07130d3e40850cf634091d6b1660/drtester}, interhash = {daca34c5917b182521aa228bb2ffd943}, intrahash = {189c07130d3e40850cf634091d6b1660}, journal = {Pathology, research and practice}, keywords = {Adult Astrocytoma/genetics/pathology/surgery Brain_Neoplasms/genetics/pathology/surgery Chromosome_Aberrations Chromosome_Banding/methods Cytogenetic_Analysis/methods DNA,_Neoplasm/analysis Female Humans In_Situ_Hybridization,_Fluorescence/methods Loss_of_Heterozygosity Male Middle_Aged Polymorphism,_Single_Nucleotide Spectral_Karyotyping/methods Young_Adult}, number = 6, pages = {325–330}, timestamp = {2014-10-13T18:24:51.000+0200}, title = {Detection of novel genomic aberrations in anaplastic astrocytomas by GTG-banding, SKY, locus-specific FISH, and high density SNP-array}, volume = 208, year = 2012 }