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Niini et al.: Frequent Deletion of CDKN2A and Recurrent Co-Amplification of KIT, PDGFRA and KDR in Fibrosarcoma of Bone – an Array CGH Study

Niini T, López-Guerrero JA, Ninomiya S, Guled M, Hattinger CM, Michelacci F, Böhling T, Llombart-Bosch A, Picci P, Serra M and Knuutila S
Very little is known about the genetics of fibrosarcoma (FS) of bone. We applied array compara-tive genomic hybridization (CGH) to identify genes and genomic regions with potential role in the pathogenesis of this tumour. Seventeen patients with FS of bone were included in the study. Array CGH analysis was carried out in 13 fresh frozen tissue specimens from 11 of these patients (9 pri-mary tumours and 4 local recurrences). DNA was extracted and hybridizations were performed on Agilent 244K CGH oligoarrays. The data were analysed using Agilent DNA Analytics Software. The number of changes per patient ranged from zero to 132 (average, 43). Losses were most com-monly detected at 6q, 8p, 9p, 10, 13q and 20p. CDKN2A was homozygously deleted in 7/11 pa-tients. Hypermethylation of both p16INK4a and p14ARF was found in 1/14 patients. An internal dele-tion of STARD13 was found in a region with common losses at 13q13.1. The most frequent gains were seen at 1q, 4q, 5p, 8q, 12p, 15q, 16q, 17q, 20q, 22q and Xp. Single recurrent high level ampli-fication was detected at 4q12, including KIT, PDGFRA and KDR. No activating mutations were found in any of them. Immunohistochemistry revealed expression of PDGFRA and/or PDGFRB in 12/17 samples. Moreover, small regions of gains pinpointed genes of particular interest, such as IGF1R at 15q26.3 and CHD1L at 1q21.1. In conclusion, our analysis provided novel findings that can be exploited when searching for markers for diagnosis and prognosis, and targets of therapy in this tumour type.
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[+] Series: Fibrosarcoma of boneCG-SER-270
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2009-09-08 14:45:16 by Tarja Niini
2009-09-25 12:18:45 by Ilari Scheinin

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