Intracranial hemangiopericytoma: Case study with cytogenetics and genome wide SNP-A analysis |
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Authors: | Holland Heidrun Livrea Michela Ahnert Peter Koschny Ronald Kirsten Holger Meixensberger Jürgen Bauer Manfred Schober Ralf Fritzsch Dominik Krupp Wolfgang |
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Affiliation: | a Translational Centre for Regenerative Medicine, Faculty of Medicine, University of Leipzig, Philipp-Rosenthal Str. 55, 04103 Leipzig, Germany b Fraunhofer Institute for Therapy and Immunology, Leipzig, Perlickstr. 1, 04103 Leipzig, Germany c Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Haertelstraße 16-18, 04107 Leipzig, Germany d Dept. of Internal Medicine, University of Heidelberg, Heidelberg, Germany e Dept. of Neurosurgery, University Hospital of Leipzig, Liebigstrasse 20, 04103 Leipzig, Germany f Dept. of Neuropathology, University of Leipzig, Liebigstrasse 26, 04103 Leipzig, Germany g Dept. of Neuroradiology, University of Leipzig, Liebigstrasse 22a, 04103 Leipzig, Germany |
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Abstract: | The tumor entity of hemangiopericytoma is not universally recognized as a nosological entity by pathologists, and there is a trend toward reassigning it to other categories gradually. However, hemangiopericytomas occurring in the nervous system are included in the new WHO classification of brain tumors, and are distinguished from both meningioma and fibrous tumors. Since there are few genetic studies, we performed a comprehensive cytogenetic analysis of an infratentorial hemangiopericytoma in a 55-year-old female. It was originally classified as a grade II tumor but recurred as a grade III tumor with a proliferation index of 20%. Using trypsin-Giemsa staining (GTG-banding) and multicolor fluorescence in situ hybridization (M-FISH), we could confirm the loss of chromosomal material 10q, which has been previously described in hemangiopericytoma, and we identified de novo chromosomal aberrations on chromosome 8. Applying genome-wide high-density single nucleotide polymorphism array (SNP-A) analysis, we detected segments with loss or gain, as well as clonal deletions or regions suggestive of segmental uniparental disomy. These findings, together with the results of conventional histological and immunohistochemical characterization, provide additional evidence for the nosological separation of hemangiopericytoma in the central nervous system as a biologically different entity. |
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Keywords: | Hemangiopericytoma Cytogenetics Uniparental disomy |
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